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Anticancer Res. 2016 Sep;36(9):4437-41.

Mismatch Repair Polymorphisms as Markers of Breast Cancer Prevalence in the Breast Cancer Family Registry.

Author information

1
Department of Environmental Health Sciences, Mailman School of Public Health, Columbia University, New York, NY, U.S.A. maya.kappil@mssm.edu.
2
Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, NY, U.S.A. Herbert Irving Comprehensive Cancer Center, Columbia University Medical Center, New York, NY, U.S.A.
3
Department of Environmental Health Sciences, Mailman School of Public Health, Columbia University, New York, NY, U.S.A.
4
Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, NY, U.S.A.
5
Department of Environmental Health Sciences, Mailman School of Public Health, Columbia University, New York, NY, U.S.A. Herbert Irving Comprehensive Cancer Center, Columbia University Medical Center, New York, NY, U.S.A.

Abstract

BACKGROUND:

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.

MATERIALS AND METHODS:

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.

RESULTS:

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).

CONCLUSION:

Deficiencies in DNA repair pathways, such as MMR, have implications for the onset of familial breast cancer.

KEYWORDS:

Breast cancer; family history; mismatch repair; single nucleotide polymorphisms

PMID:
27630279
PMCID:
PMC5278884
DOI:
10.21873/anticanres.10987
[Indexed for MEDLINE]
Free PMC Article

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