Selected Publications

Complete list from PubMed

  • Cell-of-origin shapes tumor subtype in BRCA1 -associated triple-negative breast cancer.

    bioRxiv : the preprint server for biology. 2026 Sep 30;

    Authors: Lev T, Samy ALPA, Mallya S, Adam I, Pueschl D, Ma D, McMullen TP, Lev MS, Gonzalez JG, Longworth A, Nair A, Lu X, Godwin AK, James PA, Mai PL, Offit K, Thorne H, Antoniou AC, Chenevix-Trench G, Domchek SM, Chen XS, Lander AD, Lowengrub J, Nathanson KL, Kessenbrock K, Lawson DA

  • Mammography utilization and male breast cancer in BRCA1/2 carriers.

    medRxiv : the preprint server for health sciences. 2026 Sep 23;

    Authors: Davies MY, Tayeb M, Scarrow E, Phun J, Milavsky E, Orr C, Sore R, Lu DY, Symecko H, Ehsan S, Desai H, Hausler R, Wubbenhorst B, Doucette A, Gabriel PE, Nathanson KL, Edmonds CE, Robinson KW, Kelley MJ, Garraway IP, Zullig LL, Bayley EM, Moss HA, Schoen MW, McCarthy AM, Domchek SM, Zhang JQ, Maxwell KN

  • Treatment Outcomes of Radiation Therapy of Paragangliomas of the Head and Neck at a Single Institution.

    International journal of particle therapy. 2026 Sep;21:101956 Epub 2026 Aug 17;

    Authors: Abbasi AA, Lustig RA, Dorsey JF, Grady SM, Lee JYK, Kurtz GA, Shabason JE, Cengel KA, Bigelow DC, Brant JA, Ruckenstein MJ, Rassekh CH, Nathanson KL, Raper A, Huan Y, Alonso-Basanta M

  • Cancer prevalence in primary mitochondrial disease patients and their families.

    Therapeutic advances in rare disease. 2026 Jan-Dec;7:26330040261471914 Epub 2026 Jul 29;

    Authors: Dalwadi S, Engelhardt NM, Muraresku CC, Keith K, Valverde KD, Nathanson KL, Falk MJ

  • Long-Term Outcomes of Patients With BRCA+ or PALB2+ Pancreatic Cancer Treated With Maintenance Rucaparib: A Secondary Analysis of a Nonrandomized Clinical Trial.

    JAMA oncology. 2026 Jun 1;12(6):666-670;

    Authors: Reiss KA, Xia M, Akamandisa M, D'Andrea K, Wubbenhorst B, Lord CJ, Pettitt SJ, Tutt ANJ, Brown TJ, O'Hara MH, Schneider C, Teitelbaum U, Hannan Z, Hood R, Tondon R, Vonderheide RH, Domchek SM, Nathanson KL

  • Multi-ancestry transcriptome-wide association studies uncover insights into breast cancer genetics and biology.

    Nature communications. 2026 May 30;17(1);

    Authors: Ping J, Jia G, Cai Q, Guo X, Wang J, Tao R, Li B, Bauer JA, Xie Y, Ambs S, Barnard ME, Chen Y, Choi JY, Gao YT, Garcia-Closas M, Gu J, Hu JJ, Iwasaki M, John EM, Kweon SS, Li CI, Matsuda K, Matsuo K, Nathanson KL, Nemesure B, Olopade OI, Pal T, Park SK, Park B, Press MF, Sanderson M, Sandler DP, Yao S, Zheng Y, Ahearn T, Brewster AM, Falusi A, Hennis AJM, Ito H, Kubo M, Lee ES, Makumbi T, Mapoko BSE, Noh DY, O'Brien KM, Ojengbede O, Olshan AF, Park MH, Reid S, Yamaji T, Zirpoli G, Butler EN, Huang M, Low SK, Obafunwa J, Weinberg CR, Zhang H, Zhao H, Ambrosone CB, Cote ML, Huo D, Haiman CA, Kang D, Palmer JR, Troester MA, Shu XO, Long J, Zheng W

  • Comparative analysis of distinct genomic landscapes in young-onset gBRCA1/2 breast cancer.

    JCI insight. 2026 Jun 22;11(12) Epub 2026 Apr 28;

    Authors: Akamandisa MP, Xia M, Cheah W, Wubbenhorst B, D'Andrea KP, Fan M, Shilan JS, Pueschl D, Nayak A, McKenzie H, Tapper W, Copson ER, Cutress RI, Domchek SM, Eccles DM, Nathanson KL

  • Homologous recombination deficiency and hemizygosity drive resistance in breast cancer.

    Nature. 2026 Apr;652(8110):752-762 Epub 2026 Mar 4;

    Authors: Safonov A, Lee M, Brown DN, Boscolo Bielo L, Mehine M, Bandlamudi C, O'Leary B, Shao H, Vicente L, Muldoon D, Zhu A, Ros S, Marra A, Selenica P, Bieche I, Wubbenhorst B, Ferraro E, Courtois L, El Botty R, Ahmed M, Moiso E, An JA, Donoghue MTA, Will M, Pareja F, Nizialek E, Lukashchuk N, Sofianopoulou E, Liu Y, Huang X, Chappey C, Staniszewska AD, Ross D, Mandelker D, Ladanyi M, Schultz N, Berger MF, Scaltriti M, Reis-Filho JS, Li BT, Offit K, Norton L, Shen R, Maxwell KN, Couch F, Domchek SM, Marangoni E, Shah S, Albertella MR, Serra V, Weigelt B, Solit DB, Nathanson KL, Robson ME, Turner NC, Chandarlapaty S, Razavi P

  • A randomized study of digital versus genetic counselor return of actionable genetic research results to biobank participants (RESPECT3 study).

    BMC medical ethics. 2026 Mar 31;27(1);

    Authors: Godbole AR, Wood E, Egleston B, Hoffman-Andrews L, Brown S, Howe S, Shastri S, Mim R, Feng J, Owens A, Domchek S, Pyeritz R, Katona BW, Kallish S, Sirugo G, Weaver J, Fleisher L, Wen KY, Elkin E, Nathanson KL, Rader DJ, Bradbury AR

  • Improved polygenic risk prediction models for breast cancer subtypes in women of African ancestry.

    Nature genetics. 2026 Mar;58(3):560-569 Epub 2026 Feb 2;

    Authors: Li JL, Zhang H, Wang X, Jia G, McClellan JC, Guo W, Sun Y, Fiorica PN, Ambs S, Barnard ME, Chen Y, Garcia-Closas M, Gu J, Hu JJ, John EM, Nathanson KL, Nemesure B, Pal T, Shu XO, Press MF, Sanderson M, Sandler DP, Troester MA, Yao S, Long J, Ahearn TU, Brewster AM, Falusi A, Kraft P, Hennis AJM, Makumbi T, Mapoko BSE, O'Brien KM, Ojengbede O, Olshan AF, Reid S, Zirpoli G, Cai Q, Butler EN, Huang M, Obafunwa J, Weinberg CR, Ambrosone C, Ping J, Tao R, Li B, Guo X, Gao G, Conti DV, Chatterjee N, Palmer JR, Olopade OI, Zheng W, Haiman CA, Huo D

  • Immune gene diversity and STING1 variants in shaping cancer immunity across different genetic ancestry populations.

    Cell reports. 2026 Feb 24;45(2):116882 Epub 2026 Jan 21;

    Authors: Hu X, Huang J, Yuan J, Sun Y, Wang Y, Hu Z, Jiang J, Wang Z, Wang B, Long M, Maxwell KN, Fan Y, Tanyi JL, Montone KT, Li H, Kim SH, Nathanson KL, Rebbeck TR, Domchek SM, Vonderheide RH, Zhang L

  • Association of Y-chromosomal gr/gr deletions with testicular germ cell tumor: whole-genome analysis of 198,306 individuals.

    medRxiv : the preprint server for health sciences. 2026 Feb 5;

    Authors: Choi S, Rocca MS, Vinanzi C, Pluta J, Kuzbari Z, Loveday C, Allen S, Torr B, Weathers B, Anson-Cartwright L, Feldman DR, Gietema JA, Gonzalez-Neira A, Hamilton RJ, Krausz C, Moirano G, Nead KT, Nsengimana J, Poynter JN, Vaughn DJ, Kanetsky PA, Nathanson KL, Ferlin A, Turnbull C, Rowlands CF

  • Large-scale meta-analysis and precision functional assays identify FANCM regions in which PTVs confer different risks for ER-negative and triple-negative breast cancer.

    Breast (Edinburgh, Scotland). 2026 Feb;85:104619 Epub 2025 Oct 30;

    Authors: Billaud A, Figlioli G, Mooser C, Casamassima I, Azzoni V, Srivatsa J, Colombo M, Caleca L, Ahearn TU, Andrulis IL, Antoniou AC, Beckmann MW, Behrens S, Bermisheva M, Bogdanova NV, Bolla MK, Bonanni B, Brüning T, Camp NJ, Campbell A, Castelao JE, Cessna MH, Chang-Claude J, NBCS Collaborators, Czene K, Dennis J, Devilee P, Dörk T, Dunning AM, Eriksson M, Evans DG, Fasching PA, Figueroa JD, Gabrielson M, Gago-Dominguez M, González-Neira A, Guénel P, Hadjisavvas A, Hahnen E, Hamann U, Hillemanns P, Hollestelle A, Hooning MJ, Hoppe R, Howell A, kConFab Investigators, Jakubowska A, Kristensen VN, Lubiński J, Lush M, Manoukian S, Mavroudis D, Milne RL, Mulligan AM, Newman WG, Obi N, Panayiotidis MI, Pita G, Rashid MU, Rhenius V, Saloustros E, Sawyer EJ, Schmutzler RK, Shah M, Southey MC, Spurdle AB, Tomlinson I, Truong T, Wang Q, Wendt C, Auer PL, Boddicker NJ, Bodelon C, Burnside ES, Chen F, Couch FJ, Domchek SM, Eliassen HA, Haiman C, Hodge JM, Hu C, Huang H, Lindstrom S, Martinez ME, Nathanson KL, Neuhausen SL, O'Brien KM, Olson JE, Palmer JR, Patel AV, Ruddy KJ, Sandler DP, Teras LR, Weinberg CR, Weitzel JN, Winham SJ, Yadav S, Yao S, Zirpoli G, Janatova M, Kleibl Z, Kleiblova P, Soukupova J, CZECANCA consortium, Zhao Q, Devereux L, James PA, Campbell IG, Nguyen-Dumont T, Dowty JG, Andrieu N, Lesueur F, Stoppa-Lyonnet D, GENESIS, Hoya M, Radice P, Sørensen CS, Peterlongo P

  • CD4(+) T cells mediate CAR-T cell-associated immune-related adverse events after BCMA CAR-T cell therapy.

    Nature medicine. 2026 Feb;32(2):702-716 Epub 2026 Jan 15;

    Authors: Ho M, Paruzzo L, Noll JH, Stella F, Devi P, Ndeupen S, Day YA, Chen GM, Cohen IJ, Ramirez-Fernandez A, Waxman A, Kapur S, Chen F, Xu R, Huff A, Jarocha D, Patel V, Bochi-Layec AC, Ramasubramanian R, Liu S, Bouvier R, de Souza VB, Patel H, Li Z, Carturan A, Michener P, Hopkins CR, Koucky O, Minehart J, Dimitri A, Nabar NR, Hasanali ZS, Ciccarelli BT, Hung P, Williams E, Bartoszek R, Lavorando M, Mohan S, Gonzalez VE, Porazzi P, Bhoj VG, Apostolidis SA, Vogl DT, Porter DL, Scholler J, Diorio C, Roche AM, Everett JK, Bushman FD, Nathanson KL, Stadtmauer EA, Susanibar-Adaniya SP, Garfall AL, Ruella M, Cohen AD, Fraietta JA

  • Metastatic progression of pheochromocytoma and paraganglioma occurs via parallel evolution.

    NPJ precision oncology. 2026 Jan 31;10(1);

    Authors: Pregnall AM, Wubbenhorst B, D'Andrea K, Pluta J, Amjad W, Shilan J, Cohen DL, Weathers B, Bennett B, Bonanni M, Montone K, Nathanson KL, Wachtel H

  • Racial and socioeconomic disparities in genetic evaluation and testing in the adult patient population.

    American journal of human genetics. 2026 Jan 8;113(1):29-40 Epub 2025 Dec 19;

    Authors: Gold JI, Elkaim Y, Gold NB, Asher S, Raper A, Condit C, Bogus Z, Elysee I, Hennessy L, Kennedy E, Briere LC, Sweetser DA, Kripke C, Verma A, Salmasian H, Landry L, Nathanson KL, Kallish S, Drivas TG

  • The Testicular Cancer Consortium (TECAC): Filling Knowledge Gaps in the Genetic Etiology of Testicular Germ Cell Tumors.

    Andrology. 2026 Jan 4;:e70168;

    Authors: Kanetsky PA, Almstrup K, Cherlin S, Cortessis VK, Ferlin A, Gietema JA, González-Neira A, Grotmol T, Hamilton RJ, Haugen TB, Kiemeney LA, Kim J, Krausz C, Lessel D, Lothe RA, Nead KT, Nsengimana J, Poynter JN, Rajpert-DeMeyts E, Richiardi L, Schwartz SM, Skotheim RI, Stewart DR, Turnbull C, Wiklund F, Zheng T, Nathanson KL, McGlynn KA, Testicular Cancer Consortium

  • Pathogenic Variants, Family History, and Cumulative Risk of Breast Cancer in US Women.

    JAMA oncology. 2025 Dec 1;11(12):1458-1469;

    Authors: O'Brien KM, Keil AP, Taylor JA, Weinberg CR, Polley EC, Yadav S, Boddicker NJ, Hu C, Ambrosone CB, Anton-Culver H, Auer PL, Bodelon C, Brantley K, Burnside ES, Chen F, Domchek SM, Eliassen AH, Haiman CA, Hodge JM, Kraft P, Lacey JV, Lindstroem S, Martinez ME, Nathanson KL, Neuhausen SL, Olson JE, Palmer JR, Patel AV, Penney KL, Ruddy KJ, Scott CG, Teras LR, Trentham-Dietz A, Vachon CM, Weitzel JN, Yao S, Zirpoli G, Couch FJ, Sandler DP

  • An electronic review of clinical outcomes after return of actionable genetic research results from a health system research biobank.

    European journal of medical genetics. 2025 Dec;78:105061 Epub 2025 Nov 13;

    Authors: Cocchella G, Phung L, Wood E, Egleston B, Hoffman-Andrews L, Brown S, Ofidis D, Mim R, Griffin H, Fetzer D, Owens A, Domchek S, Pyeritz R, Katona BW, Kallish S, Sirugo G, Weaver J, Nathanson KL, Rader DJ, Bradbury AR

  • Genomic Ascertainment of CHEK2-Related Cancer Predisposition.

    JAMA network open. 2025 Dec 1;8(12):e2549730;

    Authors: Kim SY, Kim J, Ramos M, Haley J, Smelser D, Rao HS, Mirshahi UL, Nathanson KL, Graubard BI, Katki HA, Carey D, Stewart DR, Geisinger-Regeneron DiscovEHR Collaboration and Penn Medicine Biobank

  • Exploration of possible association of BRIP1 pathogenic variants with central nervous system cancers in an institutional cohort.

    Journal of medical genetics. 2025 Oct 20;62(11):720-723;

    Authors: Cappadocia J, Maxwell KN, Nathanson KL, Bagley S, Powers J, Halper-Stromberg E, Roth JJ, Domchek S, Shah PD

  • Practice-Based Insights into Adult Genetics: High Diagnostic Yield, Demographic Determinants, and Patterns of Test Utilization in Over 7,000 Patients.

    medRxiv : the preprint server for health sciences. 2025 Oct 10;

    Authors: Gold JI, Elkaim Y, Asher S, Raper A, Condit C, Bogus Z, Elysee I, Hennessy L, Kennedy E, Chai T, Cohen S, Gehringer BN, Gray SM, Streater A, Toye E, Kripke C, Nathanson KL, Rohanizadegan M, Kallish S, Drivas TG

  • Assessment of barriers to pancreatic cancer surveillance in high-risk individuals.

    Journal of genetic counseling. 2025 Oct;34(5):e70117;

    Authors: 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

  • Author Correction: Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus.

    Nature communications. 2025 Sep 8;16(1):8237;

    Authors: Lawrenson K, Kar S, McCue K, Kuchenbaeker K, Michailidou K, Tyrer J, Beesley J, Ramus SJ, Li Q, Delgado MK, Lee JM, Aittomäki K, Andrulis IL, Anton-Culver H, Arndt V, Arun BK, Arver B, Bandera EV, Barile M, Barkardottir RB, Barrowdale D, Beckmann MW, Benitez J, Berchuck A, Bisogna M, Bjorge L, Blomqvist C, Blot W, Bogdanova N, Bojesen A, Bojesen SE, Bolla MK, Bonanni B, Børresen-Dale AL, Brauch H, Brennan P, Brenner H, Bruinsma F, Brunet J, Buhari SA, Burwinkel B, Butzow R, Buys SS, Cai Q, Caldes T, Campbell I, Cannioto R, Chang-Claude J, Chiquette J, Choi JY, Claes KBM, GEMO Study Collaborators, Cook LS, Cox A, Cramer DW, Cross SS, Cybulski C, Czene K, Daly MB, Damiola F, Dansonka-Mieszkowska A, Darabi H, Dennis J, Devilee P, Diez O, Doherty JA, Domchek SM, Dorfling CM, Dörk T, Dumont M, Ehrencrona H, Ejlertsen B, Ellis S, EMBRACE, Engel C, Lee E, Evans DG, Fasching PA, Feliubadalo L, Figueroa J, Flesch-Janys D, Fletcher O, Flyger H, Foretova L, Fostira F, Foulkes WD, Fridley BL, Friedman E, Frost D, Gambino G, Ganz PA, Garber J, García-Closas M, Gentry-Maharaj A, Ghoussaini M, Giles GG, Glasspool R, Godwin AK, Goldberg MS, Goldgar DE, González-Neira A, Goode EL, Goodman MT, Greene MH, Gronwald J, Guénel P, Haiman CA, Hall P, Hallberg E, Hamann U, Hansen TVO, Harrington PA, Hartman M, Hassan N, Healey S, Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON), Heitz F, Herzog J, Høgdall E, Høgdall CK, Hogervorst FBL, Hollestelle A, Hopper JL, Hulick PJ, Huzarski T, Imyanitov EN, KConFab Investigators, Australian Ovarian Cancer Study Group, Isaacs C, Ito H, Jakubowska A, Janavicius R, Jensen A, John EM, Johnson N, Kabisch M, Kang D, Kapuscinski M, Karlan BY, Khan S, Kiemeney LA, Kjaer SK, Knight JA, Konstantopoulou I, Kosma VM, Kristensen V, Kupryjanczyk J, Kwong A, de la Hoya M, Laitman Y, Lambrechts D, Le N, De Leeneer K, Lester J, Levine DA, Li J, Lindblom A, Long J, Lophatananon A, Loud JT, Lu K, Lubinski J, Mannermaa A, Manoukian S, Le Marchand L, Margolin S, Marme F, Massuger LFAG, Matsuo K, Mazoyer S, McGuffog L, McLean C, McNeish I, Meindl A, Menon U, Mensenkamp AR, Milne RL, Montagna M, Moysich KB, Muir K, Mulligan AM, Nathanson KL, Ness RB, Neuhausen SL, Nevanlinna H, Nord S, Nussbaum RL, Odunsi K, Offit K, Olah E, Olopade OI, Olson JE, Olswold C, O'Malley D, Orlow I, Orr N, Osorio A, Park SK, Pearce CL, Pejovic T, Peterlongo P, Pfeiler G, Phelan CM, Poole EM, Pylkäs K, Radice P, Rantala J, Rashid MU, Rennert G, Rhenius V, Rhiem K, Risch HA, Rodriguez G, Rossing MA, Rudolph A, Salvesen HB, Sangrajrang S, Sawyer EJ, Schildkraut JM, Schmidt MK, Schmutzler RK, Sellers TA, Seynaeve C, Shah M, Shen CY, Shu XO, Sieh W, Singer CF, Sinilnikova OM, Slager S, Song H, Soucy P, Southey MC, Stenmark-Askmalm M, Stoppa-Lyonnet D, Sutter C, Swerdlow A, Tchatchou S, Teixeira MR, Teo SH, Terry KL, Terry MB, Thomassen M, Tibiletti MG, Tihomirova L, Tognazzo S, Toland AE, Tomlinson I, Torres D, Truong T, Tseng CC, Tung N, Tworoger SS, Vachon C, van den Ouweland AMW, van Doorn HC, van Rensburg EJ, Van't Veer LJ, Vanderstichele A, Vergote I, Vijai J, Wang Q, Wang-Gohrke S, Weitzel JN, Wentzensen N, Whittemore AS, Wildiers H, Winqvist R, Wu AH, Yannoukakos D, Yoon SY, Yu JC, Zheng W, Zheng Y, Khanna KK, Simard J, Monteiro AN, French JD, Couch FJ, Freedman ML, Easton DF, Dunning AM, Pharoah PD, Edwards SL, Chenevix-Trench G, Antoniou AC, Gayther SA

  • CH Mutations in 16,812 Advanced Cancer Patients-Letter.

    Clinical cancer research : an official journal of the American Association for Cancer Research. 2025 Aug 14;31(16):3594-3596;

    Authors: Antonarakis ES, Nathanson KL, Reiss KA, Pritchard CC, Berchuck JE, Johnson K, Brown DW, Tukachinsky H

Last retrieved from PubMed: October 12, 2026 12:05 PM EDT