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ENIGMA--evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes.
Spurdle AB, Healey S, Devereau A, Hogervorst FB, Monteiro AN, Nathanson KL, Radice P, Stoppa-Lyonnet D, Tavtigian S, Wappenschmidt B, Couch FJ, Goldgar DE; ENIGMA. Spurdle AB, et al. Hum Mutat. 2012 Jan;33(1):2-7. doi: 10.1002/humu.21628. Epub 2011 Nov 3. Hum Mutat. 2012. PMID: 21990146 Free PMC article.
Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: results of an international study.
Neuhausen SL, Mazoyer S, Friedman L, Stratton M, Offit K, Caligo A, Tomlinson G, Cannon-Albright L, Bishop T, Kelsell D, Solomon E, Weber B, Couch F, Struewing J, Tonin P, Durocher F, Narod S, Skolnick MH, Lenoir G, Serova O, Ponder B, Stoppa-Lyonnet D, Easton D, King MC, Goldgar DE. Neuhausen SL, et al. Am J Hum Genet. 1996 Feb;58(2):271-80. Am J Hum Genet. 1996. PMID: 8571953 Free PMC article.
Haplotype and phenotype analysis of nine recurrent BRCA2 mutations in 111 families: results of an international study.
Neuhausen SL, Godwin AK, Gershoni-Baruch R, Schubert E, Garber J, Stoppa-Lyonnet D, Olah E, Csokay B, Serova O, Lalloo F, Osorio A, Stratton M, Offit K, Boyd J, Caligo MA, Scott RJ, Schofield A, Teugels E, Schwab M, Cannon-Albright L, Bishop T, Easton D, Benitez J, King MC, Ponder BA, Weber B, Devilee P, Borg A, Narod SA, Goldgar D. Neuhausen SL, et al. Am J Hum Genet. 1998 Jun;62(6):1381-8. doi: 10.1086/301885. Am J Hum Genet. 1998. PMID: 9585613 Free PMC article.
Germline brca2 sequence variants in patients with ocular melanoma.
Sinilnikova OM, Egan KM, Quinn JL, Boutrand L, Lenoir GM, Stoppa-Lyonnet D, Desjardins L, Levy C, Goldgar D, Gragoudas ES. Sinilnikova OM, et al. Int J Cancer. 1999 Jul 30;82(3):325-8. doi: 10.1002/(sici)1097-0215(19990730)82:3<325::aid-ijc3>3.0.co;2-g. Int J Cancer. 1999. PMID: 10399947 Free article. Clinical Trial.
Utilisation of prophylactic mastectomy in 10 European centres.
Evans DG, Anderson E, Lalloo F, Vasen H, Beckmann M, Eccles D, Hodgson S, Møller P, Chang-Claude J, Morrison P, Stoppa-Lyonnet D, Steel M, Haites N. Evans DG, et al. Dis Markers. 1999 Oct;15(1-3):148-51. doi: 10.1155/1999/605917. Dis Markers. 1999. PMID: 10595270 Free PMC article.
Tamoxifen and risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers: a case-control study. Hereditary Breast Cancer Clinical Study Group.
Narod SA, Brunet JS, Ghadirian P, Robson M, Heimdal K, Neuhausen SL, Stoppa-Lyonnet D, Lerman C, Pasini B, de los Rios P, Weber B, Lynch H; Hereditary Breast Cancer Clinical Study Group. Narod SA, et al. Lancet. 2000 Dec 2;356(9245):1876-81. doi: 10.1016/s0140-6736(00)03258-x. Lancet. 2000. PMID: 11130383
Evaluation of linkage of breast cancer to the putative BRCA3 locus on chromosome 13q21 in 128 multiple case families from the Breast Cancer Linkage Consortium.
Thompson D, Szabo CI, Mangion J, Oldenburg RA, Odefrey F, Seal S, Barfoot R, Kroeze-Jansema K, Teare D, Rahman N, Renard H, Mann G, Hopper JL, Buys SS, Andrulis IL, Senie R, Daly MB, West D, Ostrander EA, Offit K, Peretz T, Osorio A, Benitez J, Nathanson KL, Sinilnikova OM, Olàh E, Bignon YJ, Ruiz P, Badzioch MD, Vasen HF, Futreal AP, Phelan CM, Narod SA, Lynch HT, Ponder BA, Eeles RA, Meijers-Heijboer H, Stoppa-Lyonnet D, Couch FJ, Eccles DM, Evans DG, Chang-Claude J, Lenoir G, Weber BL, Devilee P, Easton DF, Goldgar DE, Stratton MR; KConFab Consortium. Thompson D, et al. Proc Natl Acad Sci U S A. 2002 Jan 22;99(2):827-31. doi: 10.1073/pnas.012584499. Epub 2002 Jan 15. Proc Natl Acad Sci U S A. 2002. PMID: 11792833 Free PMC article.
BRCA1 wild-type allele modifies risk of ovarian cancer in carriers of BRCA1 germ-line mutations.
Ginolhac SM, Gad S, Corbex M, Bressac-De-Paillerets B, Chompret A, Bignon YJ, Peyrat JP, Fournier J, Lasset C, Giraud S, Muller D, Fricker JP, Hardouin A, Berthet P, Maugard C, Nogues C, Lidereau R, Longy M, Olschwang S, Toulas C, Guimbaud R, Yannoukakos D, Szabo C, Durocher F, Moisan AM, Simard J, Mazoyer S, Lynch HT, Goldgar D, Stoppa-Lyonnet D, Lenoir GM, Sinilnikova OM. Ginolhac SM, et al. Cancer Epidemiol Biomarkers Prev. 2003 Feb;12(2):90-5. Cancer Epidemiol Biomarkers Prev. 2003. PMID: 12582017
488 results