NDLI: A breast cancer risk haplotype in the caspase-8 gene

Content Provider	PubMed Central
Author	Shephard, Neil Duncan Abo, Ryan Rigas, Sushila Harkisandas Frank, Bernd Lin, Wei-yu Brock, Ian Wallace Shippen, Adam Balasubramanian, Sabapathy Prakash Reed, Malcolm Walter Ronald Bartram, Claus Rainer Meindl, Alfons Schmutzler, Rita Katharina Engel, Christoph Burwinkel, Barbara Anne, Cannon-albright Lisa Kristina, Allen-brady Camp, Nicola Jane Cox, Angela
Abstract	Recent large-scale studies have been successful in identifying common, low penetrance variants associated with common cancers. One such variant in the caspase-8 (CASP8) gene, D302H (rs1045485), has been confirmed to be associated with breast cancer risk, although the functional impact of this polymorphism (if any) is not yet clear. In order to further map the CASP8 gene with respect to breast cancer susceptibility, we performed extensive haplotype analyses using single nucleotide polymorphisms (SNPs) chosen to tag all common variation in the gene (tSNPs). We used a staged study design based on 3200 breast cancer and 3324 control subjects from the UK, Utah and Germany. Using a haplotype-mining algorithm in the UK cohort, we identified a 4-SNP haplotype that was significantly associated with breast cancer and superior to any other single or multi-locus combination (P=8.0×10−5), with a per allele odds ratio and 95% confidence interval [OR (95% CI)] of 1.30 (1.12, 1.49). The result remained significant after adjustment for the multiple testing inherent in mining techniques (false discovery rate (FDR), q=0.044). As expected, this haplotype includes the D302H locus. Multi-center analyses on a subset of the tSNPs yielded consistent results. This risk haplotype is likely to carry one or more underlying breast cancer susceptibility alleles, making it an excellent candidate for re-sequencing in homozygous individuals. An understanding of the mode of action of these alleles will aid risk assessment and may lead to the identification of novel treatment targets in breast cancer.
Related Links	http://dx.doi.org/10.1158/0008-5472.can-08-4266
Ending Page	2728
Page Count	5
Starting Page	2724
File Format	PDF
ISSN	00085472
e-ISSN	15387445
Journal	Cancer research
Issue Number	7
Volume Number	69
Language	English
Publisher Date	2009-03-01
Access Restriction	Open
Subject Keyword	Cancer Research Oncology Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	Cancer Research Oncology

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