Genetic polymorphisms of multiple DNA repair pathways impact age at diagnosis and TP53 mutations in breast cancer

Defective DNA repair may contribute to early age and late stage at time of diagnosis and mutations in critical tumor suppressor genes, such as TP53 in breast cancer. Using DNA samples from 436 breast cancer cases (374 Caucasians and 62 African-Americans), we tested these associations with 18 non-syn...

Full description

Saved in:
Bibliographic Details
Published in:Carcinogenesis (New York) 2011-09, Vol.32 (9), p.1354-1360
Main Authors: SMITH, Tasha R, WEN, Liu-Mares, HU, Jennifer J, VAN EMBURGH, Beth O, LEVINE, Edward A, ALLEN, Glenn O, HILL, Jeff W, REIS, Isildinha M, KRESTY, Laura A, PEGRAM, Mark D, MILLER, Mark S
Format: Article
Language:English
Subjects:
Adult
Age Factors
Aged
Biological and medical sciences
Body Mass Index
Breast Neoplasms - genetics
Breast Neoplasms - pathology
Carcinogenesis, carcinogens and anticarcinogens
Cell Cycle Proteins - genetics
DNA Repair
DNA-Binding Proteins - genetics
Female
Genes, p53
Gynecology. Andrology. Obstetrics
Humans
Mammary gland diseases
Medical sciences
Middle Aged
Molecular Epidemiology
Mutation
Neoplasm Staging
Nuclear Proteins - genetics
Polymorphism, Genetic
Polymorphism, Single Nucleotide
Tumors
X-ray Repair Cross Complementing Protein 1
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Defective DNA repair may contribute to early age and late stage at time of diagnosis and mutations in critical tumor suppressor genes, such as TP53 in breast cancer. Using DNA samples from 436 breast cancer cases (374 Caucasians and 62 African-Americans), we tested these associations with 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways: (i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) double-strand break repair: NBS1 E185Q and XRCC3 T241M; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q. Younger age at diagnosis (
ISSN:0143-3334
1460-2180
DOI:10.1093/carcin/bgr117