Selected Publications

Huang H, Couch RE, Karam R, Hu C, Boddicker N, Polley EC, Na J, Ambrosone CB, Yao S, Trentham-Dietz A, Eliassen AH, Penney K, Brantley K, Bodelon C, Teras LR, Hodge J, Patel A, Haiman CA, John EM, Neuhausen SL, Martinez E, Lacey JV, O'Brien KM, Sandler DP, Weinberg CR, Palmer JR, Bertrand KA, Vachon CM, Olson JE, Ruddy KE, Anton-Culver H, Ziogas A, Goldgar DE, Nathanson KL, Domchek SM, Weitzel JN, Kraft P, Dolinsky JS, Pesaran T, Richardson ME, Yadav S, Couch FJ: Pathogenic variants in cancer susceptibility genes predispose to Ductal Carcinoma In situ of the breast. Clin Cancer Res Nov 2024 Notes: Online ahead of print.

Phillips KA, Kotsopoulos J, Domchek SM, Terry MB, Chamberlain JA, Bassett JK, Aeilts AM, Andrulis IL, Buys SS, Cui W, Daly MB, Eisen AF, Foulkes WD, Friedlander ML, Gronwald J, Hopper JL, John EM, Karlan BY, Kim RH, Kurian AW, Lubinski J, Metcalfe K, Nathanson KL, Singer CF, Southey MC, Symecko H, Tung N, Narod SA, Milne RL; Kathleen Cuningham Foundation Consortium for Research Into Familial Breast Cancer, the Risk Factor Analysis of Hereditary Breast and Ovarian Cancer Study, the Basser Center University of Pennsylvania Registry, and the Breast Cancer Family Registry; Kathleen Cuningham Foundation Consortium for Research Into Familial Breast Cancer, the Risk Factor Analysis of Hereditary Breast and Ovarian Cancer Study, the Basser Center University of Pennsylvania Registry and the Breast Cancer Family Registry.: Hormonal Contraception and Breast Cancer Risk for Carriers of Germline Mutations in BRCA1 and BRCA2. J Clin Oncol Oct 2024 Notes: Online ahead of print.

Chow RD, Parikh RB, Nathanson KL.: Phenotypic evaluation of deep learning models for classifying germline variant pathogenicity. NPJ Precis Oncol 1(8): 235, Oct 2024.

Rowlands CF, Allen S, Balmaña J, Domchek SM, Evans DG, Hanson H, Hoogerbrugge N, James PA, Nathanson KL, Robson M, Tischkowitz M, Foulkes WD, Turnbull C: Population-based germline breast cancer gene association studies and meta-analysis to inform wider mainstream testing. Ann Oncol 35(10): 892-901, Oct 2024.

Powers J, Wachtel H, Trujillo E, Desai H, Hausler R, Conway L, Wubbenhorst B; Penn Medicine BioBank; Regeneron Genetics Center; Domchek SM, Nathanson KL, Maxwell KN: Multi-ethnic heterozygote frequencies of cancer susceptibility genes to inform counseling of reproductive risk. Genet Med Oct 2024 Notes: Online ahead of print.

Schnoll R, Bekelman JE, Blumenthal D, Asch DA, Buttenheim AM, Chaiyachati KH, Domchek SM, Fayanju OM, Gabriel P, Jenssen BP, Leone FT, McCarthy AM, Nathanson KL, Parikh RB, Rendle KA, Shelton RC, Shulman LN, Takvorian SU, Ware S, Wileyto EP, Beidas RS: Using the Translational Science Benefits Model to assess the impact of the Penn Implementation Science Center in Cancer Control. J Clin Transl Sci 8(1): e166, Oct 2024.

Phung L, Wood E, Egleston B, Hoffman-Andrews L, Ofidis D, Howe S, Mim R, Griffin H, Fetzer D, Owens A, Domchek S, Pyeritz R, Katona B, Kallish S, Sirugo G, Weaver J, Nathanson KL, Rader DJ, Bradbury AR: Facilitating return of actionable genetic research results from a biobank repository: Participant uptake and utilization of digital interventions. HGG Adv 5(4): 100346, Oct 2024.

Kalia SS, Boddicker NJ, Yadav S, Huang H, Na J, Hu C, Ambrosone CB, Yao S, Haiman CA, Chen F, John EM, Kurian AW, Guo B, Lindström S, Auer P, Lacey JV, Neuhausen SL, Martinez ME, Sandler DP, O'Brien KM, Taylor JA, Teras LR, Hodge JM, Lori A, Bodelon C, Trentham-Dietz A, Burnside ES, Vachon CM, Winham SJ, Goldgar DE, Domchek SM, Nathanson KL, Weitzel JN, Couch FJ, Kraft P: Development of a breast cancer risk prediction model integrating monogenic, polygenic, and epidemiologic risk. Cancer Epidemiol Biomarkers Prev Sep 2024 Notes: Online ahead of print.

Abbott JJ, Jiang AJ, Godse R, Ahmed S, Senft SC, Wilson MA, Cohen JV, Mitchell TC, Ogunleye TA, Higgins HW 2nd, Shin TM, Miller CJ, Roth JJ, Priore SF, Castelo-Soccio L, Elenitsas R, Seykora JT, Nathanson KL, Chu EY: Inherited Basaloid Neoplasms Associated With SUFU Pathogenic Variants. JAMA Dermatol Sep 2024 Notes: Online ahead of print.

Raper A, Weathers B, Drivas T, Ellis CA, Morse Kripke C, Oyer R, Owens AT, Verma A, Wileyto EP, Wollack C, Zhou W, Ritchie MD, Schnoll RA, Nathanson KL : Protocol for a Type 3 Hybrid Implementation Cluster Randomized Clinical Trial to Evaluate the Effect of Patient and Clinician Nudges to Advance the Use of Genomic Medicine across a Diverse Health System. Implement Sci 19(1): 61, Aug 2024.