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Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer.
Blanco A, de la Hoya M, Balmaña J, Ramón y Cajal T, Teulé A, Miramar MD, Esteban E, Infante M, Benítez J, Torres A, Tejada MI, Brunet J, Graña B, Balbín M, Pérez-Segura P, Osorio A, Velasco EA, Chirivella I, Calvo MT, Feliubadaló L, Lasa A, Díez O, Carracedo A, Caldés T, Vega A. Blanco A, et al. Among authors: infante m. Breast Cancer Res Treat. 2012 Feb;132(1):307-15. doi: 10.1007/s10549-011-1842-2. Epub 2011 Nov 4. Breast Cancer Res Treat. 2012. PMID: 22052327 Free article.
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.
403 results