Dataset Information

Correlation of the BACH1 Pro919Ser polymorphism with breast cancer risk: A literature-based meta-analysis and meta-regression analysis.

ABSTRACT: Recent investigations have suggested that common genetic polymorphisms in BRCA1-associated C-terminal helicase 1 (BACH1) are important in the development of breast cancer. However, individually published studies and previous meta-analyses have demonstrated inconclusive results. The aim of this meta-analysis was to derive a more precise estimation of the correlation between a common polymorphism [proline (Pro) 919 serine (Ser); rs4986764 C>T] in the BACH1 gene and susceptibility to breast cancer. A literature search of PubMed, Embase, Web of Science and Chinese BioMedicine (CBM) databases was conducted on articles published prior to March 1, 2013. Crude odds ratios (ORs) with 95% confidence intervals (CIs) were calculated. Eleven case-control studies were included with a total of 6,903 breast cancer cases and 8,154 healthy controls. The meta-analysis results revealed that the BACH1 919Ser polymorphism may be correlated with a decreased risk of breast cancer among Caucasian populations (Ser allele versus Pro allele: OR=0.90, 95% CI=0.86-0.95; Pro/Ser + Ser/Ser versus Pro/Pro: OR=0.90, 95% CI=0.84-0.98; Ser/Ser versus Pro/Pro + Pro/Ser: OR=0.84, 95% CI=0.76-0.92; Ser/Ser versus Pro/Pro: OR=0.81, 95% CI=0.73-0.91; Ser/Ser versus Pro/Ser: OR=0.86, 95% CI=0.78-0.95), although not among Asian populations. Further subgroup analyses indicated that there were significant correlations between the BACH1 919Ser polymorphism and a decreased risk of breast cancer in postmenopausal females, females with a family history of breast cancer and females without BRCA1/2 mutations. Univariate and multivariate meta-regression analyses revealed that none of the factors explained the heterogeneity (all P>0.05). The present meta-analysis suggested that the BACH1 919Ser polymorphism may decrease the risk of breast cancer among Caucasian populations, particularly in postmenopausal females with a family history of breast cancer and without BRCA1/2 mutations.

SUBMITTER: Shi J

PROVIDER: S-EPMC3786943 | biostudies-literature | 2013 Aug

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Correlation of the BACH1 Pro919Ser polymorphism with breast cancer risk: A literature-based meta-analysis and meta-regression analysis.

Shi Jing J Tong Jianhua J Cai Shuang S Qu Xiujuan X Liu Yunpeng Y

Experimental and therapeutic medicine 20130607 2

Recent investigations have suggested that common genetic polymorphisms in BRCA1-associated C-terminal helicase 1 (BACH1) are important in the development of breast cancer. However, individually published studies and previous meta-analyses have demonstrated inconclusive results. The aim of this meta-analysis was to derive a more precise estimation of the correlation between a common polymorphism [proline (Pro) 919 serine (Ser); rs4986764 C>T] in the BACH1 gene and susceptibility to breast cancer. ...[more]

PMID: 24137204

Similar Datasets

Project description:BackgroundBACH1 (BRCA1-associated C-terminal helicase 1; also known as BRCA1-interacting protein 1, BRIP1) is a helicase protein that interacts in vivo with BRCA1, the protein product of one of the major genes for hereditary predisposition to breast cancer. Previously, two BACH1 germ line missense mutations have been identified in early-onset breast cancer patients with and without family history of breast and ovarian cancer. In this study, we aimed to evaluate whether there are BACH1 genetic variants that contribute to breast cancer risk in Finland.MethodsThe BACH1 gene was screened for germ line alterations among probands from 43 Finnish BRCA1/2 negative breast cancer families. Recently, one of the observed common variants, Ser-allele of the Ser919Pro polymorphism, was suggested to associate with an increased breast cancer risk, and was here evaluated in an independent, large series of 888 unselected breast cancer patients and in 736 healthy controls.ResultsSix BACH1 germ line alterations were observed in the mutation analysis, but none of these were found to associate with the cancer phenotype. The Val193Ile variant that was seen in only one family was further screened in an independent series of 346 familial breast cancer cases and 183 healthy controls, but no additional carriers were observed. Individuals with the BACH1 Ser919-allele were not found to have an increased breast cancer risk when the Pro/Ser heterozygotes (OR 0.90; 95% CI 0.70-1.16; p = 0.427) or Ser/Ser homozygotes (OR 1.02; 95% CI 0.76-1.35; p = 0.91) were compared to Pro/Pro homozygotes, and there was no association of the variant with any breast tumor characteristics, age at cancer diagnosis, family history of cancer, or survival.ConclusionOur results suggest that the BACH1 Ser919 is not a breast cancer predisposition allele in the Finnish study population. Together with previous studies, our results also indicate that although some rare germ line variants in BACH1 may contribute to breast cancer development, the contribution of BACH1 germline alterations to familial breast cancer seems marginal.

Dataset Information

Correlation of the BACH1 Pro919Ser polymorphism with breast cancer risk: A literature-based meta-analysis and meta-regression analysis.

Publications

Correlation of the BACH1 Pro919Ser polymorphism with breast cancer risk: A literature-based meta-analysis and meta-regression analysis.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets