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

Abstract

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
Genes
Family History
Xeroderma Pigmentosum, Group A
Malignant Neoplasm of Breast
XPA gene
Polymerase Chain Reaction
Disease Susceptibility

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