Scientific Publications

Selected publications from previous and current Fisher Center members are listed here, divided by topic. Each citation includes a hyperlinked PubMed Central reference number (PMCID) or, when not available, a PubMed reference number (PMID). This page was updated on 8/29/2022.

Topics Include:

Basic Science

  • Ballal RD, Saha T, Fan S, Haddad BR, Rosen EM. BRCA1 localization to the telomere and its loss from the telomere in response to DNA damage. J Biol Chem. 2009 Dec 25;284(52):36083-98. PMCID: PMC2794724
  • Jones LP, Tilli MT, Assefnia S, Torre K, Halama ED, Parrish A, Rosen EM, Furth PA. Activation of estrogen signaling pathways collaborates with loss of BRCA1 to promote development of ERalpha-negative and ERalpha-positive mammary preneoplasia and cancer. Oncogene. 2008 Jan 31;27(6):794-802. PMCID: PMC3045705
  • Katiyar P, Ma Y, Fan S, Pestell RG, Furth PA, Rosen EM. Regulation of progesterone receptor signaling by BRCA1 in mammary cancer. Nucl Recept Signal. 2006;4:e006. PMCID: PMC1472667
  • Ma Y, Hu C, Riegel AT, Fan S, Rosen EM. Growth factor signaling pathways modulate BRCA1 repression of estrogen receptor-alpha activity. Mol Endocrinol. 2007 Aug;21(8): 1905-23. PMID: 17505062 
  • Ma Y, Katiyar P, Jones LP, Fan S, Zhang Y, Furth PA, Rosen EM. The breast cancer susceptibility gene BRCA1 regulates progesterone receptor signaling in mammary epithelial cells. Mol Endocrinol. 2006 Jan;20(1):14-34. PMCID: PMC4031608
  • Marshall JL, Peshkin BN, Yoshino T, Vowinckel J, Danielsen HE, Melino G, Tsamardinos I, Haudenschild C, Kerr DJ, Sampaio C, Rha SY, FitzGerald KT, Holland EC, Gallagher D, Garcia-Foncillas J, Juhl H. The essentials of multiomics. Oncologist. 2022 Apr 5;27(4):272-284. PMCID: PMC8982374
  • Rosen EM, Fan S, Isaacs C. BRCA1 in hormonal carcinogenesis: basic and clinical research. Endocr Relat Cancer. 2005 Sep;12(3):533-48. Review. PMID: 16172191
  • Saha T, Smulson M, Rosen EM. BRCA1 regulation of base excision repair pathway. Cell Cycle. 2010 Jul 1;9(13):2471-2. PMID: 20581465
  • Saha T, Rih JK, Roy R, Ballal R, Rosen EM. Transcriptional regulation of the base excision repair pathway by BRCA1. J Biol Chem. 2010 Jun 18;285(25): 19092-105. PMCID: PMC2885188
  • Saha T, Rih JK, Rosen EM. BRCA1 down-regulates cellular levels of reactive oxygen species. FEBS Lett. 2009 May 6;583(9):1535-43. PMCID: PMC2744635
  • Silva Soares EW, de Lima Santos SC, Bueno AG, Cavalli IJ, Cavalli LR, Fouto Matias JE, de Souza Fonseca Ribeiro EM. Concomitant loss of heterozygosity at the BRCA1 and FHIT genes as a prognostic factor in sporadic breast cancer. Cancer Genet Cytogenet. 2010 May;199(1):24-30. PMID: 20417865
  • Zhang X, Chiang HC, Wang Y, Zhang C, Smith S, Zhao X, Nair SJ, Michalek J, Jatoi I, Lautner M, Oliver B, Wang H, Petit A, Soler T, Brunet J, Mateo F, Angel Pujana M, Poggi E, Chaldekas K, Isaacs C, Peshkin BN, Ochoa O, Chedin F, Theoharis C, Sun LZ, Curiel TJ, Elledge R, Jin VX, Hu Y, Li R. Author Correction: Attenuation of RNA polymerase II pausing mitigates BRCA1-associated R-loop accumulation and tumorigenesis. Nat Commun. 2017 Jun 26;8:15908. PMID: 28649985; Correction issued: Nat Commun. 2018 Mar 30;9:16211. PMCID: PMC5882462

Clinical Issues in Hereditary Cancer and Non-Genetic Risk Modifiers

  • Barac A, Lynce F, Smith KL, Mete M, Shara NM, Asch FM, Nardacci MP, Wray L, Herbolsheimer P, Nunes RA, Swain SM, Warren R, Peshkin BN, Isaacs C. Cardiac function in BRCA1/2 mutation carriers with history of breast cancer treated with anthracyclines. Breast Cancer Res Treat. 2016 Jan;155(2):285-93. PMID: 26749359
  • Chai X, Friebel TM, Singer CF, Evans DG, Lynch HT, Isaacs C, Garber JE, Neuhausen SL, Matloff E, Eeles R, Tung N, Weitzel JN, Couch FJ, Hulick PJ, Ganz PA, Daly MB, Olopade OI, Tomlinson G, Blum JL, Domchek SM, Chen J, Rebbeck TR. Use of risk-reducing surgeries in a prospective cohort of 1,499 BRCA1 and BRCA2 mutation carriers. Breast Cancer Res Treat. 2014 Nov;148(2):397-406. PMCID: PMC4224991
  • Collins JM, Isaacs C. Management of breast cancer risk in BRCA1/2 mutation carriers who are unaffected with cancer. Breast J. 2020 July. PMID: 32652823
  • Conley CC, Agnese DM, Vadaparampil ST, O’Neill SC, Andersen BL. Affect regulation as a moderator of intentions for breast cancer chemoprevention. J Behav Med. 2022 Jun;45(3):490-496. PMID: 35113300
  • Dennis J, Ghadirian P, Little J, Lubinski J, Gronwald J, Kim-Sing C, Foulkes W, Moller P, Lynch HT, Neuhausen SL, Domchek S, Armel S, Isaacs C, Tung N, Sweet K, Ainsworth P, Sun P, Krewski D, Narod S; the Hereditary Breast Cancer Clinical Study Group. Alcohol consumption and the risk of breast cancer among BRCA1 and BRCA2 mutation carriers. Breast. 2010 Dec;19(6):479-84. PMCID: PMC3756317
  • Domchek SM, Friebel TM, Singer CF, Evans DG, Lynch HT, Isaacs C, Garber JE, Neuhausen SL, Matloff E, Eeles R, Pichert G, Van t’veer L, Tung N, Weitzel JN, Couch FJ, Rubinstein WS, Ganz PA, Daly MB, Olopade OI, Tomlinson G, Schildkraut J, Blum JL, Rebbeck TR. Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. JAMA. 2010 Sep 1;304(9):967-75. PMCID: PMC2948529
  • Domchek SM, Friebel TM, Garber JE, Isaacs C, Matloff E, Eeles R, Evans DG, Rubinstein W, Singer CF, Rubin S, Lynch HT, Daly MB, Weitzel J, Ganz PA, Pichert G, Olopade OI, Tomlinson G, Tung N, Blum JL, Couch F, Rebbeck TR. Occult ovarian cancers identified at risk-reducing salpingo-oophorectomy in a prospective cohort of BRCA1/2 mutation carriers. Breast Cancer Res Treat. 2010 Nov;124(1):195-203. PMCID: PMC2949487
  • Eisen A, Lubinski J, Gronwald J, Moller P, Lynch HT, Klijn J, Kim-Sing C, Neuhausen SL, Gilbert L, Ghadirian P, Manoukian S, Rennert G, Friedman E, Isaacs C, Rosen E, Rosen B, Daly M, Sun P, Narod SA; Hereditary Breast Cancer Clinical Study Group. Hormone therapy and the risk of breast cancer in BRCA1 mutation carriers. J Natl Cancer Inst. 2008 Oct 1;100(19):1361-7. PMCID: PMC2556701
  • Finkelman BS, Rubinstein WS, Friedman S, Friebel TM, Dubitsky S, Schonberger NS, Shoretz R, Singer CF, Blum JL, Tung N, Olopade OI, Weitzel JN, Lynch HT, Snyder C, Garber JE, Schildkraut J, Daly MB, Isaacs C, Pichert G, Neuhausen SL, Couch FJ, van’t Veer L, Eeles R, Bancroft E, Evans DG, Ganz PA, Tomlinson GE, Narod SA, Matloff E, Domchek S, Rebbeck TR. Breast and ovarian cancer risk and risk reduction in Jewish BRCA1/2 mutation carriers. J Clin Oncol. 2012 Apr 20;30(12):1321-8 PMCID: PMC3341145
  • Friebel TM, Domchek SM, Neuhausen SL, Wagner T, Evans DG, Isaacs C, Garber JE, Daly MB, Eeles R, Matloff E, Tomlinson G, Lynch HT, Tung N, Blum JL, Weitzel J, Rubinstein WS, Ganz PA, Couch F, Rebbeck TR. Bilateral prophylactic oophorectomy and bilateral prophylactic mastectomy in a prospective cohort of unaffected BRCA1 and BRCA2 mutation carriers. Clin Breast Cancer. 2007 Dec;7(11):875-82. PMID: 18269778
  • Ginsburg O, Ghadirian P, Lubinski J, Cybulski C, Lynch H, Neuhausen S, Kim-Sing C, Robson M, Domchek S, Isaacs C, Klijn J, Armel S, Foulkes WD, Tung N, Moller P, Sun P, Narod SA; Hereditary Breast Cancer Clinical Study Group. Smoking and the risk of breast cancer in BRCA1 and BRCA2 carriers: an update. Breast Cancer Res Treat. 2009 Mar;114(1):127-35. PMCID: PMC3033012
  • Highland KB, Hurtado-de-Mendoza A, Stanton CA, Dash C, Sheppard VB. Risk-reduction opportunities in breast cancer survivors: capitalizing on teachable moments. Support Care Cancer. 2015 Apr;23(4):933-41. PMCID: PMC4346480
  • Kauff ND, Domchek SM, Friebel TM, Robson ME, Lee J, Garber JE, Isaacs C, Evans DG, Lynch H, Eeles RA, Neuhausen SL, Daly MB, Matloff E, Blum JL, Sabbatini P, Barakat RR, Hudis C, Norton L, Offit K, Rebbeck TR. Risk-reducing salpingo-oophorectomy for the prevention of BRCA1- and BRCA2-associated breast and gynecologic cancer: a multicenter, prospective study. J Clin Oncol. 2008 Mar 10;26(8):1331-7. PMCID: PMC3306809
  • Kim SJ, Huzarski T, Gronwald J, Hereditary Breast Cancer Clinical Study Group, et al. Prospective evaluation of body size and breast cancer risk among BRCA1 and BRCA2 mutation carriers. Int J Epidemiol. 2018 Jun;47(3):987-997. PMCID: PMC6005062
  • King L, O’Neill SC, Spellman E, Peshkin BN, Valdimarsdottir H, Willey S, Leventhal KG, DeMarco T, Nusbaum R, Feldman E, Jandorf L, Schwartz MD. Intentions for bilateral mastectomy among newly diagnosed breast cancer patients. J Surg Oncol. 2013 Jun;107(7):772-6. PMCID: PMC3687585
  • Ko KP, Kim SJ, Huzarski T, Hereditary Breast Cancer Clinical Study Group, et al. The association between smoking and cancer incidence in BRCA1 and BRCA2 mutation carriers. Int J Cancer. 2018 Jun;142(11):2263-2272. PMCID: PMC6020833
  • Kotsopoulos J, Librach CL, Lubinski J, Gronwald J, Kim-Sing C, Ghadirian P, Lynch HT, Moller P, Foulkes WD, Randall S, Manoukian S, Pasini B, Tung N, Ainsworth PJ, Cummings S, Sun P, Narod SA; Hereditary Breast Cancer Clinical Study Group. Infertility, treatment of infertility, and the risk of breast cancer among women with BRCA1 and BRCA2 mutations: a case-control study. Cancer Causes Control. 2008 Dec;19(10):1111-9. PMID: 18509731 
  • Kotsopoulos J, Lubinski J, Lynch HT, et al. Age at first birth and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers. Breast Cancer Res Treat. 2007 Oct;105(2):221-8. PMID: 17245541
  • Kotsopoulos J, Lubinski J, Neuhausen SL, Lynch HT, Rosen B, Ainsworth P, Moller P, Ghadirian P, Isaacs C, Karlan B, Sun P, Narod SA. Hormone replacement therapy and the risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers. Gynecol Oncol. 2006 Jan;100(1):83-8. PMID: 16137751
  • Lehman CD, Isaacs C, Schnall MD, Pisano ED, Ascher SM, Weatherall PT, Bluemke DA, Bowen DJ, Marcom PK, Armstrong DK, Domchek SM, Tomlinson G, Skates SJ, Gatsonis C. Cancer yield of mammography, MR, and US in high-risk women: prospective multi-institution breast cancer screening study. Radiology. 2007 Aug;244(2):381-8. PMID: 17641362
  • Lynce F, Isaacs C. How far do we go with genetic evaluation? Gene, panel, and tumor testing. Am Soc Clin Oncol Educ Book. 2016;35:e72-8. Review. PMCID: PMC6054472
  • Mavaddat N, Barrowdale D, Andrulis IL, et al. Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Cancer Epidemiol Biomarkers Prev. 2012 Jan;21(1):134-47. PMCID: PMC3272407
  • Metcalfe KA, Lubinski J, Ghadirian P, Lynch H, Kim-Sing C, Friedman E, Foulkes WD, Domchek S, Ainsworth P, Isaacs C, Tung N, Gronwald J, Cummings S, Wagner T, Manoukian S, Møller P, Weitzel J, Sun P, Narod SA; Hereditary Breast Cancer Clinical Study Group. Predictors of contralateral prophylactic mastectomy in women with a BRCA1 or BRCA2 mutation: the Hereditary Breast Cancer Clinical Study Group. J Clin Oncol. 2008 Mar 1;26(7):1093-7. PMID: 18195327
  • Miller SM, Diefenbach MA, Jacobsen PB, Stefanek ME, Bowen DJ, Bellizzi KM, Tercyak KP. Cancer prevention and control: an overview of a decade of progress and the decade ahead. Transl Behav Med. 2021 Nov 30;11(11):1965-1966. PMID: 34850926
  • Moorman PG, Iversen ES, Marcom PK, Marks JR, Wang F; Kathleen Cuningham Consortium for Research into Familial Breast Cancer (kConFab), Lee E, Ursin G, Rebbeck TR, Domchek SM, Arun B, Susswein L, Isaacs C, Garber JE, Visvanathan K, Griffin CA, Sutphen R, Brzosowicz J, Gruber S, Finkelstein DM, Schildkraut JM. Evaluation of established breast cancer risk factors as modifiers of BRCA1 or BRCA2: a multi-center case-only analysis. Breast Cancer Res Treat. 2010 Nov;124(2):441-451. PMCID: PMC2925060
  • Narod SA, Neuhausen S, Vichodez G, Armel S, Lynch HT, Ghadirian P, Cummings S, Olopade O, Stoppa-Lyonnet D, Couch F, Wagner T, Warner E, Foulkes WD, Saal H, Weitzel J, Tulman A, Poll A, Nam R, Sun P; Hereditary Breast Cancer Study Group, Danquah J, Domchek S, Tung N, Ainsworth P, Horsman D, Kim-Sing C, Maugard C, Eisen A, Daly M, McKinnon W, Wood M, Isaacs C, Gilchrist D, Karlan B, Nedelcu R, Meschino W, Garber J, Pasini B, Manoukian S, Bellati C. Rapid progression of prostate cancer in men with a BRCA2 mutation. Br J Cancer. 2008 Jul 22;99(2):371-4. PMCID: PMC2480973
  • Narod SA, Lubinski J, Ghadirian P, Lynch HT, Moller P, Foulkes WD, Rosen B, Kim-Sing C, Isaacs C, Domchek S, Sun P; Hereditary Breast Cancer Clinical Study Group. Screening mammography and risk of breast cancer in BRCA1 and BRCA2 mutation carriers: a case-control study. Lancet Oncol. 2006 May;7(5):402-6. PMID: 16648044
  • Nkondjock A, Ghadirian P, Kotsopoulos J, Lubinski J, Lynch H, Kim-Sing C, Horsman D, Rosen B, Isaacs C, Weber B, Foulkes W, Ainsworth P, Tung N, Eisen A, Friedman E, Eng C, Sun P, Narod SA. Coffee consumption and breast cancer risk among BRCA1 and BRCA2 mutation carriers. Int J Cancer. 2006 Jan;118(1):103-7. PMID: 16032702
  • Nusbaum R, Isaacs C. Management updates for women with a BRCA1 or BRCA2 mutation. Mol Diagn Ther. 2007;11(3):133-44. Review. PMID: 17570734 
  • Pierce LJ, Levin AM, Rebbeck TR, Ben-David MA, Friedman E, Solin LJ, Harris EE, Gaffney DK, Haffty BG, Dawson LA, Narod SA, Olivotto IA, Eisen A, Whelan TJ, Olopade OI, Isaacs C, Merajver SD, Wong JS, Garber JE, Weber BL. Ten-year multi-institutional results of breast-conserving surgery and radiotherapy in BRCA1/2-associated stage I/II breast cancer. J Clin Oncol. 2006 Jun 1;24(16):2437-43. PMID: 16636335
  • Qian F, Rookus MA, Leslie G, Isaacs C, et al. Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers. Br J Cancer. 2019 Jul;121(2):180-192. PMCID: PMC6738050
  • Qian F, Wang S, Mitchell J, Isaacs C, et al. Height and body mass index as modifiers of breast cancer risk in BRCA 1/2 mutation carriers: A Mendelian randomization study. J Natl Cancer Inst. 2019 Apr;111(4):350-364. PMCID: PMC6449171
  • Rebbeck TR, Friebel T, Wagner T, Lynch HT, Garber JE, Daly MB, Isaacs C, Olopade OI, Neuhausen SL, van ‘t Veer L, Eeles R, Evans DG, Tomlinson G, Matloff E, Narod SA, Eisen A, Domchek S, Armstrong K, Weber BL; PROSE Study Group. Effect of short-term hormone replacement therapy on breast cancer risk reduction after bilateral prophylactic oophorectomy in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group. J Clin Oncol. 2005 Nov 1;23(31):7804-10. PMID: 16219936
  • Rehberg K, Fleischmann A, Silber E, O’Neill SC, Lewis FM, Tercyak KP. Facilitators of peer coaching/support engagement and dissemination among women at risk for and surviving with breast cancer. Transl Behav Med. 2021 Feb 11;11(1):153-160. PMCID: PMC7877295
  • Shu CA, Pike MC, Jotwani AR, Friebel TM, Soslow RA, Levine DA, Nathanson KL, Konner JA, Arnold AG, Bogomolniy F, Dao F, Olvera N, Bancroft EK, Goldfrank DJ, Stadler ZK, Robson ME, Brown CL, Leitao MM Jr, Abu-Rustum NR, Aghajanian CA, Blum JL, Neuhausen SL, Garber JE, Daly MB, Isaacs C, Eeles RA, Ganz PA, Barakat RR, Offit K, Domchek SM, Rebbeck TR, Kauff ND. Uterine cancer after risk-reducing salpingo-oophorectomy without hysterectomy in women with BRCA mutations. JAMA Oncol. 2016 Nov 1;2(11):1434-1440. PMCID: PMC5594920
  • Skates SJ, Greene MH, Buys SS, Mai PL, Brown P, Piedmonte M, Rodriguez G, Schorge JO, Sherman M, Daly MB, Rutherford T, Brewster WR, O’Malley DM, Partridge E, Boggess J, Drescher CW, Isaacs C, Berchuck A, Domchek S, Davidson SA, Edwards R, Elg SA, Wakeley K, Phillips KA, Armstrong D, Horowitz I, Fabian CJ, Walker J, Sluss PM, Welch W, Minasian L, Horick NK, Kasten CH, Nayfield S, Alberts D, Finkelstein DM, Lu KH. Early detection of ovarian cancer using the risk of ovarian cancer algorithm with frequent CA125 testing in women at increased familial risk – combined results from two screening trials. Clin Cancer Res. 2017 Jul 15;23(14):3628-3637. PMCID: PMC5726402
  • Skates SJ, Mai P, Horick NK, Piedmonte M, Drescher CW, Isaacs C, et al. Large prospective study of ovarian cancer screening in high-risk women: CA125 cut-point defined by menopausal status. Cancer Prev Res (Phila). 2011 Sep;4(9):1401-8. PMCID: PMC3172691
  • Smith KL, Isaacs C. Management of women at increased risk for hereditary breast cancer. Breast Dis. 2006-2007;27:51-67. Review. PMID: 17917140 
  • Spear SL, Willey SC, Feldman ED, Cocilovo C, Sidawy M, Al-Attar A, Hannan C, Seiboth L, Nahabedian MY. Nipple-sparing mastectomy for prophylactic and therapeutic indications. Plast Reconstr Surg. 2011 Now;128(5):1005-1014. PMID: 21738086.
  • Spear SL, Schwarz KA, Venturi ML, Barbosa T, Al-Attar A. Prophylactic mastectomy and reconstruction: clinical outcomes and patient satisfaction. Plast Reconstr Surg. 2008 Jul;122(1):1-9. PMID: 18594352 
  • Spear SL, Carter ME, Schwarz K. Prophylactic mastectomy: indications, options, and reconstructive alternatives. Plast Reconstr Surg. 2005 Mar;115(3):891-909. Review. PMID: 15731693 
  • Starosta AJ, Luta G, Tomko CA, Schwartz MD, Taylor KL. Baseline attitudes about prostate cancer screening moderate the impact of decision aids on screening rates. Ann Behav Med. 2015 Oct;49(5):762-8.. PMCID: PMC4959888
  • Steffen LE, Boucher KM, Damron BH, Pappas LM, Walters ST, Flores KG, Boonyasiriwat W, Vernon SW, Stroup AM, Schwartz MD, Edwards SL, Kohlmann WK, Lowery JT, Wiggins CL, Hill DA, Higginbotham JC, Burt R, Simmons RG, Kinney AY. Efficacy of a telehealth intervention on colonoscopy uptake when cost is a barrier: The family CARE cluster randomized controlled trial. Cancer Epidemiol Biomarkers Prev. 2015 Sep;24(9):1311-8. PMCID: PMC4734378
  • Taylor KL, Williams RM, Davis K, Luta G, Penek S, Barry S, Kelly S, Tomko C, Schwartz M, Krist AH, Woolf SH, Fishman MB, Cole C, Miller E. Decision making in prostate cancer screening using decision aids vs usual care: a randomized clinical trial. JAMA Intern Med. 2013 Oct 14;173(18):1704-12. PMCID: PMC3992617
  • Tung NM, Arun B, Hacker MR, Isaacs C, et al. TBCRC 031: Randomized phase II study of neoadjuvant cisplatin versus doxorubicin-cyclophosphamide in germline BRCA carriers with HER2-negative breast cancer (the INFORM trial). J Clin Oncol Off J Am Soc Clin Oncol. 2020 May;38(14):1539-1548. PMID: 32097092
  • Tung NM, Boughey JC, Pierce LJ, et al. Management of hereditary breast cancer: American Society of Clinical Oncology, American Society for Radiation Oncology, and Society of Surgical Oncology Guideline. J Clin Oncol. 2020 Jun 20;38(18):2080-2106. PMID: 32243226
  • Tynan M, Peshkin BN, Isaacs C et al. Predictors of contralateral prophylactic mastectomy in genetically high risk newly diagnosed breast cancer patients. Breast Cancer Res Treat 2020 Jan;180(1):177–185. PMCID: PMC7394490
  • Vicus D, Rosen B, Lubinski J, Domchek S, Kauff ND, Lynch HT, Isaacs C, Tung N, Sun P, Narod SA; Hereditary Ovarian Cancer Clinical Study Group. Tamoxifen and the risk of ovarian cancer in BRCA1 mutation carriers. Gynecol Oncol. 2009 Oct;115(1):135-7. PMCID: PMC3756313
  • Weissfeld JL, Schoen RE, Pinsky PF, Bresalier RS, Doria-Rose VP, Laiyemo AO, Church T, Yokochi LA, Yurgalevitch S, Rathmell J, Andriole GL, Buys S, Crawford ED, Fouad M, Isaacs C, Lamerato L, Reding D, Prorok PC, Berg CD; PLCO Project Team. Flexible sigmoidoscopy in the randomized prostate, lung, colorectal, and ovarian (PLCO) cancer screening trial: added yield from a second screening examination. J Natl Cancer Inst. 2012 Feb 22;104(4):280-9. PMCID: PMC3283538
  • Wernli KJ, Bowles EA, Knerr S, Leppig KA, Ehrlich K, Gao H, Schwartz MD, O’Neill SC. Characteristics associated with participation in ENGAGED 2 – a web-based breast cancer risk communication and decision support trial. Perm J. 2020 Dec;24:1-4. PMCID: PMC7849258
  • Wernli KJ, Knerr S, Li T, Leppig K, Ehrlich K, Farrell D, Gao H, Bowles EJA, Graham AL, Luta G, Jayasekera J, Mandelblatt JS, Schwartz MD, O’Neill SC. Effect of personalized breast cancer risk tool on chemoprevention and breast imaging: ENGAGED-2 trial. JNCI Cancer Spectr. 2021 Jan 14;5(1):pkaa114. PMCID: PMC7853161
  • Xia YY, Gronwald J, Karlan B, Lubinski J, McCuaig JM, Brooks J, Moller P, Eisen A, Sun S, Senter L, Bordeleau L, Neuhausen SL, Singer CF, Tung N, Foulkes WD, Sun P, Narod SA, Kotsopoulos J; Hereditary ovarian cancer clinical study group. Contraceptive use and the risk of ovarian cancer among women with a BRCA1 or BRCA2 mutation. Gynecol Oncol. 2022 Mar;164(3):514-521. PMID: 35063280

Disparities in Genetic and Genomic Testing

  • Almeida R, Lopez-Macha A, Dugatkin T, Joseph G, Duron Y, Hurtado de Mendoza A, D Graves K, Fejerman L. Community research collaboration to develop a promotores-based hereditary breast cancer education program for Spanish-speaking Latinas. Health Educ Res. 2021 Jul 12;36(3):319-336. PMID: 34113985
  • Butrick MN, Vanhusen L, Leventhal KG, Hooker GW, Nusbaum R, Peshkin BN, Salehizadeh Y, Pavlick J, Schwartz MD, Graves KD. Discussing race-related limitations of genomic testing for colon cancer risk: implications for education and counseling. Soc Sci Med. 2014 Aug;114:26-37. PMCID: PMC4143507
  • Carrera P, Sheppard VB, Caballero A, Gómez-Trillos S, Hurtado-de-Mendoza A. A culturally targeted video to promote genetic counseling in a community sample of at-risk US Latina women: The role of the concrete mindset. J Community Psychol. 2022 Apr;50(3):1331-1342. PMID: 34606624
  • Conley CC, Castro-Figueroa EM, Moreno L, Dutil J, García JD, Burgos C, Ricker C, Kim J, Graves KD, Ashing KT, Quinn GP, Soliman H, Vadaparampil ST. A pilot randomized trial of an educational intervention to increase genetic counseling and genetic testing among Latina breast cancer survivors. J Genet Couns. 2021 Apr;30(2):394-405. PMID: 32936981
  • Conley CC, Garcia JD, Radford C, Reich RR, Monteiro AN, Pal T, Vadaparampil ST. Acceptability and outcomes of multigene panel testing among young Black breast cancer survivors. Breast J. 2020 Oct;26(10):2112-2114. PMID: 32319712
  • Conley CC, Kasting ML, Augusto BM, Garcia JD, Cragun D, Gonzalez BD, Kim J, Ashing KT, Knott CL, Hughes-Halbert C, Pal T, Vadaparampil ST. Impact of genetic testing on risk-management behavior of black breast cancer survivors: a longitudinal, observational study. Ann Surg Oncol. 2020 May;27(5):1659-1670. PMCID: PMC7145726
  • Ding H, Sutton AL, Hurtado-de-Mendoza A, Sheppard VB. The role of psychosocial factors in Black women’s self-efficacy in receiving genetic counseling and testing. J Genet Couns. 2021 Jun 4. PMID: 34085362
  • Gómez-Trillos S, Sheppard VB, Graves KD, Hurtado-de-Mendoza A, et al. Latinas’ knowledge of and experiences with genetic cancer risk assessment: Barriers and facilitators. J Genet Couns. 2019 Dec. PMID: 31883202
  • Graves KD, Christopher J, Harrison TM, Peshkin BN, Isaacs C, Sheppard VB. Providers’ perceptions and practices regarding BRCA1/2 genetic counseling and testing in African American women. J Genet Couns. 2011 Dec;20(6):674-89. PMCID: PMC3286616
  • Hellwig LD, Turner C, O’Neill SC. Patient-centered care and genomic medicine: A qualitative provider study in the military health system. J Genet Couns. 2019 Oct;28(5):940-949. PMID: 31240828
  • Hurtado-de-Mendoza A, Gómez-Trillos S, Graves KD, et al. Process evaluation of a culturally targeted video for Latinas at risk of hereditary breast and ovarian cancer. J Genet Couns. 2021 Jun;30(3):730-741. PMID: 33222313
  • Hurtado-de-Mendoza A, Reyna VF, Wolfe CR, Gómez-Trillos S, Sutton AL, Brennan A, Sheppard VB. Adapting a theoretically-based intervention for underserved clinical populations at increased risk for hereditary cancer: lessons learned from the BRCA-Gist experience. Prev Med Rep. 2022 Jul 5;28:101887. PMCID: PMC9287635
  • Lynce F, Graves K. Differences in uptake of risk reduction strategies among underserved populations. EBioMedicine. 2015 Nov 3;2(11):1598-9. PMCID: PMC4740341
  • Lynce F, Graves KD, Jandorf L, Ricker C, Castro E, Moreno L, Augusto B, Fejerman L, Vadaparampil ST. Genomic disparities in breast cancer among Latinas. Cancer Control. 2016 Oct;23(4):359-372. PMCID: PMC5160045
  • Lynce F, Schlam I, Geng X, Peshkin BN, Friedman S, Dutil J, Nahleh Z, Campos C, Ricker C, Rodriguez P, Denduluri N, Ahn J, Isaacs C, Graves KD. BRCA1/2 mutations and risk-reducing bilateral salpingo-oophorectomy among Latinas: The UPTAKE study. J Genet Couns. 2021 Apr;30(2):383-393. PMID: 33010199
  • Mays D, Sharff ME, DeMarco TA, Williams B, Beck B, Sheppard VB, Peshkin BN, Eng-Wong J, Tercyak KP. Outcomes of a systems-level intervention offering breast cancer risk assessments to low-income underserved women. Fam Cancer. 2012 Sep;11(3):493-502. PMCID: PMC3521596
  • Sheppard VB, Graves KD, Christopher J, Hurtado-de-Mendoza A, Talley C, Williams KP. African American women’s limited knowledge and experiences with genetic counseling for hereditary breast cancer. J Genet Couns. 2014 Jun;23(3):311-22. PMCID: PMC4255465
  • Sheppard VB, Hurtado-de-Mendoza A, Zheng YL, Wang Y, Graves KD, Lobo T, Xu H, Jennings Y, Tolsma D, Trout M, Robinson BE, McKinnon B, Tadesse M. Biospecimen donation among black and white breast cancer survivors: opportunities to promote precision medicine. J Cancer Surviv. 2018 Feb;12(1):74-81. PMID: 29147853
  • Sussner KM, Edwards TA, Thompson HS, Jandorf L, Kwate NO, Forman A, Brown K, Kapil-Pair N, Bovbjerg DH, Schwartz MD, Valdimarsdottir HB. Ethnic, racial and cultural identity and perceived benefits and barriers related to genetic testing for breast cancer among at-risk women of African descent in New York City. Public Health Genomics. 2011;14(6):356-70. PMCID: PMC3221259
  • Sussner KM, Thompson HS, Jandorf L, Edwards TA, Forman A, Brown K, Kapil-Pair N, Bovbjerg DH, Schwartz MD, Valdimarsdottir HB. The influence of acculturation and breast cancer-specific distress on perceived barriers to genetic testing for breast cancer among women of African descent. Psychooncology. 2009 Sep;18(9):945-55. PMCID: PMC2735601
  • Sutton AL, Hurtado-de-Mendoza A, Quillin J, Rubinsak L, Temkin SM, Gal T, Sheppard VB. Reducing disparities in receipt of genetic counseling for underserved women at risk of hereditary breast and ovarian cancer. J Womens Health (Larchmt). 2020 Aug;29(8):1131-1135. PMID: 31794334
  • Vadaparampil ST, Moreno Botero L, Fuzzell L, et al. Development and pilot testing of a training for bilingual community education professionals about hereditary breast and ovarian cancer among Latinas: ÁRBOLES Familiares. Transl Behav Med. 2021 Jul 13:ibab093. PMID: 34255089
  • Wood ME, Garber JE, Isaacs C, et al. Genetic testing for hereditary breast and ovarian cancer and the USPSTF recommendations. Breast J. 2019 Jul;25(4):575-577. PMID: 31280501

Family Communication About Hereditary Cancer Risk

  • Conley CC, Otto AK, McDonnell GA, Tercyak KP. Multiple approaches to enhancing cancer communication in the next decade: translating research into practice and policy. Transl Behav Med. 2021 Nov 30;11(11):2018-2032. PMID: 34347872
  • Conley CC, Ketcher D, Reblin M, Kasting ML, Cragun D, Kim J, Ashing KT, Knott CL, Hughes-Halbert C, Pal T, Vadaparampil ST. The big reveal: family disclosure patterns of BRCA genetic test results among young Black women with invasive breast cancer. J Genet Couns. 2020 Jun;29(3):410-422. PMCID: PMC7343233
  • DeMarco TA, Peshkin BN, Valdimarsdottir HB, Patenaude AF, Schneider KA, Tercyak KP. Role of parenting relationship quality in communicating about maternal BRCA1/2 genetic test results with children. J Genet Couns. 2008 Jun;17(3):283-7. PMCID: PMC2495773
  • DeMarco TA, McKinnon WC. Life after BRCA1/2 testing: family communication and support issues. Breast Dis. 2006-2007;27:127-36. Review. PMID: 17917144 
  • Farkas Patenaude A, DeMarco TA, Peshkin BN, Valdimarsdottir H, Garber JE, Schneider KA, Hewitt L, Hamilton J, Tercyak KP. Talking to children about maternal BRCA1/2 genetic test results: a qualitative study of parental perceptions and advice. J Genet Couns. 2013 Jun;22(3):303-14. PMCID: PMC3646977
  • Graves KD, Sinicrope PS, Esplen MJ, Peterson SK, Patten CA, Lowery J, Sinicrope FA, Nigon SK, Borgen J, Gorin SS, Keogh LA, Lindor NM; Behavioral Working Group of the Colon Cancer Family Registry. Communication of genetic test results to family and health-care providers following disclosure of research results. Genet Med. 2014 Apr;16(4):294-301. PMCID: PMC4009372
  • Hamilton JG, Peshkin BN, Mays D, DeMarco TA, Patenaude AF, Tercyak KP. Maternal perceptions of BRCA genetic counseling communication processes about disclosing cancer risk information to children and adult relatives. Psychooncology. 2018 Jul;27(7):1825-1832. PMCID: PMC6490676
  • McDonnell GA, Peshkin BN, DeMarco TA, Peterson SK, Arun BK, Miesfeldt S, O’Neill SC, Schneider K, Garber J, Isaacs C, Luta G, Tercyak KP. Long-term adaptation among adolescent and young adult children to familial cancer risk. Pediatrics. 2022 Aug 1;150(2):e2022056339. PMID: 35859209
  • Peshkin BN, Demarco TA, Tercyak KP. On the development of a decision support intervention for mothers undergoing BRCA1/2 cancer genetic testing regarding communicating test results to their children. Fam Cancer. 2010 Mar;9(1):89-97. PMCID: PMC3556511
  • Tercyak KP, Bronheim SM, Kahn N, O’Neill SC, Peshkin BN, et al. Cancer genetic health communication in families tested for hereditary breast/ovarian cancer risk: a qualitative investigation of impact on children’s genetic health literacy and psychosocial adjustment. Transl Behav Med. 2019 May;9(3):493-503. PMCID: PMC6520800
  • Tercyak KP, Mays D, DeMarco TA, Peshkin BN, Valdimarsdottir HB, Schneider KA, Garber JE, Patenaude AF. Decisional outcomes of maternal disclosure of BRCA1/2 genetic test results to children. Cancer Epidemiol Biomarkers Prev. 2013 Jul;22(7):1260-6. PMCID: PMC3703861
  • Tercyak KP, Peshkin BN, Demarco TA, Patenaude AF, Schneider KA, Garber JE, Valdimarsdottir HB, Schwartz MD. Information needs of mothers regarding communicating BRCA1/2 cancer genetic test results to their children. Genet Test. 2007 Fall;11(3):249-55. PMCID: PMC2495765
  • Wu YP, Boucher K, Hu N, Hay J, Kohlmann W, Aspinwall LG, Bowen DJ, Parsons BG, Nagelhout ES, Grossman D, Mooney K, Leachman SA, Tercyak KP. A pilot study of a telehealth family-focused melanoma preventive intervention for children with a family history of melanoma. Psychooncology. 2020 Jan;29(1):148-155. PMCID: PMC6980884

Genetic Counseling and Testing: Process, Uptake, and Outcomes

  • Armstrong J, Lynch K, Virgo KS, Schwartz MD, Friedman S, Dean M, Andrews JE, Bourquardez Clark E, Clasen J, Conaty J, Parrillo O, Sutphen R. Utilization, timing, and outcomes of BRCA genetic testing among women with newly diagnosed breast cancer from a national commercially insured population: the ABOARD study. JCO Oncol Pract. 2021 Feb;17(2):e226-e235. PMID: 33567243
  • Armstrong J, Toscano M, Kotchko N, Friedman S, Schwartz MD, Virgo KS, Lynch K, Andrews JE, Aguado Loi CX, Bauer JE, Casares C, Bourquardez Clark E, Kondoff MR, Molina AD, Abdollahian M, Walker G, Sutphen R. Utilization and outcomes of BRCA genetic testing and counseling in a national commercially insured population: The ABOUT Study. JAMA Oncol. 2015 Dec;1(9):1251-60. PMID: 26426480
  • Armstrong J, Toscano M, Kotchko N, Friedman S, Schwartz MD, Virgo KS, Lynch K, Andrews JE, Aguado Loi CX, Bauer JE, Casares C, Teten RT, Kondoff MR, Molina AD, Abdollahian M, Brand L, Walker GS, Sutphen R. American BRCA outcomes and utilization of testing (ABOUT) study: a pragmatic research model that incorporates personalized medicine/patient-centered outcomes in a real world setting. J Genet Couns. 2015 Feb;24(1):18-28. PMID: 25209347
  • Binion S, Sorgen LJ, Peshkin BN, Valdimarsdottir H, Isaacs C, Nusbaum R, Graves KD, DeMarco T, Wood M, McKinnon W, Garber J, McCormick S, Ladd MK, Schwartz MD. Telephone versus in-person genetic counseling for hereditary cancer risk: Patient predictors of differential outcomes. J Telemed Telecare. 2021 Nov 15:1357633X211052220. PMID: 34779303
  • Butrick M, Kelly S, Peshkin BN, Luta G, Nusbaum R, Hooker GW, Graves K, Feeley L, Isaacs C, Valdimarsdottir HB, Jandorf L, DeMarco T, Wood M, McKinnon W, Garber J, McCormick SR, Schwartz MD. Uptake of BRCA1/2 genetic testing in a randomized trial of telephone counseling. Genet Med. 2015 Jun;17(6):467-75. PMCID: PMC4364924
  • Conley CC, Wernli KJ, Knerr S, Li T, Leppig K, Ehrlich K, Farrell D, Gao H, Bowles EJA, Graham AL, Luta G, Jayasekera J, Mandelblatt JS, Schwartz MD, O’Neill SC. Using protection motivation theory to predict intentions for breast cancer risk management: intervention mechanisms from a randomized controlled trial. J Cancer Educ. 2021 Nov 23:10.1007/s13187-021-02114-y. PMID: 34813048
  • Cukier YR, Thompson HS, Sussner K, Forman A, Jandorf L, Edwards T, Bovbjerg DH, Schwartz MD, Valdimarsdottir HB. Factors associated with psychological distress among women of African descent at high risk for BRCA mutations. J Genet Couns. 2013 Feb;22(1):101-7 PMID: 22736212
  • DeMarco TA, Nusbaum RH, Peshkin BN, Patenaude AF, Schneider KA, Garber JE, Valdimarsdottir HB, Tercyak KP. Prevalence and correlates of mothers and fathers attending pretest cancer genetic counseling together. Patient Educ Couns. 2010 Jan;78(1):29-33. PMCID: PMC2787643
  • DeMarco TA, Smith KL, Nusbaum RH, Peshkin BN, Schwartz MD, Isaacs C. Practical aspects of delivering hereditary cancer risk counseling. Semin Oncol. 2007 Oct;34(5):369-78. Review. PMID: 17920890 
  • DeMarco TA, Loffredo CA, Sampilo ML, Tercyak KP. On using a cancer center cancer registry to identify newly affected women eligible for hereditary breast cancer syndrome testing: practical considerations. J Genet Couns. 2006 Apr;15(2):129-36. PMID: 16761104
  • Evans C, Hamilton RJ, Tercyak KP, Peshkin BN, Rabemananjara K, Isaacs C, O’Neill SC. Understanding the needs of young women regarding breast cancer risk assessment and genetic testing: convergence and divergence among patient-counselor perceptions and the promise of peer support. Healthcare (Basel). 2016 Jun 28;4(3). pii: E35. PMCID: PMC5041036
  • Grady MC, Kolla, KA, Peshkin BN. Multigene cancer panels: Implications for pre- and post-test genetic counseling. Current Genetic Medicine Reports. 2019 Nov;7(4):169–179.
  • Graves KD, Vegella P, Poggi EA, Peshkin BN, Tong A, Isaacs C, Finch C, Kelly S, Taylor KL, Luta G, Schwartz MD. Long-term psychosocial outcomes of BRCA1/BRCA2 testing: differences across affected status and risk-reducing surgery choice. Cancer Epidemiol Biomarkers Prev. 2012 Mar;21(3):445-55. PMCID: PMC3297701
  • Graves KD, Gatammah R, Peshkin BN, Krieger A, Gell C, Valdimarsdottir HB, Schwartz MD. BRCA1/2 genetic testing uptake and psychosocial outcomes in men. Fam Cancer. 2011 Jun;10(2):213-23. PMCID: PMC3144746
  • Graves KD, Wenzel L, Schwartz MD, Luta G, Wileyto P, Narod S, Peshkin BN, Marcus A, Cella D, Emsbo SP, Barnes D, Halbert CH. Randomized controlled trial of a psychosocial telephone counseling intervention in BRCA1 and BRCA2 mutation carriers. Cancer Epidemiol Biomarkers Prev. 2010 Mar;19(3):648-54. PMCID: PMC2849295
  • Graves KD, Moss LM, Jasper CL, DeMarco TA, Peshkin BN, Isaacs C, Schwartz MD. Predictors of enrollment into a familial cancer registry by individuals at high risk for BRCA1/2. Cancer Epidemiol Biomarkers Prev. 2007 Dec;16(12):2763-7. PMID: 18086785 
  • Graves KD, Peshkin BN, Halbert CH, DeMarco TA, Isaacs C, Schwartz MD. Predictors and outcomes of contralateral prophylactic mastectomy among breast cancer survivors. Breast Cancer Res Treat. 2007 Sept;104(3):321-9. PMCID: PMC3060055
  • Hardy MW, Peshkin BN, Rose E, Ladd MK, Binion S, Tynan M, McBride CM, Grinzaid KA, Schwartz MD. Attitudes and interest in incorporating BRCA1/2 cancer susceptibility testing into reproductive carrier screening for Ashkenazi Jewish men and women. J Community Genet. 2022 Jun;13(3):281-292. PMCID: PMC9051789
  • Hooker GW, King L, Vanhusen L, Graves K, Peshkin BN, Isaacs C, Taylor KL, Poggi E, Schwartz MD. Long-term satisfaction and quality of life following risk reducing surgery in BRCA1/2 mutation carriers. Hered Cancer Clin Pract. 2014 Apr 2;12(1):9. PMCID: PMC3977895
  • Hurtado-de-Mendoza A, Graves KD, Gómez-Trillos S, Peshkin BN, Schwartz MD, et al. Culturally targeted video improves psychosocial outcomes in Latina women at risk of hereditary breast and ovarian cancer. Int J Environ Res Public Health. 2019 Nov;16(23). PMCID: PMC6926842
  • Hurtado-de-Mendoza A, Graves KD, Gómez-Trillos S, Peshkin BN, Schwartz MD, et al. Developing a culturally targeted video to enhance the use of genetic counseling in Latina women at increased risk for hereditary breast and ovarian cancer. J Community Genet. 2020 Jan;11(1):85-99. PMCID: PMC6962403
  • Hurtado-de-Mendoza A, Jackson MC, Anderson L, Sheppard VB. The role of knowledge on genetic counseling and testing in black cancer survivors at increased risk of carrying a BRCA1/2 mutation. J Genet Couns. 2017 Feb;26(1):113-121. PMCID: PMC5233651
  • Interrante MK, Segal H, Peshkin BN, Valdimarsdottir H, Nusbaum R, Similuk M, DeMarco T, Hooker G, Graves K, Isaacs C, Wood M, McKinnon W, Garber J, McCormick S, Heinzmann J, Kinney AY, Schwartz MD. Randomized noninferiority trial of telephone vs in-person genetic counseling for hereditary breast and ovarian cancer: A 12-month follow-up. JNCI Cancer Spectrum. 2017 Sept;1(1):pkx002. PMCID: PMC6611491
  • Jacobs AS, Schwartz MD, Valdimarsdottir H, Nusbaum RH, Hooker GW, DeMarco TA, Heinzmann JE, McKinnon W, McCormick SR, Davis C, Forman AD, Lebensohn AP, Dalton E, Tully DM, Graves KD, Similuk M, Kelly S, Peshkin BN. Patient and genetic counselor perceptions of in-person versus telephone genetic counseling for hereditary breast/ovarian cancer. Fam Cancer. 2016 Oct;15(4):529-39. PMCID: PMC5011450
  • Kinney AY, Steffen LE, Brumbach BH, Kohlmann W, Du R, Lee JH, Gammon A, Butler K, Buys SS, Stroup AM, Campo RA, Flores KG, Mandelblatt JS, Schwartz MD. Randomized noninferiority trial of telephone delivery of BRCA1/2 genetic counseling compared with in-person counseling: 1-year follow-up. J Clin Oncol. 2016 Aug;34(24):2914-24. PMCID: PMC5012661
  • Kinney AY, Butler KM, Schwartz MD, Mandelblatt JS, Boucher KM, Pappas LM, Gammon A, Kohlmann W, Edwards SL, Stroup AM, Buys SS, Flores KG, Campo RA. Expanding access to BRCA1/2 genetic counseling with telephone delivery: a cluster randomized trial. J Natl Cancer Inst. 2014 Nov;106(12). pii: dju328. PMCID: PMC4334799
  • Kritzik R, Usoro E, Peshkin BN, Isaacs C, Valdimarsdottir HB, Willey S, O’Neill S, DeMarco T, Nusbaum R, Jandorf L, Kelleher S, Schwartz MD. Psychosocial impact of proactive rapid genetic counseling following breast cancer diagnosis. Psychooncology. 2022 May;31(5):788-797. PMID: 34921700
  • Ladd MK, Peshkin BN, Isaacs C, O’Neill SC, Shwartz MD, et al. Predictors of genetic testing uptake in newly diagnosed breast cancer patients. J Surg Oncol. 2020 Apr. PMID: 32346886
  • Ladd MK, Peshkin BN, Senter L, Isaacs C, Schwartz MD, et al. Predictors of risk-reducing surgery intentions following genetic counseling for hereditary breast and ovarian cancer. Transl Behav Med. 2020 May;10(2):337-346. PMID: 30418620
  • Lynce F, Smith KL, Stein J, DeMarco T, Wang Y, Wang H, Fries M, Peshkin BN, Isaacs C. Deleterious BRCA1/2 mutations in an urban population of Black women. Breast Cancer Res Treat. 2015 Aug;153(1):201-9. PMCID: PMC5963698
  • Mainor CB, Isaacs C. Risk management for BRCA1/BRCA2 mutation carriers without and with breast cancer. Curr Breast Cancer Rep. 2020 Jun;12(2):66-74.
  • Mallen AR, Conley CC, Fuzzell L, Ketcher D, Augusto BM, McIntyre M, Barton LV, Townsend MK, Fridley BL, Tworoger SS, Wenham RM, Vadaparampil ST. “I think that a brief conversation from their provider can go a very long way”: Patient and provider perspectives on barriers and facilitators of genetic testing after ovarian cancer. Support Care Cancer. 2021 May;29(5):2663-2677. PMID: 32975643
  • Mallen AR, Conley CC, Townsend MK, Wells A, Boac BM, Todd S, Gandhi A, Kuznicki M, Augusto BM, McIntyre M, Fridley BL, Tworoger SS, Wenham RM, Vadaparampil ST. Patterns and predictors of genetic referral among ovarian cancer patients at a National Cancer Institute-Comprehensive Cancer Center. Clin Genet. 2020 Feb;97(2):370-375. PMCID: PMC7322721
  • Manne SL, Topham N, D’Agostino TA, Myers Virtue S, Kirstein L, Brill K, Manning C, Grana G, Schwartz MD, Ohman-Strickland P. Acceptability and pilot efficacy trial of a web-based breast reconstruction decision support aid for women considering mastectomy. Psychooncology. 2016 Dec;25(12):1424-1433. PMID: 26383833
  • Mays D, DeMarco TA, Luta G, Peshkin BN, Patenaude AF, Schneider KA, Garber JE, Tercyak KP. Distress and the parenting dynamic among BRCA1/2 tested mothers and their partners. Health Psychol. 2014 Aug;33(8):765-73. PMCID: PMC3883806
  • Nusbaum R, Leventhal KG, Hooker GW, Peshkin BN, Butrick M, Salehizadeh Y, Tuong W, Eggly S, Mathew J, Goerlitz D, Shields PG, Schwartz MD, Graves KD. Translational genomic research: protocol development and initial outcomes following SNP testing for colon cancer risk. Transl Behav Med. 2013 Mar 1;3(1):17-29. PMCID: PMC3615724
  • O’Neill SC, Hamilton JG, Conley CC, Peshkin BN, Sacca R, McDonnell GA, Isaacs C, Robson ME, Tercyak KP. Improving our model of cascade testing for hereditary cancer risk by leveraging patient peer support: a concept report. Hered Cancer Clin Pract. 2021 Sep 26;19(1):40. PMCID: PMC8474818
  • O’Neill SC, Evans C, Hamilton RJ, Peshkin BN, Isaacs C, Friedman S, Tercyak KP. Information and support needs of young women regarding breast cancer risk and genetic testing: adapting effective interventions for a novel population. Fam Cancer. 2018 Jul;17(3):351-360. PMID: 29124494
  • O’Neill SC, Mays D, Patenaude AF, Garber JE, DeMarco TA, Peshkin BN, Schneider KA, Tercyak KP. Women’s concerns about the emotional impact of awareness of heritable breast cancer risk and its implications for their children. J Community Genet. 2015 Jan;6(1):55-62. PMCID: PMC4286561
  • O’Neill SC, Valdimarsdottir HB, Demarco TA, Peshkin BN, Graves KD, Brown K, Hurley KE, Isaacs C, Hecker S, Schwartz MD. BRCA1/2 test results impact risk management attitudes, intentions, and uptake. Breast Cancer Res Treat. 2010 Dec; 124(3): 755–764. PMCID: PMC3039480
  • O’Neill SC, Peshkin BN, Luta G, Abraham A, Walker LR, Tercyak KP. Primary care providers’ willingness to recommend BRCA1/2 testing to adolescents. Fam Cancer. 2010 Mar;9(1):43-50. PMCID: PMC3514889
  • O’Neill SC, Rini C, Goldsmith RE, Valdimarsdottir H, Cohen LH, Schwartz MD. Distress among women receiving uninformative BRCA1/2 results: 12-month outcomes. Psychooncology. 2009 Oct;18(10):1088-96. PMCID: PMC3503506
  • O’Neill SC, DeMarco T, Peshkin BN, Rogers S, Rispoli J, Brown K, Valdimarsdottir H, Schwartz MD. Tolerance for uncertainty and perceived risk among women receiving uninformative BRCA1/2 test results. Am J Med Genet C Semin Med Genet. 2006 Nov 15;142C(4):251-9. PMID: 17024668 
  • Peshkin BN, Isaacs C. ClinGen and Genetic Testing. N Engl J Med. 2015 Oct;373(14):1377. PMID: 26422738
  • Peshkin BN, Isaacs C, Schwartz MD. Re: Cascade genetic testing of relatives for hereditary cancer risk: results of an online initiative. J Natl Cancer Inst. 2019 Aug;111(8):872-873. PMCID: PMC6695300
  • Peshkin BN, Kelly S, Nusbaum RH, Similuk M, DeMarco TA, Hooker GW, Valdimarsdottir HB, Forman AD, Joines JR, Davis C, McCormick SR, McKinnon W, Graves KD, Isaacs C, Garber J, Wood M, Jandorf L, Schwartz MD. Patient perceptions of telephone vs. in-person BRCA1/BRCA2 genetic counseling. J Genet Couns. 2016 Jun;25(3):472-82. PMCID: PMC4829475
  • Peshkin BN, Ladd MK, Isaacs C, Graves KD, O’Neill SC, Schwartz MD, et al. The genetic education for men (GEM) trial: development of web-based education for untested men in BRCA/2-positive families. J Cancer Educ Off J Am Assoc Cancer Educ. 2019 Aug. PMCID: PMC7010546
  • Peshkin BN, Demarco TA. Genetic testing: the bigger picture. Oncology (Williston Park). 2012 May 15;26(5). PMID: 25192142
  • Peshkin BN, DeMarco TA, Garber JE, Valdimarsdottir HB, Patenaude AF, Schneider KA, Schwartz MD, Tercyak KP. Brief assessment of parents’ attitudes toward testing minor children for hereditary breast/ovarian cancer genes: development and validation of the Pediatric BRCA1/2 Testing Attitudes Scale (P-TAS). J Pediatr Psychol. 2009 Jul;34(6):627-38. PMCID: PMC2699245
  • Peshkin BN, Demarco TA, Graves KD, Brown K, Nusbaum RH, Moglia D, Forman A, Valdimarsdottir H, Schwartz MD. Telephone genetic counseling for high-risk women undergoing BRCA1 and BRCA2 testing: rationale and development of a randomized controlled trial. Genet Test. 2008 Mar;12(1):37-52. PMID: 18373403
  • Peshkin BN, Isaacs C.  Patient education:  Genetic testing for hereditary breast, ovarian, prostate, and pancreatic cancer (Beyond the Basics).  In: Vora, S.R. (Ed.), UpToDate.  Waltham, MA, 2012 – Present.
  • Rajpal N, Muñoz J, Peshkin BN, Graves KD. Insights into BRCA1/2 genetic counseling from ethnically diverse Latina breast cancer survivors. J Genet Couns. 2017 Dec;26(6):1221-1237. PMID: 28374142
  • Rini C, O’Neill SC, Valdimarsdottir H, Goldsmith RE, Jandorf L, Brown K, DeMarco TA, Peshkin BN, Schwartz MD. Cognitive and emotional factors predicting decisional conflict among high-risk breast cancer survivors who receive uninformative BRCA1/2 results. Health Psychol. 2009 Sep;28(5):569-78. PMCID: PMC3510002
  • Schwartz MD, Peshkin BN, Isaacs C, Willey S, Valdimarsdottir HB, Nusbaum R, Hooker G, O’Neill S, Jandorf L, Kelly SP, Heinzmann J, Zidell A, Khoury K. Randomized trial of proactive rapid genetic counseling versus usual care for newly diagnosed breast cancer patients. Breast Cancer Res Treat. 2018 Apr 2. PMCID: PMC6026034
  • Schwartz MD, Valdimarsdottir HB, Peshkin BN, Mandelblatt J, Nusbaum R, Huang AT, Chang Y, Graves K, Isaacs C, Wood M, McKinnon W, Garber J, McCormick S, Kinney AY, Luta G, Kelleher S, Leventhal KG, Vegella P, Tong A, King L. Randomized noninferiority trial of telephone versus in-person genetic counseling for hereditary breast and ovarian cancer. J Clin Oncol. 2014 Mar 1;32(7):618-26. PMCID: PMC3927731
  • Schwartz MD, Isaacs C, Graves KD, Poggi E, Peshkin BN, Gell C, Finch C, Kelly S, Taylor KL, Perley L. Long-term outcomes of BRCA1/BRCA2 testing: risk reduction and surveillance. Cancer. 2012 Jan 15;118(2):510-7. PMCID: PMC3286617
  • Schwartz MD, Valdimarsdottir HB, DeMarco TA, Peshkin BN, Lawrence W, Rispoli J, Brown K, Isaacs C, O’Neill SO, Shelby R, Grumet SC, McGovern MM, Rogers S, Bremer H, Leaman S, O’Mara K, Komaridis K. Randomized trial of a decision aid for BRCA1/BRCA2 mutation carriers: impact on measures of decision making and satisfaction. Health Psychol. 2009 Jan;28(1):11-9. PMCID: PMC3580845
  • Schwartz MD, Peshkin BN, Tercyak KP, Taylor KL, Valdimarsdottir H. Decision making and decision support for hereditary breast-ovarian cancer susceptibility. Health Psychol. 2005 Jul;24(4 Suppl):S78-84. Review. PMID: 16045423 
  • Schwartz MD, Lerman C, Brogan B, Peshkin BN, Isaacs C, DeMarco T, Halbert CH, Pennanen M, Finch C. Utilization of BRCA1/BRCA2 mutation testing in newly diagnosed breast cancer patients. Cancer Epidemiol Biomarkers Prev. 2005 Apr;14(4):1003-7. PMID: 15824179 
  • Schwartz MD, Lerman C, Brogan B, Peshkin BN, Halbert CH, DeMarco T, Lawrence W, Main D, Finch C, Magnant C, Pennanen M, Tsangaris T, Willey S, Isaacs C. Impact of BRCA1/BRCA2 counseling and testing on newly diagnosed breast cancer patients. J Clin Oncol. 2004 May 15;22(10):1823-9. PMID: 15067026 
  • Schwartz MD, Peshkin BN, Hughes C, Main D, Isaacs C, Lerman C. Impact of BRCA1/BRCA2 mutation testing on psychologic distress in a clinic-based sample. J Clin Oncol. 2002 Jan 15;20(2):514-20. PMID: 11786581
  • Sharff ME, DeMarco TA, Mays D, Peshkin BN, Valdimarsdottir HB, Garber JE, Schneider KA, Patenaude AF, Tercyak KP. Parenting through genetic uncertainty: themes in the disclosure of breast cancer risk information to children. Genet Test Mol Biomarkers. 2012 May;16(5):376-82. PMCID: PMC3354582
  • Steffen LE, Du R, Gammon A, Mandelblatt JS, Kohlmann WK, Lee JH, Buys SS, Stroup AM, Campo RA, Flores KG, Vicuña B, Schwartz MD, Kinney AY. Genetic testing in a population-based sample of breast and ovarian cancer survivors from the REACH randomized trial: Cost barriers and moderators of counseling mode. Cancer Epidemiol Biomarkers Prev. 2017 Dec;26(12):1772-1780. PMCID: PMC5712253
  • Tercyak KP, Hensley Alford S, Emmons KM, Lipkus IM, Wilfond BS, McBride CM. Parents’ attitudes toward pediatric genetic testing for common disease risk. Pediatrics. 2011 May;127(5):e1288-95. PMCID: PMC3081191
  • Tercyak KP, Peshkin BN, Brogan BM, DeMarco T, Pennanen MF, Willey SC, Magnant CM, Rogers S, Isaacs C, Schwartz MD. Quality of life after contralateral prophylactic mastectomy in newly diagnosed high-risk breast cancer patients who underwent BRCA1/2 gene testing. J Clin Oncol. 2007 Jan 20;25(3):285-91. PMID: 17159191 
  • Thompson HS, Sussner K, Schwartz MD, Edwards T, Forman A, Jandorf L, Brown K, Bovbjerg DH, Valdimarsdottir HB. Receipt of genetic counseling recommendations among black women at high risk for BRCA mutations. Genet Test Mol Biomarkers. 2012 Nov;16(11):1257-62. PMID: 23057569
  • Tong A, Kelly S, Nusbaum R, Graves K, Peshkin BN, Valdimarsdottir HB, Wood M, McKinnon W, Garber J, McCormick SR, Jandorf L, Schwartz MD. Intentions for risk-reducing surgery among high-risk women referred for BRCA1/BRCA2 genetic counseling. Psychooncology. 2015 Jan;24(1):33-9. PMCID: PMC4234699
  • Tynan M, Peshkin BN, Isaacs C, Willey S, Valdimarsdottir HB, Nusbaum R, Hooker G, O’Neill SC, Jandorf L, Kelly SP, Heinzmann J, Kelleher S, Poggi E, and Schwartz MD. Predictors of contralateral prophylactic mastectomy in genetically high risk newly diagnosed breast cancer patients. Breast Cancer Res Treat. 2020 Jan. PMCID: PMC7035174
  • Wu YP, Mays D, Kohlmann W, Tercyak KP. Pediatric predispositional genetic risk communication: potential utility for prevention and control of melanoma risk as an exemplar. J Genet Couns. 2017 Oct;26(5):887-893. PMCID: PMC5702278

Genetic Epidemiology Including Genetic Risk Modifiers

  • Antoniou AC, Kuchenbaecker KB, Soucy P, et al. Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. Breast Cancer Res. 2012 Feb 20;14(1):R33. PMCID: PMC3496151
  • Antoniou AC, Beesley J, McGuffog L, Sinilnikova OM, Healey S, Neuhausen SL,Ding YC, Rebbeck TR, Weitzel JN, Lynch HT, Isaacs C, et al. Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction. Cancer Res. 2010 Dec1;70(23):9742-54. PMCID: PMC2999830
  • Barnes DR, Rookus MA, McGuffog L, et al. Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants. Genet Med. 2020 Oct;22(10):1653-1666. PMCID: PMC7521995
  • Blein S, Bardel C, Danjean V, et al. An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers. Breast Cancer Res. 2015 Apr 25;17:61. PMCID: PMC4478717
  • Brasky TM, Bonner MR, Moysich KB, Ochs-Balcom HM, Marian C, Ambrosone CB, Nie J, Tao MH, Edge SB, Trevisan M, Shields PG, Freudenheim JL. Genetic variants in COX-2, non-steroidal anti-inflammatory drugs, and breast cancer risk: the Western New York Exposures and Breast Cancer (WEB) Study. Breast Cancer Res Treat. 2011 Feb;126(1):157-65. PMCID: PMC2992094
  • Brasky TM, Bonner MR, Moysich KB, Ambrosone CB, Nie J, Tao MH, Edge SB, Kallakury BV, Marian C, Trevisan M, Shields PG, Freudenheim JL. Non-steroidal anti-inflammatory drug (NSAID) use and breast cancer risk in the Western New York Exposures and Breast Cancer (WEB) Study. Cancer Causes Control. 2010 Sep;21(9):1503-12. PMCID: PMC2922491
  • Brewster AM, Jorgensen TJ, Ruczinski I, Huang HY, Hoffman S, Thuita L, Newschaffer C, Lunn RM, Bell D, Helzlsouer KJ. Polymorphisms of the DNA repair genes XPD (Lys751Gln) and XRCC1 (Arg399Gln andArg194Trp): relationship to breast cancer risk and familial predisposition to breast cancer. Breast Cancer Res Treat. 2006 Jan;95(1):73-80. PMID: 16319991
  • Casasanta N, Kipnis ST, Linville L, Lipinski S, Knoedler A, Marino A, McHenry A, Biagi T, Stark E, Amdur R, Denduluri N, Rodriguez P, Isaacs C, Kaltman R. Relationship between hereditary cancer syndromes and oncotype DX recurrence score. Clin Breast Cancer. 2020 Apr;20(2):125-130. PMID: 31526714
  • Coignard J, Lush M, Beesley J, et al. A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers. Nat Commun. 2021 Feb 17;12(1):1078. PMCID: PMC7890067
  • Couch FJ, Gaudet MM, Antoniou AC, et al. Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. Cancer Epidemiol Biomarkers Prev. 2012 Apr;21(4):645-57. PMCID: PMC3319317
  • Dareng EO, Tyrer JP, Barnes DR et al. Polygenic risk modeling for prediction of epithelial ovarian cancer risk. Eur J Hum Genet. 2022 Mar;30(3):349-362. PMID: 35027648
  • Ding YC, McGuffog L, Healey S, et al. A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers. Cancer Epidemiol Biomarkers Prev. 2012 Aug;21(8):1362-70. PMCID: PMC3415567
  • Dunning AM, Michailidou K, Kuchenbaecker KB, et al. Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170. Nat Genet. 2016 Apr;48(4):374-86. PMCID: PMC4938803
  • Fachal Vilar L, Aschard H, Beesley J, Barnes D, Allen J, Kar S, Pooley K, et al. Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes. Nat Genet. 2020 Jan;52(1):56-73. PMCID: PMC6974400
  • Figlioli G, Bogliolo M, Catucci I, Isaacs C, et al. The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer. NPJ Breast Cancer. 2019 Nov;5:38. PMCID: PMC6825205
  • Friebel TM, Andrulis IL, Balmaña J, Isaacs C, et al. BRCA1 and BRCA2 pathogenic sequence variants in women of African origin or ancestry. Hum Mutat. 2019 Oct;40(10):1781-1796. PMCID: PMC6764847
  • Hamdi Y, Soucy P, Kuchenbaeker KB, et al. Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3. Breast Cancer Res Treat. 2017 Jan;161(1):117-134. PMCID: PMC5222911
  • Heeke AL, Pishvaian MJ, Lynce F, Isaacs C, et al. Prevalence of homologous recombination-related gene mutations across multiple cancer types. JCO Precis Oncol. 2018 Jul;2018. PMCID: PMC6139373
  • Hüsing A, Canzian F, Beckmann L, Garcia-Closas M, Diver WR, Thun MJ, Berg CD, Hoover RN, Ziegler RG, Figueroa JD, Isaacs C, Olsen A, Viallon V, Boeing H, Masala G, Trichopoulos D, Peeters PH, Lund E, Ardanaz E, Khaw KT, Lenner P, Kolonel LN, Stram DO, Le Marchand L, McCarty CA, Buring JE, Lee IM, Zhang S, Lindström S, Hankinson SE, Riboli E, Hunter DJ, Henderson BE, Chanock SJ, Haiman CA, Kraft P, Kaaks R; BPC3. Prediction of breast cancer risk by genetic risk factors, overall and by hormone receptor status. J Med Genet. 2012 Sep;49(9):601-8. PMCID: PMC3793888
  • Jiang X, Finucane HK, Schumacher FR, Isaacs C, et al. Shared heritability and functional enrichment across six solid cancers. Nat Commun. 2019 Jan;10(1):431. PMCID: PMC6347624
  • Jorgensen TJ. Enhancing radiosensitivity: targeting the DNA repair pathways. Cancer Biol Ther. 2009 Apr;8(8):665-70. Review. PMID: 19287209
  • Jorgensen TJ, Helzlsouer KJ, Clipp SC, Bolton JH, Crum RM, Visvanathan K. DNA repair gene variants associated with benign breast disease in high cancer risk women. Cancer Epidemiol Biomarkers Prev. 2009 Jan;18(1):346-50. PMCID: PMC3428042
  • Jorgensen TJ, Visvanathan K, Ruczinski I, Thuita L, Hoffman S, Helzlsouer KJ. Breast cancer risk is not associated with polymorphic forms of xeroderma pigmentosum genes in a cohort of women from Washington County, Maryland. Breast Cancer Res Treat. 2007 Jan;101(1):65-71. PMID: 16823510
  • Joshi AD, Lindström S, Hüsing A, et al. Additive interactions between susceptibility single-nucleotide polymorphisms identified in genome-wide association studies and breast cancer risk factors in the Breast and Prostate Cancer Cohort Consortium. Am J Epidemiol. 2014 Nov 15;180(10):1018-27. PMCID: PMC4224360
  • Kosti O, Byrne C, Meeker KL, Watkins KM, Loffredo CA, Shields PG, Schwartz MD, Willey SC, Cocilovo C, Zheng YL. Mutagen sensitivity, tobacco smoking and breast cancer risk: a case-control study. Carcinogenesis. 2010 Apr;31(4):654-9. PMCID: PMC2847093
  • Kuchenbaecker KB, Neuhausen SL, Robson M, et al.  Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers. Breast Cancer Res. 2014 Dec 31;16(6):3416. PMCID: PMC4406179
  • Laitman Y, Kuchenbaecker KB, Rantala J, Hogervorst F, Peock S, Godwin AK, Arason A, Kirchhoff T, Offit K, Isaacs C, Schmutzler RK, Wappenschmidt B, Nevanlinna H, Chen X, Chenevix-Trench G, Healey S, Couch F, Peterlongo P, Radice P, Nathanson KL, Caligo MA, Neuhausen SL, Ganz P, Sinilnikova OM, McGuffog L, Easton DF, Antoniou AC, Wolf I, Friedman E. The KL-VS sequence variant of Klotho and cancer risk in BRCA1 and BRCA2 mutation carriers. Breast Cancer Res Treat. 2012 Apr;132(3):1119-26. PMCID: PMC3352679
  • Lakeman IMM, van den Broek AJ, Vos JAM, et al. The predictive ability of the 313 variant-based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant. Genet Med. 2021 Jun 10. PMID: 34113011
  • Lawrenson K, Kar S, McCue K, et al. Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus. Nat Commun. 2016 Sep;7:12675. PMCID: PMC5023955
  • Lu Y, Beeghly-Fadiel A, Wu L, Isaacs C, et al. A transcriptome-wide association study among 97,898 women to identify candidate susceptibility genes for epithelial ovarian cancer risk. Cancer Res. 2018 Sep;78(18):5419-5430. PMCID: PMC6139053
  • Maas P, Barrdahl M, Joshi AD, et al. Breast cancer risk from modifiable and nonmodifiable risk factors among white women in the United States. JAMA Oncol. 2016 Oct;2(10):1295-1302. PMCID: PMC5719876
  • Marian C, Ochs-Balcom HM, Nie J, Kallakury BV, Ambrosone CB, Trevisan M, Edge S, Shields PG, Freudenheim JL. FGFR2 intronic SNPs and breast cancer risk; associations with tumor characteristics and interactions with exogenous exposures and other known breast cancer risk factors. Int J Cancer. 2011 Aug 1;129(3):702-12. PMCID: PMC3033493
  • Meeks HD, Song H, Michailidou K, et al. BRCA2 polymorphic stop codon K3326X and the risk of breast, prostate, and ovarian cancers. J Natl Cancer Inst. 2015 Nov 19;108(2). pii: djv315. PMCID: PMC4907358
  • Milne RL, Kuchenbaecker KB, Michailidou K, et al.  Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer. Nat Genet. 2017 Dec;49(12):1767-1778. PMCID: PMC5808456
  • Neuhausen SL, Brummel S, Ding YC, Steele L, Nathanson KL, Domchek S, Rebbeck TR, Singer CF, Pfeiler G, Lynch HT, Garber JE, Couch F, Weitzel JN, Godwin A, Narod SA, Ganz PA, Daly MB, Isaacs C, Olopade OI, Tomlinson GE, Rubinstein WS, Tung N, Blum JL, Gillen DL. Genetic variation in IGF2 and HTRA1 and breast cancer risk among BRCA1 and BRCA2 carriers. Cancer Epidemiol Biomarkers Prev. 2011Aug;20(8):1690-702. PMCID: PMC3352680
  • Phelan CM, Kuchenbaecker KB, Tyrer JP, et al. Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer. Nat Genet. 2017 May;49(5):680-691. PMCID: PMC5612337
  • Rebbeck TR, Friebel TM, Friedman E, et al. Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. Hum Mutat. 2018 May;39(5):593-620. PMCID: PMC5903938
  • Rebbeck TR, Friebel TM, Mitra N, et al. Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women. Breast Cancer Res. 2016 Nov 11;18(1):112. PMCID: PMC5106833
  • Rebbeck TR, Mitra N, Wan F, et al. Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer. JAMA. 2015 Apr 7;313(13):1347-61. PMCID: PMC4537700
  • Rebbeck TR, Mitra N, Domchek SM, Wan F, Chuai S, Friebel TM, Panossian S, Spurdle A, Chenevix-Trench G; kConFab, Singer CF, Pfeiler G, Neuhausen SL, Lynch HT, Garber JE, Weitzel JN, Isaacs C, Couch F, Narod SA, Rubinstein WS, Tomlinson GE, Ganz PA, Olopade OI, Tung N, Blum JL, Greenberg R, Nathanson KL, Daly MB. Modification of ovarian cancer risk by BRCA1/2-interacting genes in a multicenter cohort of BRCA1/2 mutation carriers. Cancer Res. 2009 Jul 15;69(14):5801-10. PMCID: PMC2751603
  • Siddiq A, Couch FJ, Chen GK, et al.  A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11. Hum Mol Genet. 2012 Dec 15;21(24):5373-84. PMCID: PMC3510753
  • Silvestri V, Barrowdale D, Mulligan AM, et al. Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2. Breast Cancer Res. 2016 Feb 9;18(1):15. PMCID: PMC4746828
  • Silvestri V, Leslie G, Barnes DR, Isaacs C, et al. Characterization of the cancer spectrum in men with germline BRCA1 and BRCA2 pathogenic variants: results from the consortium of investigators of modifiers of BRCA1/2 (CIMBA). JAMA Oncol. 2020 Jul. PMCID: PMC7333177
  • Tung N, Arun B, Hacker MR, et al. TBCRC 031: Randomized phase II study of neoadjuvant cisplatin versus doxorubicin-cyclophosphamide in germline BRCA carriers with HER2-negative breast cancer (the INFORM trial). J Clin Oncol. 2020 May 10;38(14):1539-1548. PMID: 32097092
  • Vigorito E, Kuchenbaecker KB, Beesley J, et al. Fine-scale mapping at 9p22.2 identifies candidate causal variants that modify ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. PLoS One. 2016 Jul 27;11(7):e0158801. PMCID: PMC4963094
  • Walker LC, Marquart L, Pearson JF, et al. Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers. Eur J Hum Genet. 2017 Apr;25(4):432-438. PMCID: PMC5386423
  • Zeng C, Guo X, Long J, et al. Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus. Breast Cancer Res. 2016 Jun 21;18(1):64. PMCID: PMC4962376
  • Zhang H, Ahearn TU, Lecarpentier J, Isaacs C, Peshkin BN, et al. Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses. Nat Genet. 2020 Jun;52(6):572-581. PMID: 32424353

Genomic Testing, Hereditary

  • Feng H, Gusev A, Pasaniuc B, et al. Transcriptome-wide association study of breast cancer risk by estrogen-receptor status. Genet Epidemiol. 2020 Jul;44(5):442-468. PMCID: PMC7987299
  • Graves KD, Leventhal KG, Nusbaum R, Salehizadeh Y, Hooker GW, Peshkin BN, Butrick M, Tuong W, Mathew J, Goerlitz D, Fishman MB, Shields PG, Schwartz MD. Behavioral and psychosocial responses to genomic testing for colorectal cancer risk. Genomics. 2013 Aug;102(2):123-30. PMCID: PMC3729872
  • Graves KD, Peshkin BN, Luta G, Tuong W, Schwartz MD. Interest in genetic testing for modest changes in breast cancer risk: implications for SNP testing. Public Health Genomics. 2011 May;14(3):178-89. PMCID: PMC3104870
  • Graves KD, Sinicrope PS, McCormick JB, Zhou Y, Vadaparampil ST, Lindor NM. Public perceptions of disease severity but not actionability correlate with interest in receiving genomic results: nonalignment with current trends in practice. Public Health Genomics. 2015 Mar;18(3):173-83. PMID: 25790929
  • Leventhal KG, Tuong W, Peshkin BN, Salehizadeh Y, Fishman MB, Eggly S, FitzGerald K, Schwartz MD, Graves KD. “Is it really worth it to get tested?”: primary care patients’ impressions of predictive SNP testing for colon cancer. J Genet Couns. 2013 Feb;22(1):138-51. PMCID: PMC3567438
  • Staley BS, Milko LV, Waltz M, et al. Evaluating the clinical utility of early exome sequencing in diverse pediatric outpatient populations in the North Carolina Clinical Genomic Evaluation of Next-generation Exome Sequencing (NCGENES) 2 study: a randomized controlled trial. Trials. 2021 Jun 14;22(1):395. PMCID:  PMC8201439

Genomic Testing, Tumor/Somatic

  • Bartholomew AJ, Dohnalek H, Prins PA, et al. Underuse of exon mutational analysis for gastrointestinal stromal tumors. J Surg Res. 2018 Nov;231:43-48. PMID: 30278964
  • Evans CN, Brewer NT, Vadaparampil ST, Boisvert M, Ottaviano Y, Lee MC, Isaacs C, Schwartz MD, O’Neill SC. Impact of genomic testing and patient-reported outcomes on receipt of adjuvant chemotherapy. Breast Cancer Res Treat. 2016 Apr;156(3):549-555. PMCID: PMC5065914
  • Heeke AL, Xiu J, Elliott A, Korn WM, Lynce F, Pohlmann PR, Isaacs C, Swain SM, Vidal G, Schwartzberg LS, Tan AR. Actionable co-alterations in breast tumors with pathogenic mutations in the homologous recombination DNA damage repair pathway. Breast Cancer Res Treat. 2020 Nov;184(2):265-275. PMID: 32776290
  • Jayasekera J, Sparano JA, O’Neill S, Chandler Y, Isaacs C, Kurian AW, Kushi L, Schechter CB, Mandelblatt J. Development and validation of a simulation model-based clinical decision tool: identifying patients where 21-gene recurrence score testing may change decisions. J Clin Oncol. 2021 Jul 12:JCO2100651. PMCID: PMC8904525 (new window)
  • Jayasekera J, Vadaparampil ST, Eggly S, Isaacs C, O’Neill SC, et al. Question prompt list to support patient-provider communication in the use of the 21-gene recurrence test: feasibility, acceptability, and outcomes. JCO Oncol Pract. 2020 May;JOP1900661. PMID: 32463763
  • O’Neill SC, Isaacs C, Chao C, Tsai HT, Liu C, Ekezue BF, Selvam N, Kessler LG, Schwartz MD, Lobo T, Potosky AL. Adoption of gene expression profiling for breast cancer in US oncology practice for women younger than 65 years. J Natl Compr Canc Netw. 2015 Oct;13(10):1216-24. PMCID: PMC4973473
  • O’Neill SC, Isaacs C, Lynce F, Graham DM, Chao C, Sheppard VB, Zhou Y, Liu C, Selvam N, Schwartz MD, Potosky AL. Endocrine therapy initiation, discontinuation and adherence and breast imaging among 21-gene recurrence score assay-eligible women under age 65. Breast Cancer Res. 2017 Mar 31;19(1):45. PMCID: PMC5374604
  • O’Neill SC, Vadaparampil ST, Street RL Jr, Moore TF, Isaacs C, Han HS, Augusto B, Garcia J, Lopez K, Brilleman M, Jayasekera J, Eggly S. Characterizing patient-oncologist communication in genomic tumor testing: The 21-gene recurrence score as an exemplar. Patient Educ Couns. 2021 Feb;104(2):250-256. PMID: 32900604
  • Potosky AL, O’Neill SC, Isaacs C, Tsai HT, Chao C, Liu C, Ekezue BF, Selvam N, Kessler LG, Zhou Y, Schwartz MD. Population-based study of the effect of gene expression profiling on adjuvant chemotherapy use in breast cancer patients under the age of 65 years. Cancer. 2015 Nov 15;121(22):4062-70. PMCID: PMC4635042
  • Spellman E, Sulayman N, Eggly S, Peshkin BN, Isaacs C, Schwartz MD, O’Neill SC. Conveying genomic recurrence risk estimates to patients with early-stage breast cancer: oncologist perspectives. Psychooncology. 2013 Sep;22(9):2110-6. PMCID: PMC3757108
  • Sulayman N, Spellman E, Graves KD, Peshkin BN, Isaacs C, Schwartz MD, O’Neill SC. Psychosocial and quality of life in women receiving the 21-gene recurrence score assay: The impact of decision style in women with intermediate RS. J Cancer Epidemiol. 2012;2012:728290. PMCID: PMC3413972

Health Policy and Ethical Issues

  • Beisel C, Poretta T, Sheppard VB, Hurtado-de Mendoza A, Sipsma H, Fuqua E, Stwalley B, Salvatore A, Yang M. Adherence to adjuvant therapy in patients with resected melanoma: an application of the theory of planned behavior. Adv Ther. 2022 Sep;39(9):4061-4075. PMCID: PMC9402483
  • Biesecker BB, Schwartz MD, Marteau TM. Enhancing informed choice to undergo health screening: a systematic review. Am J Health Behav. 2013 May;37(3):351-9. Review. PMCID: PMC3761400
  • Chandler Y, Schechter CB, Jayasekera J, Near A, O’Neill SC, Isaacs C, Phelps CE, Ray GT, Lieu TA, Ramsey S, Mandelblatt JS. Cost effectiveness of gene expression profile testing in community practice. J Clin Oncol. 2018 Feb;36(6):554-562. PMCID: PMC5815401
  • Chang Y, Near AM, Butler KM, Hoeffken A, Edwards SL, Stroup AM, Kohlmann W, Gammon A, Buys SS, Schwartz MD, Peshkin BN, Kinney AY, Mandelblatt JS. ReCAP: Economic evaluation alongside a clinical trial of telephone versus in-person genetic counseling for BRCA1/2 mutations in geographically underserved areas. J Oncol Pract. 2016 Jan;12(1):59, e1-13. PMCID: PMC4960460
  • Graves KD, Hall MJ, Tercyak KP. Introduction to the Special Issue on Clinical and Public Health Genomics: Opportunities for translational behavioral medicine research, practice, and policy. Transl Behav Med. 2018 Jan;8(1):4-6. PMCID: PMC6065537
  • Graves KD, Hay JL, O’Neill SC. The promise of using personalized genomic information to promote behavior change: is the debate over, or just beginning? Per Med. 2014 Mar;11(2):173-185. PMID: 29751381
  • Hellwig LD, Turner C, O’Neill SC. Patient-centered care and genomic medicine: A qualitative provider study in the military health system. J Genet Couns. 2019 Oct;28(5):940-949. PMID: 31240828
  • Lynce F, Isaacs C. Population-based BRCA1/2 testing in Ashkenazi Jews: ready for prime time. J Natl Compr Canc Netw. 2016 Jun;14(6):809-12. PMCID: PMC5987769
  • Peshkin BN, Nusbaum RH, DeMarco TA. Genetic counseling about reproductive options for hereditary cancer: what is the standard of care? J Clin Oncol. 2007 Mar 1;25(7):911-2; author reply 913. PMID: 17327618 
  • Peshkin BN, Vadaparampil ST, Hoskins LM, O’Neill SM, Barter JF. Genetic counseling and testing for hereditary cancer risk in young adult women: Facilitating autonomy and informed decision making is key. Gynecol Oncol Rep. 2015 Oct 20;14:44-5. PMCID: PMC4688888
  • Pollitz K, Peshkin BN, Bangit E, Lucia K. Genetic discrimination in health insurance: current legal protections and industry practices. Inquiry. 2007 Fall;44(3):350-68. PMID: 18038869 
  • Schwartz MD. Identification of BRCA1 and BRCA2 mutation carriers through a traceback framework: consent, privacy, and autonomy. J Clin Oncol. 2017 Jul 10;35(20):2226-2228. PMID: 28463631
  • Wood ME, Garber JE, Isaacs C, et al. Genetic testing for hereditary breast and ovarian cancer and the USPSTF recommendations. Breast J. 2019 Jul;25(4):575-577. PMID: 31280501

Updated on 8/29/2022