Scientific Publications

Selected publications published within the past five 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 4/2/2025.

Topics Include:

Basic Science

  • 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.

Clinical Issues in Hereditary Cancer and Non-Genetic Risk Modifiers

  • 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.
  • 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.
  • 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
  • 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 
  • 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, … 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) [published correction appears in JAMA Oncol. 2020 Nov 1;6(11):1815]. JAMA Oncol. 2020;6(8):1218-1230. PMCID: PMC7333177  .
  • 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.

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.
  • 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. 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.
  • 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.
  • Zamir T, Statman MR, Sleiman MM Jr, Fleischmann A, Silber E, Tercyak KP. Patient navigation in mothers at risk for and surviving with breast/ovarian cancer: the role of children’s ages in program utilization and health outcomes. Healthcare (Basel). 2024;12(22):2317. PMCID: PMC11593791 .

Genetic Counseling and Testing: Process, Uptake, and Outcomes

  • Armstrong J, Lynch K, Virgo KS, … Schwartz MD,… 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 .
  • 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.
  • Chaillet KS, Sleiman MM Jr, Yockel MR, et al. Effects of personal cancer history and genomic risk information on mothers’ psychological adaptation to inherited breast/ovarian cancer syndrome. Psychol Health Med. 2025;30(2):297-308. PMCID: PMC11750615.
  • Conley CC, Rodriguez JD, McIntyre M, Niell BL, O’Neill SC, Vadaparampil ST. Strategies for identifying and recruiting women at high risk for breast cancer for research outside of clinical settings: observational study. J Med Internet Res. 2024;26:e54450. PMCID: PMC11406107 .
  • Grisham C, Peshkin BN, Sorgen L, et al. Streamlined genetic education and cascade testing in men from hereditary breast ovarian cancer families: a randomized trial. Public Health Genomics. 2024;27(1):100-109. PMID: 39173603.
  • 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.
  • Kilbride MK, Peshkin BN, Hamilton JG, et al. Pediatric DTC genetic testing for adult-onset inherited cancer risk: the perspectives of high-risk parents. Public Health Genomics. 2025;28(1):102-112. PMCID: PMC11867838.
  • 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, Schwartz 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, 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.
  • 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.
  • Sleiman MM Jr, Yockel MR, Fleischmann A, et al. The role of peer support and patient navigation for empowerment in breast cancer survivors: implications for community cancer control. J Psychosoc Oncol Res Pract. 2024;6(2):128. PMCID: PMC11507469 .
  • 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  .

Genetic Epidemiology Including Genetic Risk Modifiers

  • Barnes DR, Rookus MA, McGuffog L, … Isaacs C, …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 .
  • Barnes DR, Tyrer JP, Dennis J, … Peshkin BN, …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.
  • Dareng EO, Tyrer JP, Barnes DR, … Peshkin BN, …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 .
  • Fachal L, Aschard H, Beesley J, … Isaacs C, …et al. Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes. Nat Genet. 2020;52(1):56-73. PMCID: PMC6974400 .
  • Hakkaart C, Pearson JF, Marquart L, … Isaacs C, … 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 .
  • Lakeman IMM, van den Broek AJ, Vos JAM, … Isaacs C, … 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 .
  • Zhang H, Ahearn TU, Lecarpentier J, … Isaacs C, … 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.

Genomic Testing, Hereditary

Genomic Testing, Tumor/Somatic

  • Casasanta N, Kipnis ST, Linville L, … Isaacs C, … et al. Relationship between hereditary cancer syndromes and oncotype DX recurrence score. Clin Breast Cancer. 2020;20(2):125-130. PMID: 31526714
  • 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.
  • Kyalwazi B, Yau C, Campbell MJ, … Isaacs C, … 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 
  • 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.
  • Conley CC, Anderson A, Rodriguez JD, et al. Barriers and facilitators to breast cancer screening among high-risk women: a qualitative study. Breast Cancer Res Treat. 2025;209(1):61-71. PMCID: PMC11786993.
  • Huq MR, Schwartz MD, Derry-Vick H, et al. Cancer survivor preferences on the timing and content of interventions to mitigate financial toxicity associated with cancer treatment. Support Care Cancer. 2024;32(12):778. PMCID: PMC11627591.
  • Rodgers-Fouche L, Arora S, Ricker C, … Kanth P,… 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

  • 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.
  • 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,… Peshkin BN,… 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.
  • Smith DM, Beyene R, Kolm P, … Peshkin BN,… et al. A randomized hybrid-effectiveness trial comparing pharmacogenomics (PGx) to standard care: The PGx applied to chronic pain treatment in primary care (PGx-ACT) trial. Clin Transl Sci. 2025;18(2):e70154. PMCID: PMC11805805 .

Updated on 4/2/2025