Question ID: WS-76
Submitted by: Christian Kratz
March 7, 2011
Do risk SNPs in genes that are also somatically mutated in cancer increase the likelihood of acquiring a somatic mutation of this gene? Background: Several GWAS have found robust associations between different types of cancer and risk SNPs at genes that are also somatically mutated in cancer. Examples include SNPs at CDKN2A-CDKN2B (childhood acute lymphoblastic leukemia, glioma, melanoma, basal cell carcinoma), IKZF (childhood acute lymphoblastic leukemia), TACC3-FGFR3 (urinary bladder cancer), and LMO1 (neuroblastoma). It is unknown how the germline SNPs and the somatic lesions are mechanistically connected. Feasibility: Rapidly evolving molecular methods (e.g. next generation sequencing) have created opportunities for studying the relationship of germline and somatic defects. Moreover, biorepositories are now frequently collecting both tumor and unaffected tissue or blood. Implications of success: A deeper understanding of how variations in the genome that are identified through GWAS can promote cancer.
| This question has not yet been evaluated by users |
Comments
