Mismatch Repair Polymorphisms as Markers of Breast Cancer Prevalence in the Breast Cancer Family Registry.
Mismatch Repair Polymorphisms as Markers of Breast Cancer Prevalence in the Breast Cancer Family Registry.
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不匹配修复多态性是乳腺癌家族注册表中乳腺癌患病率的标志。
DOI：
10.21873/anticanres.10987
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发表时间：
2016-09
影响因子：
2
通讯作者：
Santella RM
中科院分区：
文献类型：
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作者：
Kappil M;Terry MB;Delgado-Cruzata L;Liao Y;Santella RM
参与DNA修复的主要乳腺癌易感基因，包括BRCA 1和BRCA 2，已经被确定。然而，这些基因的突变仅占已确定的乳腺癌病例的5-10%。其他DNA修复途径基因也可能导致易感性。我们采用条件Logistic回归分析研究了在乳腺癌家族登记（BCFR）纽约站点登记的313名姐妹（n=744）中错配修复（MMR）基因的12个单核苷酸多态性（SNP）与乳腺癌风险之间的关联。观察到携带MUTYH_rs3219489变异等位基因的女性（比值比（OR）=2.23，95%置信区间（CI）=1.10-4.52）和携带MSH2_rs2303428变异等位基因的女性（OR=1.73，95% CI=1.00-2.99）乳腺癌风险增加。DNA修复途径的缺陷，如MMR，与家族性乳腺癌的发病有关。
Major breast cancer susceptibility genes involved in DNA repair, including BRCA1 and BRCA2, have been identified. However, mutations in these genes account for only 5–10% of identified breast cancer cases. Additional DNA repair pathway genes may also contribute to susceptibility. We investigated the association between 12 single nucleotide polymorphisms (SNPs) in mismatch repair (MMR) genes and breast cancer risk among 313 sister-sets enrolled in the New York site of the Breast Cancer Family Registry (BCFR) (n=744) using conditional logistic regression analysis. An increase in breast cancer risk was observed for women with the MUTYH_rs3219489 variant allele (odds ratio (OR)=2.23, 95% confidence interval (CI)=1.10–4.52) and for women with the MSH2_rs2303428 variant allele (OR=1.73, 95% CI=1.00–2.99). Deficiencies in DNA repair pathways, such as MMR, have implications for the onset of familial breast cancer.