Association between TP53 R249S mutation and polymorphisms in TP53 intron 1 in hepatocellular carcinoma

被引：13

作者：

Ortiz-Cuaran, Sandra ^{[1
]}

Cox, David ^{[2
]}

Villar, Stephanie ^{[1
]}

Friesen, Marlin D. ^{[3
]}

Durand, Geoffroy ^{[1
]}

Chabrier, Amelie ^{[1
]}

Khuhaprema, Thiravud ^{[4
]}

Sangrajrang, Suleeporn ^{[4
]}

Ognjanovic, Simona ^{[5
,6
]}

Groopman, John D. ^{[3
]}

Hainaut, Pierre ^{[1
]}

Le Calvez-Kelm, Florence ^{[1
]}

机构：

[1] Int Agcy Res Canc, F-69372 Lyon, France

[2] Canc Res Ctr Lyon, INSERM, U1052, Lyon, France

[3] Johns Hopkins Univ, Bloomberg Sch Publ Hlth, Baltimore, MD USA

[4] Natl Canc Inst, Bangkok, Thailand

[5] Univ Minnesota, Masonic Canc Ctr, Minneapolis, MN USA

[6] Int Prevent Res Inst, Lyon, France

来源：

GENES CHROMOSOMES & CANCER | 2013年 / 52卷 / 10期

关键词：

P53; CANCER; DNA; VARIANTS; PATHWAY; RISK;

D O I：

10.1002/gcc.22086

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Over 100 single nucleotide polymorphisms (SNP) are validated in the TP53 tumor suppressor gene. They define haplotypes, which may differ in their activities. Therefore, mutation in cancer may occur at different rates depending upon haplotypes. However, these associations may be masked by differences in mutations types and causes of mutagenesis. We have analyzed the associations between 19 SNPs spanning the TP53 locus and a single specific aflatoxin-induced TP53 mutation (R249S) in 85 in hepatocellular carcinoma cases and 132 controls from Thailand. An association with R249S mutation (P=0.007) was observed for a combination of two SNPs (rs17882227 and rs8064946) in a linkage disequilibrium block extending from upstream of exon 1 to the first half of intron 1. This domain contains two coding sequences overlapping with TP53 (WRAP53 and Hp53int1) suggesting that sequences in TP53 intron 1 encode transcripts that may modulate R249S mutation rate in HCC. (c) 2013 Wiley Periodicals, Inc.

引用

页码：912 / 919

页数：8

共 25 条

[1] Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells [J].