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Assessment of TP53 Polymorphisms and MDM2 SNP309 in Premenopausal Breast Cancer Risk
Author(s) -
Samuel Nardin,
Id Said Badr,
Guha Tanya,
Novokmet Ana,
Li Weili,
SilwalPandit Laxmi,
BørrsenDale AnneLise,
Langerød Anita,
Hudson Thomas J.,
Malkin David
Publication year - 2017
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.23154
Subject(s) - breast cancer , oncology , biology , cohort , cancer , germline , medicine , germline mutation , allele , genetics , gene , mutation
Germline polymorphic variants in cancer predisposition genes such as TP53 have been shown to impact the risk of premenopausal cancer. Accordingly, the aim of this study was to assess the spectrum of polymorphisms in TP53 and its negative regulatory gene, MDM2 (SNP309:T>G) in patients with premenopausal breast cancer. Our findings in a cohort of 40 female patients demonstrate no significant correlation between the studied polymorphisms and risk of premenopausal breast cancer. Although one polymorphism is found in high frequency in this cohort (rs1800372:A>G, 9.0%), it was not associated with the risk of developing cancer before the age of 35 years in an extended cohort of 1,420 breast cancer cases. Functional studies of the rs1800372:A>G polymorphic allele reveal that it does not affect p53 transactivation function. Further study of variants or mutations in other cancer susceptibility genes is warranted to refine our understanding of the germline contribution to premenopausal breast cancer susceptibility.