Association Between BRCA1 P871L Polymorphism and Cancer Risk: Evidence from a Meta-analysis

Overview

Journal Oncotarget

Specialty Oncology

Date 2017 Apr 22

PMID 28427168

Citations 1

Authors

Limin Miao

Yang Yu

Yefeng Ji

Bo Zhang

Zhiyao Yuan

Yifei Du

Longbiao Zhu

Ruixia Wang

Ning Chen

Hua Yuan

Affiliations

Soon will be listed here.

Abstract

Breast cancer 1 (BRCA1) gene makes great contributions to the repair of DNA. The association between BRCA1 P871L polymorphism and cancer risk has been investigated in a growing number of studies, but the conclusions are not conclusive. To obtain a comprehensive conclusion, we performed a meta-analysis of 24 studies with 13762 cases and 22388 controls. The pooled results indicated that BRCA1 gene P871L variant decreased risk of overall cancer (homozygous model: odds ratio (OR) = 0.89, 95%confidence interval (CI) = 0.79-1.00; recessive model: OR = 0.89, 95% CI = 0.80-0.99). The stratified analysis observed decreased risk associated with BRCA1 P871L in subgroups among Asians and high score studies, but not Caucasians or low score studies. In conclusion, despite several limitations, this meta-analysis suggested that BRCA1 P871L genetic variation may be associated with decreased susceptibility to cancer.

Citing Articles

Screening of BRCA1 variants c.190T>C, 1307delT, g.5331G>A and c.2612C>T in breast cancer patients from North India.

Kour A, Sambyal V, Guleria K, Singh N, Uppal M, Manjari M Genet Mol Biol. 2020; 43(2):e20190014.

PMID: 32453341 PMC: 7250277. DOI: 10.1590/1678-4685-GMB-2019-0014.

References

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

Xu L, Doan P, Wei Q, Liu Y, Li G, Sturgis E . Association of BRCA1 functional single nucleotide polymorphisms with risk of differentiated thyroid carcinoma. Thyroid. 2011; 22(1):35-43. PMC: 3263304. DOI: 10.1089/thy.2011.0117. View

. Polymorphisms in the BRCA1 and ABCB1 genes modulate menopausal hormone therapy associated breast cancer risk in postmenopausal women. Breast Cancer Res Treat. 2009; 120(3):727-36. DOI: 10.1007/s10549-009-0489-8. View

Moynahan M, Cui T, Jasin M . Homology-directed dna repair, mitomycin-c resistance, and chromosome stability is restored with correction of a Brca1 mutation. Cancer Res. 2001; 61(12):4842-50. View

Auranen A, Song H, Waterfall C, Dicioccio R, Kuschel B, Kjaer S . Polymorphisms in DNA repair genes and epithelial ovarian cancer risk. Int J Cancer. 2005; 117(4):611-8. DOI: 10.1002/ijc.21047. View

Hasan T, Shafi G, Syed N, Alsaif M, Alsaif A, Alshatwi A . Lack of association of BRCA1 and BRCA2 variants with breast cancer in an ethnic population of Saudi Arabia, an emerging high-risk area. Asian Pac J Cancer Prev. 2013; 14(10):5671-4. DOI: 10.7314/apjcp.2013.14.10.5671. View

Torre L, Bray F, Siegel R, Ferlay J, Lortet-Tieulent J, Jemal A . Global cancer statistics, 2012. CA Cancer J Clin. 2015; 65(2):87-108. DOI: 10.3322/caac.21262. View

Hastak K, Alli E, Ford J . Synergistic chemosensitivity of triple-negative breast cancer cell lines to poly(ADP-Ribose) polymerase inhibition, gemcitabine, and cisplatin. Cancer Res. 2010; 70(20):7970-80. PMC: 2955854. DOI: 10.1158/0008-5472.CAN-09-4521. View

Xu L, Doan P, Wei Q, Li G, Sturgis E . Functional single-nucleotide polymorphisms in the BRCA1 gene and risk of salivary gland carcinoma. Oral Oncol. 2012; 48(9):842-7. PMC: 3408797. DOI: 10.1016/j.oraloncology.2012.03.012. View

10.

Whitehead A, Whitehead J . A general parametric approach to the meta-analysis of randomized clinical trials. Stat Med. 1991; 10(11):1665-77. DOI: 10.1002/sim.4780101105. View

11.

Chen Y, Zheng T, Lan Q, Kim C, Qin Q, Foss F . Polymorphisms in DNA repair pathway genes, body mass index, and risk of non-Hodgkin lymphoma. Am J Hematol. 2013; 88(7):606-11. PMC: 3902049. DOI: 10.1002/ajh.23463. View

12.

Alli E, Sharma V, Hartman A, Lin P, McPherson L, Ford J . Enhanced sensitivity to cisplatin and gemcitabine in Brca1-deficient murine mammary epithelial cells. BMC Pharmacol. 2011; 11:7. PMC: 3146825. DOI: 10.1186/1471-2210-11-7. View

13.

Dombernowsky S, Weischer M, Freiberg J, Bojesen S, Tybjaerg-Hansen A, Nordestgaard B . Missense polymorphisms in BRCA1 and BRCA2 and risk of breast and ovarian cancer. Cancer Epidemiol Biomarkers Prev. 2009; 18(8):2339-42. DOI: 10.1158/1055-9965.EPI-09-0447. View

14.

Mantel N, Haenszel W . Statistical aspects of the analysis of data from retrospective studies of disease. J Natl Cancer Inst. 1959; 22(4):719-48. View

15.

DerSimonian R, Laird N . Meta-analysis in clinical trials. Control Clin Trials. 1986; 7(3):177-88. DOI: 10.1016/0197-2456(86)90046-2. View

16.

Chang J, Yeh R, Wiencke J, Wiemels J, Smirnov I, Pico A . Pathway analysis of single-nucleotide polymorphisms potentially associated with glioblastoma multiforme susceptibility using random forests. Cancer Epidemiol Biomarkers Prev. 2008; 17(6):1368-73. PMC: 6986563. DOI: 10.1158/1055-9965.EPI-07-2830. View

17.

Kim H, Kim N, Yu L, Kim Y, Lee I, Yang D . Polymorphisms in DNA repair genes and MDR1 and the risk for non-Hodgkin lymphoma. Int J Mol Sci. 2014; 15(4):6703-16. PMC: 4013656. DOI: 10.3390/ijms15046703. View

18.

Zhang J, Powell S . The role of the BRCA1 tumor suppressor in DNA double-strand break repair. Mol Cancer Res. 2005; 3(10):531-9. DOI: 10.1158/1541-7786.MCR-05-0192. View

19.

Wu H, Delgado-Cruzata L, Machella N, Wang Q, Santella R, Terry M . 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). Cancer Causes Control. 2013; 24(12):2157-68. PMC: 3947831. DOI: 10.1007/s10552-013-0292-z. View

20.

Soucek P, Borovanova T, Pohlreich P, Kleibl Z, Novotny J . Role of single nucleotide polymorphisms and haplotypes in BRCA1 in breast cancer: Czech case-control study. Breast Cancer Res Treat. 2006; 103(2):219-24. DOI: 10.1007/s10549-006-9367-9. View