Article
The variant E233G of the RAD51D gene could be a low-penetrance allele in high-risk breast cancer families without BRCA1/2 mutations.
International journal of cancer - 20 Jul 2004
Rodríguez-López Raquel, Osorio Ana, Ribas Gloria, Pollán Marina, Sánchez-Pulido Luis, de la Hoya Miguel, Ruibal Alvaro, Zamora Pilar, Arias Jose Ignacio, Salazar Raquel, Vega Ana, Martínez Jose Ignacio, Esteban-Cardeñosa Eva, Alonso Carmen, Letón Rocío, Urioste Azcorra Miguel, Miner Cristina, Armengod M Eugenia, Carracedo Angel, González-Sarmiento Rogelio, Caldés Trinidad, Díez Orland, Benítez Javier
Abstract excerpt
Six SNPs have been detected in the DNA repair genes RAD51C and RAD51D, not previously characterized. The novel variant E233G in RAD51D is more highly represented in high-risk, site-specific, familial breast cancer cases that are not associated with the BRCA1/2 genes, with a frequency of 5.74% (n = 174) compared to a control population (n = 567) and another subset of breast cancer patients (n = 765) with a...
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