Genetic Variation in Five Genes Important in Telomere Biology and Risk for Breast Cancer.
From: Division of Cancer Epidemiology and Genetics, Clinical Genetics Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA. savagesh@mail.nih.gov
British journal of cancer
- Publish Date: Sep 2007
- ISSN: 0007-0920
- Volume: 97
- Issue: 6
- Pages: 832-6
- Medium: Print
- Language: English
- Citation (JAMA): Savage S A, Chanock S J, Lissowska J, et al. Genetic Variation in Five Genes Important in Telomere Biology and Risk for Breast Cancer.. Br. J. Cancer Sep 2007;97:832-6
Abstract
Telomeres, consisting of TTAGGG nucleotide repeats and a protein complex at chromosome ends, are critical for maintaining chromosomal stability. Genomic instability, following telomere crisis, may contribute to breast cancer pathogenesis. Many genes critical in telomere biology have limited nucleotide diversity, thus, single nucleotide polymorphisms (SNPs) in this pathway could contribute to breast cancer risk. In a population-based study of 1995 breast cancer cases and 2296 controls from Poland, 24 SNPs representing common variation in POT1, TEP1, TERF1, TERF2 and TERT were genotyped. We did not identify any significant associations between individual SNPs or haplotypes and breast cancer risk; however, data suggested that three correlated SNPs in TERT (-1381C>T, -244C>T, and Ex2-659G>A) may be associated with reduced risk of breast cancer among individuals with a family history of breast cancer (odds ratios 0.73, 0.66, and 0.57, 95% confidence intervals 0.53-1.00, 0.46-0.95 and 0.39-0.84, respectively). In conclusion, our data do not support substantial overall associations between SNPs in telomere pathway genes and breast cancer risk. Intriguing associations with variants in TERT among women with a family history of breast cancer warrant follow-up in independent studies.
Mesh Headings (Keywords): Adult, Aged, Breast Neoplasms, Carrier Proteins, Case-Control Studies, DNA, Neoplasm, Female, Genotype, Humans, Middle Aged, Nuclear Proteins, Odds Ratio, Poland, Polymorphism, Single Nucleotide, Risk Assessment, Risk Factors, TATA Box Binding Protein-Like Proteins, Telomerase, Telomere, Telomere-Binding Proteins, Variation (Genetics)
Check for Full Text / PubMed Unique Identifier (PMID): 17848914
This abstract is part of PubMed, a service of the U.S. National Library of Medicine. PubMed includes more than 17 million citations from MEDLINE and other life science journals for biomedical articles. See Copyright and Disclaimers.
Linked medical terms appearing on this page are added by Healia to help readers find more information and are not part of the original PubMed document.
The data herein was last updated on July 8th, 2008 and may not reflect the most current and accurate data available from NLM.