Association between single nucleotide polymorphisms of DNA damage response pathway genes and increased risk in breast cancer

We aimed to evaluate the role of selected single nucleotide polymorphisms of DNA damage response pathway genes in breast cancer (BC). In present study, 500 BC patients and 500 controls was used to estimate the frequency of single nucleotide polymorphisms of DNA damage response pathway genes. Tetra-a...

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Bibliographic Details
Published in:Future oncology (London, England) England), 2020-09, Vol.16 (26), p.1977-1995
Main Authors: Mehmood, Azhar, Kayani, Mahmood Akhtar, Ahmed, Malik Waqar, Nisar, Asif, Mahjabeen, Ishrat
Format: Article
Language:English
Subjects:
Age
Breast cancer
Cancer therapies
Cell cycle
Chemotherapy
DDR pathway
Deoxyribonucleic acid
DNA
DNA damage
gene
Genes
Genomes
Kinases
Mutation
Pancreatic cancer
Patients
Polymorphism
Proteins
Radiation therapy
treatment modalities
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Summary:We aimed to evaluate the role of selected single nucleotide polymorphisms of DNA damage response pathway genes in breast cancer (BC). In present study, 500 BC patients and 500 controls was used to estimate the frequency of single nucleotide polymorphisms of DNA damage response pathway genes. Tetra-amplification refractory mutation system-PCR technique was used for screening of the six selected polymorphisms. Logistic regression analysis showed that heterozygous mutant genotype of rs1800057 (p < 0.0001) and homozygous mutant genotype of rs1801516 (p < 0.0001) was associated with significant increased risk of BC. In the gene, heterozygous mutant genotype of rs2227931 (p < 0.0001) was associated with significant increased risk of BC. However, significant decreased risk of BC was found associated with heterozygous mutant genotype of rs2227928 (p < 0.0002) and homozygous mutant genotype of rs2229032 (p < 0.0001) in patients compared with controls. The present results showed that alteration in DNA damage response pathway gene ( & ) results in increased BC risk.
ISSN:1479-6694
1744-8301
DOI:10.2217/fon-2020-0086