Selected Publications

Cappadocia J, Maxwell KN, Nathanson KL, Bagley S, Powers J, Halper-Stromberg E, Roth JJ, Domchek S, Shah PD: Exploration of possible association of BRIP1 pathogenic variants with central nervous system cancers in an institutional cohort. J Med Genet 62(11): 720-723, Oct 2025.

Snyder GG, Clay D, Karley S, Pipito S, Mueller R, Bradbury A, Maxwell K, Nathanson KL, Rohanizadegan M, Shah P, Domchek SM, Long JM, Katona BW: Assessment of barriers to pancreatic cancer surveillance in high-risk individuals. J Genet Couns 34(5), Oct 2025.

Cappadocia J, Maxwell KN, Nathanson KL, Bagley S, Powers J, Halper-Stromberg E, Roth JJ, Domchek S, Shah PD: Exploration of possible association of BRIP1 pathogenic variants with central nervous system cancers in an institutional cohort. J Med Genet Aug 2025 Notes: Online ahead of print.

Akamandisa MP, Boddicker NJ, Yadav S, Hu C, Hart SN, Ambrosone CB, Anton-Culver H, Auer PL, Bodelon C, Burnside ES, Chen F, Eliassen AH, Goldgar DE, Haiman C, Hodge JM, Huang H, John EM, Karam R, Lacey JV, Lindstroem S, Martinez ME, Na J, Neuhausen SL, O'Brien KM, Olson JE, Pal T, Palmer JR, Patel AV, Pesaran T, Polley EC, Richardson ME, Ruddy KJ, Sandler DP, Teras LR, Trentham-Dietz A, Vachon CM, Weinberg C, Winham SJ, Yao S, Zirpoli G, Kraft P, Weitzel JN, Domchek SM, Couch FJ, Nathanson KL: Association of gene variant type and location with breast cancer risk in the general population. Ann Oncol 36(8): 954-963, Aug 2025.

Mahmoud MA, Ehsan S, Ginzberg SP, Domchek SM, Nathanson KL, Conant EF, Kontos D, Chen J, Edmonds CE, Fayanju OM, McCarthy AM: Racial Differences in Screening Eligibility by Breast Density After State-Level Insurance Expansion. JAMA Netw Open 8(8): e2525216, Aug 2025.

Anbil S, Seewald NJ, Chiorean EG, Hussein M, Kasi PM, Laux DE, Schwartz GK, Shapiro GI, Lin KK, Craib M, Maloney L, McLachlan K, Tukachinsky H, Schrock AB, Wang S, Sokol ES, Decker B, Nathanson KL, Domchek SM, Reiss KA: LODESTAR: A Single-Arm Phase II Study of Rucaparib in Solid Tumors With Pathogenic Germline or Somatic Variants in Homologous Recombination Repair Genes. JCO Precis Oncol 9: e2500090, Jul 2025.

Zanti M, O'Mahony DG, Parsons MT, Dorling L, Dennis J, Boddicker NJ, Chen W, Hu C, Naven M, Yiangou K, Ahearn TU, Ambrosone CB, Andrulis IL, Antoniou AC, Auer PL, Baynes C, Bodelon C, Bogdanova NV, Bojesen SE, Bolla MK, Brantley KD, Camp NJ, Campbell A, Castelao JE, Cessna MH, Chang-Claude J, Chen F, Chenevix-Trench G; NBCS Collaborators; Conroy DM, Czene K, De Nicolo A, Domchek SM, Dörk T, Dunning AM, Eliassen AH, Evans DG, Fasching PA, Figueroa JD, Flyger H, Gago-Dominguez M, García-Closas M, Glendon G, González-Neira A, Grassmann F, Hadjisavvas A, Haiman CA, Hamann U, Hart SN, Hartman MBA, Ho WK, Hodge JM, Hoppe R, Howell SJ; kConFab Investigators; Jakubowska A, Khusnutdinova EK, Ko YD, Kraft P, Kristensen VN, Lacey JV, Li J, Lim GH, Lindström S, Lophatananon A, Luccarini C, Mannermaa A, Martinez ME, Mavroudis D, Milne RL, Muir K, Nathanson KL, Nuñez-Torres R, Obi N, Olson JE, Palmer JR, Panayiotidis MI, Patel AV, Pharoah PDP, Polley EC, Rashid MU, Ruddy KJ, Saloustros E, Sawyer EJ, Schmidt MK, Southey MC, Tan VK, Teo SH, Teras LR, Torres D, Trentham-Dietz A, Truong T, Vachon CM, Wang Q, Weitzel JN, Yadav S, Yao S, Zirpoli GR, Cline MS, Devilee P, Tavtigian SV, Goldgar DE, Couch FJ, Easton DF, Spurdle AB, Michailidou K: Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification. Nat Commun 16(1): 4852, May 2025.

Safonov A, Nomakuchi TT, Chao E, Horton C, Dolinsky JS, Yussuf A, Richardson M, Speare V, Li S, Bogus ZC, Bonanni M, Raper A, Odia T, Wubbenhorst BS, Faulders E, Schuth EM, Loranger K, Zhang J, Scalise CB, ElNaggar A, Sha Y, Felker SA, Weitzel J, Kallish S, Ritchie MD; Penn Medicine BioBank; Nathanson KL*, Drivas TG*. *shared last author: A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations. Nat Commun 16(1): 3121, Apr 2025.

Ugalde-Morales E, Wilf R, Pluta J, Ploner A, Fan M, Damra M, Aben KK, Anson-Cartwright L, Chen C, Cortessis VK, Daneshmand S, Ferlin A, Gamulin M, Gietema JA, Gonzalez-Niera A, Grotmol T, Hamilton RJ, Harland M, Haugen TB, Hauser R, Hildebrandt MAT, Karlsson R, Kiemeney LA, Kim J, Lessel D, Lothe RA, Loveday C, Chanock SJ, McGlynn KA, Meijer C, Nead KT, Nsengimana J, Popovic M, Rafnar T, Richiardi L, Rocca MS, Schwartz SM, Skotheim RI, Stefansson K, Stewart DR, Turnbull C, Vaughn DJ, Winge SB, Zheng T, Monteiro AN, Almstrup K, Kanetsky PA, Nathanson KL, Wiklund F for the Testicular Cancer Consortium: Identification of genes associated with testicular germ cell tumor susceptibility through a transcriptome-wide association study Am J Hum Genet 112(3): 630-643, Mar 2025.

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 43(4): 433-431, Feb 2025.