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Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants.
Li H, Engel C, de la Hoya M, Peterlongo P, Yannoukakos D, Livraghi L, Radice P, Thomassen M, Hansen TVO, Gerdes AM, Nielsen HR, Caputo SM, Zambelli A, Borg A, Solano A, Thomas A, Parsons MT, Antoniou AC, Leslie G, Yang X, Chenevix-Trench G, Caldes T, Kwong A, Pedersen IS, Lautrup CK, John EM, Terry MB, Hopper JL, Southey MC, Andrulis IL, Tischkowitz M, Janavicius R, Boonen SE, Kroeldrup L, Varesco L, Hamann U, Vega A, Palmero EI, Garber J, Montagna M, Van Asperen CJ, Foretova L, Greene MH, Selkirk T, Moller P, Toland AE, Domchek SM, James PA, Thorne H, Eccles DM, Nielsen SM, Manoukian S, Pasini B, Caligo MA, Lazaro C, Kirk J, Wappenschmidt B, Spurdle AB, Couch FJ, Schmutzler R, Goldgar DE; ENIGMA Consortium; CIMBA Consortium. Li H, et al. Among authors: wappenschmidt b. Genet Med. 2022 Jan;24(1):119-129. doi: 10.1016/j.gim.2021.08.016. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906479 Free PMC article.
Limited relevance of the CHEK2 gene in hereditary breast cancer.
Dufault MR, Betz B, Wappenschmidt B, Hofmann W, Bandick K, Golla A, Pietschmann A, Nestle-Krämling C, Rhiem K, Hüttner C, von Lindern C, Dall P, Kiechle M, Untch M, Jonat W, Meindl A, Scherneck S, Niederacher D, Schmutzler RK, Arnold N. Dufault MR, et al. Among authors: wappenschmidt b. Int J Cancer. 2004 Jun 20;110(3):320-5. doi: 10.1002/ijc.20073. Int J Cancer. 2004. PMID: 15095295 Free article.
c-MYC Asn11Ser is associated with increased risk for familial breast cancer.
Wirtenberger M, Hemminki K, Försti A, Klaes R, Schmutzler RK, Grzybowska E, Bermejo JL, Wappenschmidt B, Bugert P, Butkiewicz D, Pamula J, Pekala W, Zientek H, Bartram CR, Burwinkel B. Wirtenberger M, et al. Among authors: wappenschmidt b. Int J Cancer. 2005 Nov 20;117(4):638-42. doi: 10.1002/ijc.21225. Int J Cancer. 2005. PMID: 15929079 Free article.
TP53-binding protein variants and breast cancer risk: a case-control study.
Frank B, Hemminki K, Bermejo JL, Klaes R, Bugert P, Wappenschmidt B, Schmutzler RK, Burwinkel B. Frank B, et al. Among authors: wappenschmidt b. Breast Cancer Res. 2005;7(4):R502-5. doi: 10.1186/bcr1038. Epub 2005 May 6. Breast Cancer Res. 2005. PMID: 15987456 Free PMC article.
161 results