An evaluation of the genes involved in the Base Excision Repair (BER) pathway as potential phenotypic modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers.
Tereza Vaclova, Roger L Milne, Laura P Saucedo-Cuevas, Paolo Radice, Ignacio Blanco, Miguel de la Hoya, Mercedes Duran, Orland Diez, Teresa Ramon y Cajal, Cristina Martinez-Bouzas, Florentia Fostira, Javier Godino, Javier Benitez, Ana Osoriol
CANCER RESEARCH | AMER ASSOC CANCER RESEARCH | Published : 2012
Abstract Germ-line mutations in the BRCA1 and BRCA2 genes confer a high lifetime risk of developing breast and other cancers. However, remarkable differences exist regarding disease manifestation in mutation carriers, suggesting the existence of other genetic modifier factors. Given that both BRCA1 and BRCA2 are involved in the repair of double-strand breaks (DSBs) mainly by Homologous Recombination, SNPs in genes involved in DNA repair are good candidates to be tested as phenotypic modifiers. The Base Excision Repair (BER) pathway could be particularly interesting given the relation of synthetic lethality that exists between one of the components of this pathway, PARP1, and b..View full abstract