Assessment of TP53 Polymorphisms and MDM2 SNP309 in Premenopausal Breast Cancer Risk

被引：6
作者：
Samuel, Nardin [1 ,2 ,3 ]
Id Said, Badr [2 ]
Guha, Tanya [2 ]
Novokmet, Ana [2 ]
Li, Weili [4 ]
Silwal-Pandit, Laxmi [5 ]
Borrsen-Dale, Anne-Lise [5 ]
Langerod, Anita [5 ]
Hudson, Thomas J. [6 ]
Malkin, David [1 ,2 ,7 ]
机构：
[1] Univ Toronto, Dept Med Biophys, Toronto, ON, Canada
[2] Hosp Sick Children, Dept Genet & Genome Biol, Toronto, ON, Canada
[3] Ontario Inst Canc Res, Toronto, ON, Canada
[4] Hosp Sick Children, Ctr Appl Genom, Toronto, ON, Canada
[5] Oslo Univ Hosp Radiumhosp, Inst Canc Res, KG Jebsen Ctr Breast Canc Res, Inst Clin Med,Dept Genet, Oslo, Norway
[6] AbbVie Inc, Oncol Discovery & Early Dev, Redwood City, CA USA
[7] Univ Toronto, Dept Pediat, Toronto, ON, Canada
来源：
HUMAN MUTATION | 2017年 / 38卷 / 03期
关键词：
pre-menopausal breast cancer; TP53; PIN3; MDM2; polymorphism; P53; CODON; 72; LUNG-CANCER; MUTATIONS; SUSCEPTIBILITY; METAANALYSIS; SURVIVAL; BRCA1; GENE;
D O I：
10.1002/humu.23154
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
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.
引用
收藏
页码：265 / 268
页数：4
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