Jun 21, 2020

XPC as breast cancer susceptibility gene: evidence from genetic profiling, statistical inferences and protein structural analysis

Breast Cancer : the Journal of the Japanese Breast Cancer Society
Saima Shakil MalikRazia Bano


Gene polymorphisms that affect nucleotide excision repair (NER) pathway may link with higher susceptibility of breast cancer (BC); however, the significance of these associations may vary conferring to the individual ethnicity. Xeroderma pigmentosum complementation gene (XPC) plays a substantial role in recognizing damaged DNA during NER process. To estimate the relationship among XPC polymorphisms and breast cancer (BC) risk, we carried out a case-control-association study with 493 BC cases and 387 controls using TETRA-ARMS-PCR. Distributional differences of clinical features, demographic factors and XPC polymorphisms among BC cases and controls were examined by conditional logistic regression model. Kaplan-Meier test was applied to predict survival distributions and protein structure was predicted using computational tools. Obesity, consanguinity, positive marital status and BC family history were associated (P ≤ 0.01) with higher BC risk. Genotyping revealed significant involvement (P ≤ 0.01) of two XPC polymorphisms rs2228001-A > C (OR = 3.8; CI 1.9-7.6) and rs2733532-C > T (OR = 2.6; CI 1.4-5.03) in BC development, asserting them potential risk factors for increased BC incidence. However, no association (P > 0.05) was dete...Continue Reading

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Mentioned in this Paper

XPC gene
Gene Mutant
Genomic Profile
Family History
Xeroderma Pigmentosum, Group A
Malignant Neoplasm of Breast
XPA gene
Polymerase Chain Reaction
Disease Susceptibility

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