Association between <i>BRCA1</i> P871L polymorphism and cancer risk: evidence from a meta-analysis

Miao, Limin; Ye, Yu; Ji, Yefeng; Zhang, Bo; Yuan, Zhiyao; Du, Yifei; Zhu, Lucheng; Wang, Ruixia; Chen, Ning; Yuan, Hua

doi:10.18632/oncotarget.15739

Cited by 4 publications

(5 citation statements)

References 33 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…A meta-analysis of 24 studies consisting of 13762 cases and 22388 controls has found no association between BRCA1 p.P871L and risk of breast cancer. Despite the fact that this polymorphism leads to substitution of amino acid proline to leucine at position 871, which is part of interaction region for another critical homologous recombination protein called RAD51 and has been considered to confer cancer susceptibility, they observed a significant association with decreased risk of overall cancer in either homozygous or heterozygous condition [27]. There were no polymorphisms observed in TP53, PTEN, CDH1, CHEK2 and XRCC2.…”

Section: Discussionmentioning

confidence: 93%

“…The possible hypothesis behind cancer occurrence despite the presence of p.K1183R polymorphism in our studied cases could be the balance between DNA damage and repair that determines the individual susceptibility to breast cancer. DNA damages caused by certain environmental factors such as those of chemicals and radiations that are not repaired fully could wake the genomes stability leading to carcinogenesis [27].…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Absence of High Penetrance Genes Mutations in Familial Breast Cancer in Mizo-Mongloid Population, Northeast India

Zodinpuii¹,

Zothankima²,

Pautu³

et al. 2020

Preprint

View full text Add to dashboard Cite

Background: Breast cancer is the most prevalent cancer and leading cause of death among women globally. The present study focuses on screening germline mutations of breast cancer susceptibility genes among the unexplored Mizo breast cancers of culturally and historically homogenous population, living a unique life style habits in terms of diet and tobacco usage. Methods Mutation screening was performed using Sanger sequencing in complete coding region of BRCA1 and frequently mutated exons of TP53, PTEN, CDH1, CHEK2 and XRCC2. Several online mutation prediction tools and databases were used to check the pathogenicity of the polymorphisms observed. Results: We observed eight polymorphisms in total, in which, one variants p.P1544P in BRCA1 gene was found to be novel. No variants were found to have a potential impact on protein since all the polymorphisms are of silent substitutions. No genetic alteration was observed in the studied exons of each of TP53, PTEN, CDH1, CHEK2 and XRCC2. Conclusion: To our knowledge, the present study focusing on familial breast cancer is the first time to analyzed the prevalence of breast cancer susceptibility gene mutations using direct sequencing in Mizo population. Even though, we do not find significant amino acid change, our results suggest the need for further evaluation of broader panel genes and a challenge to screen larger sample size to establish the contribution of these gene mutations in this population.

show abstract

Section: Discussionmentioning

confidence: 93%

Section: Discussionmentioning

confidence: 99%

Absence of High Penetrance Genes Mutations in Familial Breast Cancer in Mizo-Mongloid Population, Northeast India

Zodinpuii¹,

Zothankima²,

Pautu³

et al. 2020

Preprint

View full text Add to dashboard Cite

show abstract

“…Similar findings have been reported in a Czech population (Soucek et al, 2007), where no association was reported. Meta-analyses carried out in 2014 (Qin et al, 2014) and 2017 (Miao et al, 2017) reported no association of the p.Pro871Leu polymorphism and breast cancer risk. Contradictory results have also been reported for the BRCA1 871L allele, as significantly associated with increased risk of breast cancer in a Polish population (Smolarz et al, 2017).…”

Section: Discussionmentioning

confidence: 95%

“…The four variants of BRCA1 [c.190T>C (p.Cys64Arg), 1307delT, g.5331G>A (p.G1738R) and c.2612C>T (p.Pro871Leu)] were investigated in the current study. The variant c.2612C>T (p.Pro871Leu) is a nonsynonymous polymorphism of BRCA1 that leads to the substitution of proline by leucine at position 871, a region where recombinase RAD51 interacts with BRCA1 to aid homologous recombination (Miao et al, 2017). The T allele has been reported to show an association with breast cancer risk in Chinese populations (Xu et al, 2018) though some studies have reported no significant association between the p.Pro871Leu variant of BRCA1 and breast cancer risk.…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2020

View full text Add to dashboard Cite

The polymorphic variants of BRCA1, which lead to amino acid substitutions, have a known pathogenic role in breast cancer. The present study investigated in North Indian breast cancer patients the association of risk with four reported pathogenic variants of BRCA1: c.190T>C (p.Cys64Arg), 1307delT, g.5331G>A (p.G1738R) and c.2612C>T (p.Pro871Leu). Genotyping was done by PCR-RFLP method in 255 clinically confirmed breast cancer patients and 255 age and gender matched healthy individuals. For c.190T>C, 1307delT and g.5331G>A, all the patients and controls had the wild-type genotype indicating no association with breast cancer risk. For c.2612C>T polymorphism, the frequency of the CC, CT, and TT genotypes was 14.5 vs 15.7%, 59.6 vs 53.7% and 25.9 vs 30.6% in breast cancer patients and controls respectively. The frequency of heterozygotes (CT genotype) was higher in cases than controls but the difference was not statistically significant. Genetic model analysis showed no association of the four analyzed BRCA1 variants with breast cancer risk with any model. The studied variants were not associated with the risk of breast cancer in Punjab, North west India, suggesting a need for further screening of other BRCA1 variants. It is the first reported study on these 4 variants from India.

show abstract

“…So, any deficiencies in BRCA1 may lead to genetic instability and tumor genesis. 18,30,31 BRCA1 gene is located on chromosome at 17q21 covering more than 80kb distributed in 22 exons and encoded for a protein of 1,863 amino acids that was mapped and cloned in 1994. 14,31 Among the Asian countries, Pakistan has the highest rate of breast cancer as well as ovarian cancer.…”

Section: Introduction Introductionmentioning

confidence: 99%

Association Between Brca1 Polymorphisms and Breast Cancer in Saarc Countries

Abid

Aziz

2021

Gomal J Med Sci

View full text Add to dashboard Cite

BRCA1 gene is highly contributed gene developing the breast cancer especially in female. Breast cancer is most prevalent cancer in South Asian Association for Regional Cooperation (SAARC) countries and risk of developing the breast cancer is now increasing rapidly. It was observed that in these countries breast cancer often develops at younger age of 30-45 years. The prevalence and the contribution of BRCA1 variations are totally different among these countries and studies. Due to the difference in genetics and epidemiology, risk factors result from ethnic differences in breast cancer. Variations of BRCA1 gene account for small study samples but the higher contributor variation of BRCA1 gene accounts with strong family history. Three BRCA1 variations (185delAG, 4184del4 and 3889delAG) are well considered in Pakistan and India. The objective of present study was to reveal the contribution of BRCA1 gene among breast cancer patients in SAARC countries. In this review, the data was collected from 8 participating SAARC countries (Pakistan, India, Sri Lanka, Bangladesh, Nepal, Maldives, Bhutan and Afghanistan). Totally 25 articles were selected from these countries. Additionally review articles were also studied for better assessment. The study presents the review on different studies of BRCA1 gene association with breast cancer.

show abstract

Association between BRCA1 P871L polymorphism and cancer risk: evidence from a meta-analysis

Cited by 4 publications

References 33 publications

Absence of High Penetrance Genes Mutations in Familial Breast Cancer in Mizo-Mongloid Population, Northeast India

Absence of High Penetrance Genes Mutations in Familial Breast Cancer in Mizo-Mongloid Population, Northeast India

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

Association Between Brca1 Polymorphisms and Breast Cancer in Saarc Countries

Contact Info

Product

Resources

About