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BRCA1 5272-1G>A and BRCA2 5374delTATG are founder mutations of high relevance for genetic counselling in breast/ovarian cancer families of Spanish origin.
Infante M, Durán M, Acedo A, Pérez-Cabornero L, Sanz DJ, García-González M, Beristain E, Esteban-Cardeñosa E, de la Hoya M, Teulé A, Vega A, Tejada MI, Lastra E, Miner C, Velasco EA. Infante M, et al. Clin Genet. 2010 Jan;77(1):60-9. doi: 10.1111/j.1399-0004.2009.01272.x. Epub 2009 Nov 2. Clin Genet. 2010. PMID: 19912264 Free article.
Two founder BRCA2 mutations predispose to breast cancer in young women.
Infante M, Durán M, Lasa A, Acedo A, de la Hoya M, Esteban-Cardeñosa E, Sanz DJ, Pérez-Cabornero L, Lastra E, Miner C, Velasco EA. Infante M, et al. Breast Cancer Res Treat. 2010 Jul;122(2):567-71. doi: 10.1007/s10549-009-0661-1. Epub 2009 Dec 1. Breast Cancer Res Treat. 2010. PMID: 19949853 Free article.
Lynch syndrome diagnostics: decision-making process for germ-line testing.
Lastra E, García-González M, Llorente B, Bernuy C, Barrio MJ, Pérez-Cabornero L, Durán M, García-Girón C. Lastra E, et al. Among authors: perez cabornero l. Clin Transl Oncol. 2012 Apr;14(4):254-62. doi: 10.1007/s12094-012-0793-3. Clin Transl Oncol. 2012. PMID: 22484632 Review.
15 results