Variants in DNA double-strand break repair genes and risk of familial breast cancer in a South American population

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dc.contributor.authorJara, Lilian
dc.contributor.authorDubois, Karen
dc.contributor.authorGaete, Daniel
dc.contributor.authorde Mayo, Tomas
dc.contributor.authorRatkevicius, Nikalai
dc.contributor.authorBravo, Teresa
dc.contributor.authorMargarit, Sonia
dc.contributor.authorBlanco, Rafael
dc.contributor.authorGomez, Fernando
dc.contributor.authorWaugh, Enrique
dc.contributor.authorPeralta, Octavio
dc.contributor.authorReyes, Jose M.
dc.contributor.authorIbanez, Gladys
dc.contributor.authorGonzalez-Hormazabal, Patricio
dc.date.accessioned2021-10-26T12:44:19Z
dc.date.available2021-10-26T12:44:19Z
dc.date.issued2010
dc.description.abstractThe double-strand break (DSB) DNA repair pathway has been implicated in breast cancer (BC). RAD51 and its paralogs XRCC3 and RAD51D play an important role in the repair of DSB through homologous recombination (HR). Some polymorphisms including XRCC3-Thr241Met, RAD51-135G[C, and RAD51D-E233G have been found to confer increased BC susceptibility. In order to detect novel mutations that may contribute to BC susceptibility, 150 patients belonging to 150 Chilean BRCA1/2-negative families were screened for mutations in XRCC3. No mutations were detected in the XRCC3 gene. In addition, using a case–control design we studied the XRCC3-Thr241Met, and RAD51D-E233G polymorphisms in 267 BC cases and 500 controls to evaluate their possible association with BC susceptibility. The XRCC3 Met/Met genotype was associated with an increased BC risk (P = 0.003, OR = 2.44 [95%CI 1.34–4.43]). We did not find an association between E233G polymorphism and BC risk. We also analyzed the effect of combined genotypes among RAD51-135G[C, Thr241Met, and E233G polymorphisms on BC risk. No interaction was observed between Thr241Met and 135G[C. The combined genotype Thr/Met–E/G was associated with an increased BC risk among women who (a) have a family history of BC, (b) are BRCA1/2-negative, and (c) were \50 years at onset (n = 195) (P = 0.037, OR = 10.5 [95%CI 1.16–94.5]). Our results suggested that the variability of the DNA HR repair genes XRCC3 and RAD51D may play a role in BC risk, but this role may be underlined by a mutual interaction between these genes. These findings should be confirmed in other populations.es
dc.identifier.citationLa investigación del cáncer de mama y el tratamiento volumen 122 , paginas813–822 ( 2010es
dc.identifier.urihttp://hdl.handle.net/11447/4928
dc.language.isoen_USes
dc.subjectFamilial BCes
dc.subjectXRCC3-Thr241Metes
dc.subjectRAD51D-E233Ges
dc.subjectRAD51-135G[Ces
dc.subjectPolymorphismes
dc.titleVariants in DNA double-strand break repair genes and risk of familial breast cancer in a South American populationes
dc.typeArticlees

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