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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 DE See abstract for full author list ➔ Zanti M, et al. Among authors: goldgar de. medRxiv [Preprint]. 2024 Sep 4:2024.09.04.24313051. doi: 10.1101/2024.09.04.24313051. medRxiv. 2024. PMID: 39281752 Free PMC article. Preprint.
Assessment of functional effects of unclassified genetic variants.
Couch FJ, Rasmussen LJ, Hofstra R, Monteiro AN, Greenblatt MS, de Wind N; IARC Unclassified Genetic Variants Working Group. Couch FJ, et al. Hum Mutat. 2008 Nov;29(11):1314-26. doi: 10.1002/humu.20899. Hum Mutat. 2008. PMID: 18951449 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: goldgar de. Clin Cancer Res. 2024 Nov 8. doi: 10.1158/1078-0432.CCR-24-1884. Online ahead of print. Clin Cancer Res. 2024. PMID: 39513960
271 results