TITLE:
Cancer Susceptibility for Male Breast Cancer Assessed by SNP-A Analysis and Risk Alleles of TP53, MDM2, VEGF, VEGFR1, HIF1A and BRCA1
AUTHORS:
Sarika Sharma, Vasudha Sambyal, Kamlesh Guleria, Ruhi Kapahi, Neeti Rajan Singh, Mridu Manjari
KEYWORDS:
Breast Cancer, Aneuploidy, Polymorphism, CN-LOH, SNP-A
JOURNAL NAME:
Advances in Breast Cancer Research,
Vol.10 No.4,
October
29,
2021
ABSTRACT: Male Breast Cancer (MBC) has a familial component
thus identification of polymorphic risk alleles of candidate genes and/or
cytogenetic anomalies may help to predict the risk for the offspring of MBC
patients. The conventional metaphase cytogenetics can indicate loci that are
hotspots while analysis by single nucleotide polymorphism arrays (SNP-A) can
identify chromosomal defects which may play
a role in the etiology of cancer. A cumulative genotype risk due to each
allele of candidate genes of the signaling pathways regulating c-MYC, HIF1A, TP53 and BRCA1 may be a factor facilitating
cancer development. Cancer risk was assessed
in a 35-year-old healthy son of a 60-year-old MBC patient with a family history of cancer by metaphase cytogenetics, SNP-A and analysis of 25 polymorphisms in six
genes TP53, MDM2, VEGF, VEGFR1, HIF1A, and BRCA1. The risk genotype GG-TT of MDM2 309T > G and VEGF-417C/T polymorphisms along with
chromosomal instability shown by cytogenetic analysis and SNP-A, rare de novo duplication Yp, deletion in 7q
pericentromeric region indicate an increased risk of cancer in the healthy son
of an MBC patient.