Erschienen in:
01.11.2006 | Poster Presentation
Role of CASP8 D302H and other apoptosis gene variants in breast cancer
verfasst von:
SH Mistry, S Rafii, AL Shippen, G MacPherson, S Balasubramanian, MW Reed, A Cox
Erschienen in:
Breast Cancer Research
|
Sonderheft 2/2006
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Excerpt
It is well established that perturbations in high penetrance genes such as
BRCA1 and
BRCA2 predispose to breast cancer. However, low penetrance genes are still under investigation. Some apoptotic genes (for example,
BIRC5,
BCL2,
DR4 and
DR5) have been implicated, and we reported that a coding single nucleotide polymorphism (SNP) in the caspase 8 gene (
CASP8 D302H) is associated with a reduced risk of breast cancer [
1]. We hypothesise that
CASP8 and other apoptotic genes may play an important role in breast cancer susceptibility. The objectives were to study the functional effect of
CASP8 D302H on apoptosis, and to perform a case-control analysis of other
CASP8 variants to determine their effect on breast cancer susceptibility. …