ArticleCancer causes & control : CCC2013
DNA double-strand break repair genotype and phenotype and breast cancer risk within sisters from the New York site of the Breast Cancer Family Registry (BCFR).
Article in Cancer causes & control : CCC, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 2 of them syntheses that pooled it.
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Who cites it
13 citing papers in PubMed, 2 syntheses or guidelines pooled it, 16 citations in OpenAlex.
- Association between BRCA1 polymorphisms rs799917 and rs1799966 and breast cancer risk: a meta-analysis.The Journal of international medical research · 2019Pooled it
- Association between BRCA1 P871L polymorphism and cancer risk: evidence from a meta-analysis.Oncotarget · 2017Pooled it
- Investigating the association of NBN gene polymorphisms with multiple cancers through statistical meta-analysis and bioinformatics insights.Biology methods & protocols · 2026Review
- The selenium paradox friend or foe in breast cancer?Annals of medicine and surgery (2012) · 2025Review
- Article
- Single nucleotide polymorphisms in breast cancer susceptibility gene 1 are associated with susceptibility to lung cancer.Oncology letters · 2021Article
- Identification and analysis of RNA structural disruptions induced by single nucleotide variants using Riprap and RiboSNitchDB.NAR genomics and bioinformatics · 2020Article
- Novel Associations between BRCA1 Variants C.181 T>G (Rs28897672) and Ovarian Crisk in Saudi Females.Journal of medical biochemistry · 2019Article
- Article
- Pubertal development in girls by breast cancer family history: the LEGACY girls cohort.Breast cancer research : BCR · 2017Article
- DNA Methylation in Breast Tumor from High-risk Women in the Breast Cancer Family Registry.Anticancer research · 2017Article
- Mismatch Repair Polymorphisms as Markers of Breast Cancer Prevalence in the Breast Cancer Family Registry.Anticancer research · 2016Article
- Mutation screening of PALB2 in clinically ascertained families from the Breast Cancer Family Registry.Breast cancer research and treatment · 2015Article
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
Abstract
purposeWe previously observed that poor DNA repair phenotype is associated with increased breast cancer (BC) risk within families. Here, we examined whether genetic variation in double-strand break repair (DSBR) genes is associated with BC risk and if genotypes are related to phenotype in unaffected women.
methodsUsing data from the New York site of the Breast Cancer Family Registry, we investigated 25 single-nucleotide polymorphism (SNPs) involved in DSBR using biospecimens from 337 BC cases and 410 unaffected sister controls.
resultsGenotypes in XRCC4 were associated with BC risk, with ORs of 1.67 (95 % CI 1.01-2.76) for the combined GA/AA of rs1805377 and 1.69 (95 % CI 1.03-2.77) for rs1056503 TG/GG; these associations were no longer statistically significant in multivariable conditional logistic regression models. When examining the association of SNPs with phenotype, we found that genotypes of XRCC5 rs3834 and rs1051685, which were highly correlated with each other, were associated with end-joining (EJ) capacity; women with the XRCC5 rs3834 GA genotype had better DNA repair as measured by higher levels of EJ capacity (37.8 ± 14.1 % for GA vs. 27.9 ± 11.8 % for GG carriers p = 0.0006). Women with the AA genotype of BRCA1 rs799917 also had higher EJ capacity (35.1 ± 9.2 %) than those with GG (26.4 ± 10.1 %, p = 0.02).
conclusionsOverall, we found that selected DSBR genotypes were associated with phenotype, although they were not associated with BC risk itself, suggesting that phenotypic measures are influenced by endogenous and exogenous factors across the life course and may be better markers than genotypic measures for ascertaining BC risk.
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