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Hereditary cancer predispositions: Comparison of multigene panel sequencing on fresh-frozen breast/ovarian tumor versus blood.
Schwartz M, Moncoutier V, Peytral A, Le Gall J, Suybeng V, Pagès M, Masliah-Planchon J, Trabelsi-Grati O, Melaabi S, Callens C, Bièche I, Delhomelle H, De Pauw A, Saule C, Mouret-Fourme E, Gauthier-Villars M, Buecher B, Colas C, Stoppa-Lyonnet D, Golmard L. Schwartz M, et al. Clin Genet. 2023 Jul;104(1):107-113. doi: 10.1111/cge.14327. Epub 2023 Mar 27. Clin Genet. 2023. PMID: 36974006
Genetic testing for breast cancer predisposition.
Gauthier-Villars M, Gad S, Caux V, Pagès S, Blandy C, Stoppa-Lyonnet D. Gauthier-Villars M, et al. Surg Clin North Am. 1999 Oct;79(5):1171-87, xxi. doi: 10.1016/s0039-6109(05)70067-0. Surg Clin North Am. 1999. PMID: 10572557 Review.
Familial invasive breast cancers: worse outcome related to BRCA1 mutations.
Stoppa-Lyonnet D, Ansquer Y, Dreyfus H, Gautier C, Gauthier-Villars M, Bourstyn E, Clough KB, Magdelénat H, Pouillart P, Vincent-Salomon A, Fourquet A, Asselain B. Stoppa-Lyonnet D, et al. J Clin Oncol. 2000 Dec 15;18(24):4053-9. doi: 10.1200/JCO.2000.18.24.4053. J Clin Oncol. 2000. PMID: 11118466
[Genetic predisposition and ovarian cancer].
Coupier I, Gauthier-Villars M, This P, Stoppa-Lyonnet D. Coupier I, et al. Rev Prat. 2004 Oct 31;54(16):1757-62. Rev Prat. 2004. PMID: 15630879 Review. French.
A deep intronic mutation in the RB1 gene leads to intronic sequence exonisation.
Dehainault C, Michaux D, Pagès-Berhouet S, Caux-Moncoutier V, Doz F, Desjardins L, Couturier J, Parent P, Stoppa-Lyonnet D, Gauthier-Villars M, Houdayer C. Dehainault C, et al. Eur J Hum Genet. 2007 Apr;15(4):473-7. doi: 10.1038/sj.ejhg.5201787. Epub 2007 Feb 14. Eur J Hum Genet. 2007. PMID: 17299438
488 results