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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. Among authors: velasco ea. 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.
Genetic dissection of the BRCA2 promoter and transcriptional impact of DNA variants.
Fraile-Bethencourt E, Valenzuela-Palomo A, Díez-Gómez B, Infante M, Durán M, Marcos G, Lastra E, Gómez-Barrero S, Velasco EA. Fraile-Bethencourt E, et al. Among authors: velasco ea. Breast Cancer Res Treat. 2018 Aug;171(1):53-63. doi: 10.1007/s10549-018-4826-7. Epub 2018 May 15. Breast Cancer Res Treat. 2018. PMID: 29766361
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. Among authors: velasco ea. 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.
Parity and the risk of breast and ovarian cancer in BRCA1 and BRCA2 mutation carriers.
Milne RL, Osorio A, Ramón y Cajal T, Baiget M, Lasa A, Diaz-Rubio E, de la Hoya M, Caldés T, Teulé A, Lázaro C, Blanco I, Balmaña J, Sánchez-Ollé G, Vega A, Blanco A, Chirivella I, Esteban Cardeñosa E, Durán M, Velasco E, Martínez de Dueñas E, Tejada MI, Miramar MD, Calvo MT, Guillén-Ponce C, Salazar R, San Román C, Urioste M, Benítez J. Milne RL, et al. Breast Cancer Res Treat. 2010 Jan;119(1):221-32. doi: 10.1007/s10549-009-0394-1. Epub 2009 Apr 16. Breast Cancer Res Treat. 2010. PMID: 19370414 Free article.
59 results