» Articles » PMID: 29492227

The Association Between BRCA1 Gene Polymorphism and Cancer Risk: a Meta-analysis

Overview
Journal Oncotarget
Specialty Oncology
Date 2018 Mar 2
PMID 29492227
Citations 17
Authors
Affiliations
Soon will be listed here.
Abstract

Many studies have reported that BRCA1 polymorphisms are associated with cancer risk, but the results remain controversial. The purpose of this meta-analysis is to evaluate the relationship between BRCA1 polymorphisms (rs799917, rs1799950, rs1799966, or rs16941) and cancer risk. Relevant studies were identified via a systematic search of the PubMed, Embase, and Web of Science databases up to July 31, 2017. Odds ratios (ORs) with 95% confidence intervals (CIs) were calculated to examine the strength of the associations. Thirty-five studies published in 19 publications involving 28,094 cases and 50,657 controls were included in this meta-analysis. There was no obvious association between rs799917, rs1799966, or rs16941 polymorphisms and overall cancer risk in any genetic models. However, subgroup analyses revealed that the rs799917 polymorphism could decrease the risk of cervical cancer, esophageal squamous cell carcinoma (ESCC), gastric cancer, and non-Hodgkin lymphoma (NHL) among Asian populations in one or more genetic models and that rs16941 could increase overall cancer risk among Caucasian populations in the homozygote and recessive models. Our meta-analysis also indicated that rs1799950 could decrease the breast cancer (BC) risk among Caucasian populations in the homozygote and recessive models. In summary, our results suggest that BRCA1 polymorphisms may play an important role in the etiology of cancer. However, due to the limited number of studies, these findings should be confirmed by new studies with larger sample sizes that address various types of cancer.

Citing Articles

Regional Hereditary Cancer Program in Chile: A scalable model of genetic counseling and molecular diagnosis to improve clinical outcomes for patients with hereditary cancer across Latin America.

Landeros N, Vargas-Roig L, Denita S, Mampel A, Hasbun R, Araya H Biol Res. 2024; 57(1):99.

PMID: 39710803 PMC: 11664851. DOI: 10.1186/s40659-024-00579-x.


Comprehensive breast cancer risk analysis with whole exome sequencing and the prevalence of and mutations and oncogenic HPV.

Bumrungthai S, Duangjit S, Passorn S, Pongpakdeesakul S, Butsri S, Janyakhantikul S Biomed Rep. 2024; 21(4):144.

PMID: 39170756 PMC: 11337157. DOI: 10.3892/br.2024.1832.


Frequencies of Diagnostically Significant Polymorphisms of Hereditary Breast Cancer Forms in BRCA1 and BRCA2 Genes in the Kazakh Population.

Svyatova G, Berezina G, Urazbayeva G, Murtazaliyeva A Asian Pac J Cancer Prev. 2023; 24(11):3899-3907.

PMID: 38019249 PMC: 10772761. DOI: 10.31557/APJCP.2023.24.11.3899.


Significant association of BRCA1 (rs1799950), BRCA2 (rs144848) and TP53 (rs1042522) polymorphism with breast cancer risk in Pashtun population of Khyber Pakhtunkhwa, Pakistan.

Khan Y, Khan N, Ali I, Khan S, Khan A, Iqbal A Mol Biol Rep. 2023; 50(7):6087-6096.

PMID: 37300745 DOI: 10.1007/s11033-023-08463-9.


VUS: A functional analysis to differentiate pathogenic from benign variants identified in clinical diagnostic panels for breast cancer.

Lourenco R, Lanca M, Gil O, Cardoso J, Lourenco T, Pereira-Leal J Mol Med Rep. 2023; 28(1).

PMID: 37232349 PMC: 10280555. DOI: 10.3892/mmr.2023.13023.


References
1.
Thompson D, Easton D . Cancer Incidence in BRCA1 mutation carriers. J Natl Cancer Inst. 2002; 94(18):1358-65. DOI: 10.1093/jnci/94.18.1358. View

2.
Huo X, Lu C, Huang X, Hu Z, Jin G, Ma H . Polymorphisms in BRCA1, BRCA1-interacting genes and susceptibility of breast cancer in Chinese women. J Cancer Res Clin Oncol. 2009; 135(11):1569-75. DOI: 10.1007/s00432-009-0604-6. View

3.
Maia A, Spiteri I, Lee A, OReilly M, Jones L, Caldas C . Extent of differential allelic expression of candidate breast cancer genes is similar in blood and breast. Breast Cancer Res. 2009; 11(6):R88. PMC: 2815552. DOI: 10.1186/bcr2458. View

4.
Higgins J, Thompson S . Quantifying heterogeneity in a meta-analysis. Stat Med. 2002; 21(11):1539-58. DOI: 10.1002/sim.1186. View

5.
Venkitaraman A . Cancer susceptibility and the functions of BRCA1 and BRCA2. Cell. 2002; 108(2):171-82. DOI: 10.1016/s0092-8674(02)00615-3. View