Scientific Publications

Selected publications published within the past six years 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 6/13/2024.

Topics Include:

Basic Science

  • Heeke AL, Elliott A, Feldman R, et al. Molecular characterization of ESR1 variants in breast cancer. Breast Cancer Res Treat. 2022;196(2):279-289. PMID: 36125660
  • Kanth P, Hazel MW, Schell JC, et al. Evaluation of EGFR and COX pathway inhibition in human colon organoids of serrated polyposis and other hereditary cancer syndromes. Fam Cancer. Published online April 12, 2024. PMID: 38609520.
  • 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.
  • Wu B, Qi L, Chiang HC, et al. BRCA1 deficiency in mature CD8+ T lymphocytes impairs antitumor immunity. J Immunother Cancer. 2023;11(2):e005852. PMCID: PMC9896206 (new window)

Clinical Issues in Hereditary Cancer and Non-Genetic Risk Modifiers

  • Acheampong T, Rodriguez CB, O’Neill SC, Agovino M, Lee Argov EJ, Tehranifar P. Scientific uncertainty and perceived mammography benefits in women screened for breast cancer. Cancer Causes and Control. 2023, Jul; 34 (7): 611-619. PMID: 37085746.
  • 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.
  • Conley CC, Rodriguez JD, Brownstein NC, O’Neill SC, Vadaparampil ST. Characteristics associated with healthcare disruptions during the COVID-19 pandemic for women in the United States at high risk for breast cancer. Prev Med Rep. 2022 Dec;30:101975. PMCID: PMC9446594.
  • 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. 2023 Feb;38(1):292-300. PMCID: PMC9124715.
  • Kanth P, Inadomi JM. Screening and prevention of colorectal cancer. BMJ. 2021 Sep 15;374:n1855. PMID: 34526356.
  • Kanth P, Yu Z, Keener MB, Koptiuch C, Kohlmann WK, Neklason DW, Westover M, Curtin K. Cancer risk in patients with and relatives of serrated polyposis syndrome and sporadic sessile serrated lesions. Am J Gastroenterol. 2022 Feb 1;117(2):336-342. PMID: 34889311.
  • 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.PMCID: PMC7863621.
  • 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. PMCID: PMC8634416.
  • Narod SA, Metcalfe K, Finch A, et al. The risk of skin cancer in women who carry BRCA1 or BRCA2 mutations. Hered Cancer Clin Pract. 2024;22(1):7. PMCID: PMC11089770 (new window)
  • Qian F, Rookus MA, Leslie G, 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;121(2):180-192. PMCID: PMC6738050 (new window)
  • Qian F, Wang S, Mitchell J, et al. Height and body mass index as modifiers of breast cancer risk in BRCA1/2 mutation carriers: a mendelian randomization study. J Natl Cancer Inst. 2019;111(4):350-364. PMCID: PMC6449171 (new window)
  • 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.
  • Silvestri V, Leslie G, Barnes DR, 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) [published correction appears in JAMA Oncol. 2020 Nov 1;6(11):1815]. JAMA Oncol. 2020;6(8):1218-1230. PMCID: PMC7333177 (new window).
  • Sivanushanthan S, Wu T, Wahl A, Li T, Luta G, Song JH, O’Neill SC, Conley CC. Patterns of screening mammography and breast MRI during the COVID-19 pandemic: A retrospective, chart-review study. Journal of Breast Imaging. 2023, Feb23; 5(3): 277-286. PMCID: PMC10202024 (new window).
  • 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.
  • 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.
  • 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.
  • Xia YY, Gronwald J, Karlan B, et al. Contraceptive use and the risk of ovarian cancer among women with a BRCA1 or BRCA2 mutation. Gynecol Oncol. 2022;164(3):514-521. PMID: 35063280

Disparities in Genetic and Genomic Testing

  • Bowen A, Gómez-Trillos S, Curran G, Graves KD, Sheppard VB, Schwartz MD, Peshkin BN, Campos C, Garcés N, Dash C, Aburto L, Valencia-Rojas N, Hernández G, Villa A, Cupertino P, Carrera P, Hurtado-de-Mendoza A. Advancing health equity: a qualitative study assessing barriers and facilitators of implementing hereditary breast and ovarian cancer risk screening tools in community-based organizations. J Genet Couns. 2023 Apr 16. PMID: 37062905.
  • 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.
  • Conley CC, Rivera Rivera JN, Castro-Figueroa EM, Moreno L, Dutil J, García JD, Ricker C, Quinn GP, Soliman H, Vadaparampil ST. Provider discussion of genetic counseling among high-risk Spanish-preferring Latina breast cancer survivors. Transl Behav Med. 2022 Oct 7;12(9):900-908. PMCID: PMC9540969.
  • Dash C, Mills M, Jones TD, Nwabukwu I, Beale J, Hamilton R, Hurtado de Mendoza A, O’Neill SC. Design and pilot implementation of the Achieving Cancer Equity through Identification, Testing and Screening (ACE-ITS) Program in an urban under-resourced population. Cancer. 2023, Sep; 129(S19): 3141-3151. PMID: 37691526.
  • Gómez-Trillos S, Sheppard VB, Graves KD, Song M, Anderson L, Ostrove N, Lopez K, Campos C, Gonzalez N, Hurtado-de-Mendoza A. Latinas’ knowledge of and experiences with genetic cancer risk assessment: barriers and facilitators. J Genet Couns. 2020 Aug;29(4):505-517.PMID: 31883202.
  • Gómez-Trillos S, Graves KD, Fiallos K, Schwartz MD, Peshkin BN, Hamilton H, Sheppard VB, Vadaparampil ST, Campos C, Cupertino AP, Alzamora MC, Lynce F, Hurtado-de-Mendoza A. Cultural adaptations to a telephone genetic counseling protocol and booklet for Latina breast cancer survivors at risk for hereditary breast and ovarian cancer. Transl Behav Med. 2023 Jan 24:ibac106.PMID: 36694918.
  • 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, 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, 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.
  • Sheppard VB, Sutton AL, Hurtado-De-Mendoza A, et al. Addressing disparities in the uptake of genetic counseling and testing in African American women; rationale, design and methods. Contemp Clin Trials. 2023;130:107210. PMID: 37142159.
  • 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.
  • Wang H, Chen LS, Hsiao HY, Hsiao SC, Han T, Chang E, Assoumou B, Wang JH. Chinese American and Non-Hispanic White breast cancer patients’ knowledge and use of BRCA testing. Int J Environ Res Public Health. 2023 Feb 15;20(4):3384. PMCID: PMC9959522.

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.
  • 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;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.
  • Tercyak KP, DeMarco TA, Schneider KA, et al. Results of a randomized controlled trial of a decision support intervention for disclosing maternal BRCA genetic test results to children and adolescents. PEC Innov. 2023;2:100129. PMCID: PMC10194096
  • 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, DeMarco TA, Schneider KA, et al. Results of a randomized controlled trial of a decision support intervention for disclosing maternal BRCA genetic test results to children and adolescents. PEC Innov. 2023;2:100129. PMCID: PMC10194096 (new window)

Genetic Counseling and Testing: Process, Uptake, and Outcomes

  • Armstrong J, Lynch K, Virgo KS, et al. 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;17(2):e226-e235. PMCID: PMC8202055 (new window)
  • 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. PMCID: PMC9902210.
  • 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. (Link)
  • 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.
  • Hasser E, Peshkin BN, Hamilton JG, Brower J, Ovadia H, Friedman Ross L, Sacca R, Tarini B, Domchek SM, Vittone S, Sleiman M Jr, Isaacs C, Knerr S, Wilfond BS, Tercyak KP. Measuring high-risk parents’ opinions about direct-to-consumer genetic testing for adult-onset inherited cancer syndromes in their adolescent and young adult children. J Genet Couns. 2023 Feb 7. PMID: 36748334.
  • 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. PMCID: PMC9920729.
  • 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.
  • O’Neill SC, Evans C, Hamilton RJ, et al. Information and support needs of young women regarding breast cancer risk and genetic testing: adapting effective interventions for a novel population. Fam Cancer. 2018;17(3):351-360. PMCID: PMC8156484 (new window)
  • 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.
  • 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 BRCA1/2-positive families. J Cancer Educ Off J Am Assoc Cancer Educ. 2019 Aug. PMCID: PMC7010546.
  • Schwartz MD, Peshkin BN, Isaacs C, et al. Pilot trial of streamlined genetic education and traceback genetic testing in prostate cancer survivors. J Natl Compr Canc Netw. 2023;21(12):1261-1268.e14. PMID: 38081141.
  • Schwartz MD, Peshkin BN, Isaacs C, et al. Randomized trial of proactive rapid genetic counseling versus usual care for newly diagnosed breast cancer patients. Breast Cancer Res Treat. 2018;170(3):517-524. PMCID: PMC6026034 (new window).
  • Wehbe A, Gonte MR, O’Neill SC, Amit-Yousif A, Purrington K, Manning M, Simon MS. 2023. Predictors of non-adherence to breast cancer screening guidelines in an urban comprehensive cancer center. Cancer Medicine, Jul; 12(14): 15482-15491. PMCID: PMC10417068 (new window).

Genetic Epidemiology Including Genetic Risk Modifiers

  • 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;22(10):1653-1666. PMCID: PMC7521995 (new window)
  • Dareng EO, Tyrer JP, Barnes DR, et al. Polygenic risk modeling for prediction of epithelial ovarian cancer risk [published correction appears in Eur J Hum Genet. 2022 Mar 22;:]. Eur J Hum Genet. 2022;30(3):349-362. PMCID: PMC8904525 (new window)
  • Fachal L, Aschard H, Beesley J, et al. Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes. Nat Genet. 2020;52(1):56-73. PMCID: PMC6974400 (new window)
  • Ferreira MA, Gamazon ER, Al-Ejeh F, et al. Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer. Nat Commun. 2019;10(1):1741. PMCID: PMC6465407 (new window)
  • Figlioli G, Bogliolo M, Catucci I, et al. The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer. NPJ Breast Cancer. 2019;5:38. PMCID: PMC6825205 (new window)
  • Friebel TM, Andrulis IL, Balmaña J, et al. BRCA1 and BRCA2 pathogenic sequence variants in women of African origin or ancestry. Hum Mutat. 2019;40(10):1781-1796. PMCID: PMC6764847 (new window)
  • Hakkaart C, Pearson JF, Marquart L, et al. Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers. Commun Biol. 2022;5(1):1061. PMCID: PMC9537519 (new window)
  • 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;23(9):1726-1737. PMCID: PMC8460445 (new window)
  • Lu Y, Beeghly-Fadiel A, Wu L, et al. A transcriptome-wide association study among 97,898 women to identify candidate susceptibility genes for epithelial ovarian cancer risk. Cancer Res. 2018;78(18):5419-5430. PMCID: PMC6139053 (new window)

Genomic Testing, Hereditary

  • Conley CC, Cheraghi N, Anderson A, et al. Patterns and predictors of referral for screening breast MRI: a mixed-methods study. J Womens Health (Larchmt). Published online March 14, 2024. PMID: 38484303.

Genomic Testing, Tumor/Somatic

  • Casasanta N, Kipnis ST, Linville L, et al. Relationship between hereditary cancer syndromes and oncotype DX recurrence score. Clin Breast Cancer. 2020;20(2):125-130. PMID: 31526714
  • Garcia-Recio S, Hinoue T, Wheeler GL, et al. Multiomics in primary and metastatic breast tumors from the AURORA US network finds microenvironment and epigenetic drivers of metastasis. Nat Cancer. 2023;4(1):128-147. PMCID: PMC9886551 (new window)
  • Jayasekera J, Sparano JA, Gray R, et al. Simulation modeling to extend clinical trials of adjuvant chemotherapy guided by a 21-gene expression assay in early breast cancer. JNCI Cancer Spectr. 2019;3(4):pkz062. PMCID: PMC7049983 (new window)
  • 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: PMC8425835.
  • 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.
  • Jayasekera J, Zhao A, Lowry K. Yeh J, Schwartz MD, O’Neill SC, Wernli K, Isaacs C, Kurian A, Stout N, Schechter C. Reassessing the benefits and harms of risk-reducing medication considering the persistent risk of breast cancer mortality in estrogen receptor positive breast cancer: A simulation modeling study. J Clin Oncol. 2023, Feb. 41 (4) 859-870. PMCID: 9901948.
  • Kyalwazi B, Yau C, Campbell MJ, et al. Race, gene expression signatures, and clinical outcomes of patients with high-risk early breast cancer. JAMA Netw Open. 2023;6(12):e2349646. PMCID: PMC10755617 (new window)
  • O’Neill SC, Taylor KL, Clapp J, et al. Multilevel influences on patient-oncologist communication about genomic test results: oncologist perspectives. J Health Commun. 2018;23(7):679-686. PMCID: PMC6310162 (new window)
  • 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.

Health Policy and Ethical Issues

  • Conley CC, Rodriguez JD, McIntyre M, et al. Self-reported barriers to screening breast MRI among women at high risk for breast cancer. Breast Cancer Res Treat. 2023;202(2):345-355. PMID: 37640965
  • 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.
  • Rodgers-Fouche L, Arora S, Ricker C, et al. Exploring stakeholders’ perspectives on implementing universal germline testing for colorectal cancer: findings from a clinical practice survey. JCO Precis Oncol. 2023;7:e2300440. PMCID: PMC10860957

Pharmacogenomics

  • Barnes DR, Tyrer JP, Dennis J, et al. Large-scale genome-wide association study of 398,238 women unveils seven novel loci associated with high-grade serous epithelial ovarian cancer risk. medRxiv. 2024;2024.02.29.24303243. PMID: 38496424
  • Bhatt M, Peshkin BN, Kazi S, et al. Pharmacogenomic testing in oncology: a health system’s approach to identify oncology provider perspectives. Pharmacogenomics. 2023;24(16):859-870. PMID: 37942634.
  • Geyer CE Jr, Garber JE, Gelber RD, et al. Overall survival in the OlympiA phase III trial of adjuvant olaparib in patients with germline pathogenic variants in BRCA1/2 and high-risk, early breast cancer. Ann Oncol. 2022;33(12):1250-1268. PMID: 36228963
  • Lee AJ, Hui AC, Walker AD, Peshkin BN, Swain SM, Smith DM. Evaluation of a longitudinal pharmacogenomics education on pharmacist knowledge in a multicampus healthcare system. Pharmacogenomics. 2022;23(3):173-182. PMID: 35042388
  • Smith DM, Namvar T, Brown RP, et al. Assessment of primary care practitioners’ attitudes and interest in pharmacogenomic testing. Pharmacogenomics. 2020;21(15):1085-1094. PMID: 32969759
  • Smith DM, Peshkin BN, Springfield TB, et al. Pharmacogenetics in Practice: Estimating the clinical actionability of pharmacogenetic testing in perioperative and ambulatory settings. Clin Transl Sci. 2020;13(3):618-627. PMCID: PMC7214646
  • Zhang H, Ahearn TU, Lecarpentier J, et al. Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses. Nat Genet. 2020;52(6):572-581. PMID: 32424353

Updated on 6/13/2024