Single nucleotide polymorphisms in breast cancer susceptibility gene 1 are associated with susceptibility to lung cancer

Abstract

BRCA1 is a tumor suppressor that has been found to be involved DNA synthesis during cell replication. In a recent study, the single nucleotide polymorphism (SNP), rs799917, in BRCA1 was found to be associated with the development and progression of various types of tumor. In the present study, the association between rs799917 and susceptibility to lung cancer was evaluated in a Han Chinese population in the Liaoning Province of China. The BRCA1 rs799917 genotypes (C/C, C/T and T/T) were analyzed using TaqMan quantitative PCR in 682 patients with lung cancer and 694 healthy controls, and the results were analyzed using a Student's t-test, a χ 2 test and logistic regression analysis. Individuals carrying the C/T or T/T genotype had a lower risk of lung cancer compared with those carrying the C/C genotype [odds ratio (OR), 0.741; P=0.021; and OR, 0.610; P=0.011, respectively). The C/T + T/T genotype group had an even lower risk (OR, 0.709; P=0.005) compared with that in the C/C genotype group. In the stratified analyses of non-smokers, individuals with the C/T or T/T genotype had a lower risk of developing lung cancer compared with that in those carrying the C/C genotype (OR, 0.681; P=0.013; and OR, 0.569; P= 0.021, respectively). The stratified analyses of the BRCA1 rs799917 polymorphism based on pathological type, chemotherapy and radiotherapy, showed that in the squamous cell carcinoma, non-chemotherapy and non-radiotherapy subgroups, individuals with the T/T genotype had a lower risk of lung cancer compared with that in those carrying the C/C genotype (OR, 0.454; P=0.007; OR, 0.485; P=0.002; and OR, 0.599; P=0.020, respectively). In conclusion, the T allele of the rs799917 SNP in BRCA1 was associated with a lower risk of lung cancer in the ethnic Han Chinese population in Liaoning Province and may represent a protective factor against lung cancer.

Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry

“…In esophageal squamous cell carcinoma, the BRCA1_rs799917 T>C SNP inhibits mir-638-mediated regulation of BRCA, thus reducing BRCA expression and increasing cancer cell proliferation (53). This variant is also linked to a higher risk of gastric, lung, and triple-negative breast cancer (54)(55)(56) (13%), DNAJC (13%), EGFR (13%), MADL (13%), MLH (11%), and PMS (11%)] showed mutation frequencies >10% (Fig. 4A).…”

Whole Exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry

“…We observed a high level of BRCA1 germline mutations in PCa of NG and men of African ancestry. The high rate is driven by the variant BRCA1_rs799917 T>C, which enhances disease risk in triple-negative breast 54 , gastric 52 , esophageal squamous cell 51 , and lung 53 cancers. Results of meta-analyses, however, suggest that this variant is non-pathogenic 63-65 .…”

UGT1A1 Gene Polymorphism Contributes as a Risk Factor for Lung Cancer: A Pilot Study with Patients from the Amazon

“…Genetic susceptibility to lung cancer, often modulated by smoking behavior, has been investigated [ 8 ]. Disease risk may be associated with genetic variables such as single nucleotide polymorphisms (SNPs) in genes related to metabolism, DNA damage repair, and cell cycle control [ 9 , 10 ]. This knowledge is important when it comes to lung cancer, and its use can favor the development of population screening tools [ 11 ].…”