Work

RASSF1A and the rs2073498 Cancer Associated SNP

Year: 2011
Type: article
Abstract: RASSF1A is one of the most frequently inactivated tumor suppressors yet identified in human cancer. It is pro-apoptotic and appears to function as a scaffolding protein that interacts with a variety of other tumor suppressors to modulate their function. It can also complex with the Ras oncoprotein and may serve to integrate pro-growth and pro-death signaling pathways. A SNP has been identified that is present in approximately 29% of European populations [rs2073498, A(133)S]. Several studies have now presented evidence that this SNP is associated with an enhanced risk of developing breast cancer. We have used a proteomics based approach to identify multiple differences in the pattern of protein/protein interactions mediated by the wild type compared to the SNP variant protein. We have also identified a significant difference in biological activity between wild type and SNP variant protein. However, we have found only a very modest association of the SNP with breast cancer predisposition.
Language: English
Subfield: Oncology
Field: Medicine
Open Access status: gold
Estimated APC paid: $3,801
OpenAlex ID: W1981610787
FWCI: 1.259
Cites: 58
Cited by: 16
Related to: 10