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544 results

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Page 1
APC germline pathogenic variants and epithelial ovarian cancer: causal or coincidental findings?
Vibert R, Le Gall J, Buecher B, Mouret-Fourme E, Bataillon G, Becette V, Trabelsi-Grati O, Moncoutier V, Dehainault C, Carriere J, Schwartz M, Suybeng V, Bieche I, Colas C, Vincent-Salomon A, Stoppa-Lyonnet D, Golmard L. Vibert R, et al. Among authors: bieche i. J Med Genet. 2023 May;60(5):460-463. doi: 10.1136/jmg-2022-108467. Epub 2022 Oct 21. J Med Genet. 2023. PMID: 36270768
A missense variant within BRCA1 exon 23 causing exon skipping.
Rouleau E, Lefol C, Moncoutier V, Castera L, Houdayer C, Caputo S, Bièche I, Buisson M, Mazoyer S, Stoppa-Lyonnet D, Noguès C, Lidereau R. Rouleau E, et al. Among authors: bieche i. Cancer Genet Cytogenet. 2010 Oct 15;202(2):144-6. doi: 10.1016/j.cancergencyto.2010.07.122. Cancer Genet Cytogenet. 2010. PMID: 20875879 No abstract available.
BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk.
Spurdle AB, Whiley PJ, Thompson B, Feng B, Healey S, Brown MA, Pettigrew C; kConFab; Van Asperen CJ, Ausems MG, Kattentidt-Mouravieva AA, van den Ouweland AM; Dutch Belgium UV Consortium; Lindblom A, Pigg MH, Schmutzler RK, Engel C, Meindl A; German Consortium of Hereditary Breast and Ovarian Cancer; Caputo S, Sinilnikova OM, Lidereau R; French COVAR group collaborators; Couch FJ, Guidugli L, Hansen Tv, Thomassen M, Eccles DM, Tucker K, Benitez J, Domchek SM, Toland AE, Van Rensburg EJ, Wappenschmidt B, Borg Å, Vreeswijk MP, Goldgar DE; ENIGMA Consortium. Spurdle AB, et al. J Med Genet. 2012 Aug;49(8):525-32. doi: 10.1136/jmedgenet-2012-101037. J Med Genet. 2012. PMID: 22889855 Free PMC article.
CAG repeat size in Huntingtin alleles is associated with cancer prognosis.
Thion MS, Tézenas du Montcel S, Golmard JL, Vacher S, Barjhoux L, Sornin V, Cazeneuve C, Bièche I, Sinilnikova O, Stoppa-Lyonnet D, Durr A, Humbert S. Thion MS, et al. Among authors: bieche i. Eur J Hum Genet. 2016 Aug;24(9):1310-5. doi: 10.1038/ejhg.2016.13. Epub 2016 Mar 16. Eur J Hum Genet. 2016. PMID: 26980106 Free PMC article.
544 results