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A new alternative splice variant of BRCA1 containing an additional in-frame exon.
Fortin J, Moisan AM, Dumont M, Leblanc G, Labrie Y, Durocher F, Bessette P, Bridge P, Chiquette J, Laframboise R, Lépine J, Lespérance B, Pichette R, Plante M, Provencher L, Voyer P, Simard J. Fortin J, et al. Among authors: moisan am. Biochim Biophys Acta. 2005 Oct 15;1731(1):57-65. doi: 10.1016/j.bbaexp.2005.08.011. Epub 2005 Sep 13. Biochim Biophys Acta. 2005. PMID: 16185777
Evaluation of BRCA1 and BRCA2 mutation prevalence, risk prediction models and a multistep testing approach in French-Canadian families with high risk of breast and ovarian cancer.
Simard J, Dumont M, Moisan AM, Gaborieau V, Malouin H, Durocher F, Chiquette J, Plante M, Avard D, Bessette P, Brousseau C, Dorval M, Godard B, Houde L; INHERIT BRCAs; Joly Y, Lajoie MA, Leblanc G, Lépine J, Lespérance B, Vézina H, Parboosingh J, Pichette R, Provencher L, Rhéaume J, Sinnett D, Samson C, Simard JC, Tranchant M, Voyer P, Easton D, Tavtigian SV, Knoppers BM, Laframboise R, Bridge P, Goldgar D. Simard J, et al. Among authors: moisan am. J Med Genet. 2007 Feb;44(2):107-21. doi: 10.1136/jmg.2006.044388. Epub 2006 Aug 11. J Med Genet. 2007. PMID: 16905680 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. Among authors: moisan am. Cancer Epidemiol Biomarkers Prev. 2003 Feb;12(2):90-5. Cancer Epidemiol Biomarkers Prev. 2003. PMID: 12582017
Common BRCA2 variants and modification of breast and ovarian cancer risk in BRCA1 mutation carriers.
Hughes DJ, Ginolhac SM, Coupier I, Corbex M, Bressac-de-Paillerets B, Chompret A, Bignon YJ, Uhrhammer N, Lasset C, Giraud S, Hardouin A, Berthet P, Peyrat JP, Fournier J, Nogues C, Lidereau R, Muller D, Fricker JP, Longy M, Toulas C, Guimbaud R, Maugard C, Olschwang S, Yannoukakos D, Durocher F, Moisan AM, Simard J, Mazoyer S, Lynch HT, Szabo C, Lenoir GM, Goldgar DE, Stoppa-Lyonnet D, Sinilnikova OM. Hughes DJ, et al. Among authors: moisan am. Cancer Epidemiol Biomarkers Prev. 2005 Jan;14(1):265-7. Cancer Epidemiol Biomarkers Prev. 2005. PMID: 15668505
New insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency: identification of eight mutations in the HSD3B2 gene eleven patients from seven new families and comparison of the functional properties of twenty-five mutant enzymes.
Moisan AM, Ricketts ML, Tardy V, Desrochers M, Mébarki F, Chaussain JL, Cabrol S, Raux-Demay MC, Forest MG, Sippell WG, Peter M, Morel Y, Simard J. Moisan AM, et al. J Clin Endocrinol Metab. 1999 Dec;84(12):4410-25. doi: 10.1210/jcem.84.12.6288. J Clin Endocrinol Metab. 1999. PMID: 10599696
11 results