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Page 1
Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification.
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 D… See abstract for full author list ➔ Zanti M, et al. Among authors: nathanson kl. medRxiv [Preprint]. 2024 Sep 4:2024.09.04.24313051. doi: 10.1101/2024.09.04.24313051. medRxiv. 2024. PMID: 39281752 Free PMC article. Preprint.
Association of Gene Variant Type and Location with Breast Cancer Risk in the General Population.
Akamandisa MP, Boddicker NJ, Yadav S, Hu C, Hart SN, Ambrosone C, Anton-Culver H, Auer PL, Bodelon C, Burnside ES, Chen F, Eliassen HA, Goldgar DE, Haiman C, Hodge JM, Huang H, John EM, Karam R, Lacey JV, Lindstroem S, Martinez E, Na J, Neuhausen SL, O'Brien KM, Olson JE, Pal T, Palmer JR, Patel AV, Pesaran T, Polley EC, Richardson ME, Ruddy K, 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. Akamandisa MP, et al. Among authors: nathanson kl. medRxiv [Preprint]. 2024 Oct 12:2024.10.11.24315237. doi: 10.1101/2024.10.11.24315237. medRxiv. 2024. PMID: 39417132 Free PMC article. Preprint.
Tumor suppressor heterozygosity and homologous recombination deficiency mediate resistance to front-line therapy in breast cancer.
Safonov A, Marra A, Bandlamudi C, O'Leary B, Wubbenhorst B, Ferraro E, Moiso E, Lee M, An J, Donoghue MTA, Will M, Pareja F, Nizialek E, Lukashchuk N, Sofianopoulou E, Liu Y, Huang X, Ahmed M, Mehine MM, Ross D, Mandelker D, Ladanyi M, Schultz N, Berger MF, Scaltriti M, Reis-Filho JS, Li BT, Offit K, Norton L, Shen R, Shah S, Maxwell KN, Couch F, Domchek SM, Solit DB, Nathanson KL, Robson ME, Turner NC, Chandarlapaty S, Razavi P. Safonov A, et al. Among authors: nathanson kl. bioRxiv [Preprint]. 2024 Aug 26:2024.02.05.578934. doi: 10.1101/2024.02.05.578934. bioRxiv. 2024. PMID: 39253462 Free PMC article. Preprint.
A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations.
Safonov A, Nomakuchi TT, Chao E, Horton C, Dolinsky JS, Yussuf A, Richardson M, Speare V, Li S, Bogus ZC, Bonanni M, Raper A, Kallish S, Ritchie MD; Regeneron Genetics Center; Penn Medicine BioBank; Nathanson KL, Drivas TG. Safonov A, et al. Among authors: nathanson kl. medRxiv [Preprint]. 2023 Aug 10:2023.08.08.23293676. doi: 10.1101/2023.08.08.23293676. medRxiv. 2023. PMID: 37609227 Free PMC article. Preprint.
Using the Translational Science Benefits Model to assess the impact of the Penn Implementation Science Center in Cancer Control.
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. Schnoll R, et al. Among authors: nathanson kl. J Clin Transl Sci. 2024 Oct 16;8(1):e166. doi: 10.1017/cts.2024.554. eCollection 2024. J Clin Transl Sci. 2024. PMID: 39619072 Free PMC article.
Pathogenic variants in cancer susceptibility genes predispose to Ductal Carcinoma In situ of the breast.
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. Huang H, et al. Among authors: nathanson kl. Clin Cancer Res. 2024 Nov 8. doi: 10.1158/1078-0432.CCR-24-1884. Online ahead of print. Clin Cancer Res. 2024. PMID: 39513960
Hormonal Contraception and Breast Cancer Risk for Carriers of Germline Mutations in BRCA1 and BRCA2.
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. Phillips KA, et al. Among authors: nathanson kl. J Clin Oncol. 2024 Oct 2:JCO2400176. doi: 10.1200/JCO.24.00176. Online ahead of print. J Clin Oncol. 2024. PMID: 39356978
384 results