Breast, ovarian , colorectal, prostate gland, renal carcinoma, thymus gland carcinoma- susceptibility to -CHEK2 ((1100delC, IVS2+1GA, I157T)
Analysis ID 10
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Breast, ovarian , colorectal, prostate gland, renal carcinoma, thymus gland carcinoma- susceptibility to -CHEK2 ((1100delC, IVS2+1GA, I157T)
OMIM +604373
Clinical information The CHEK2 protein is involved in the DNA damage response in many cell types and is therefore a good candidate for a multisite cancer susceptibility gene. Mutations in the CHEK2 gene (1100delC, IVS2+1GA, I157T) increase the risk of breast cancer (OR=2,4; found in 2,5% of all breast cancers), prostate cancer (OR= 2,3; present in 2,5% of all prostate cancers). Alteration resulting in truncated protein increase papillary thyroid carcinoma 5 fold. Mutations are present in 4% of all papillary carcinomas. Missense CHEK2 variant (I157T) increases the risk of breast cancer (OR=1,5 and is present in 7% of all breast carcinoma), prostate cancer (OR=1,6 and shows up in 8% of all prostate cancer), papillary thyroid carcinoma (OR=2.0), renal cell carcinoma (OR= 2.0 and is present in 10% of all renal carcinomas), colorectal carcinoma (2.0), and ovarian carcinoma with low risk of malignancy.
Type of analysis Molecular
Type of biological material 5-10 ml peripheral blood collected in an EDTA tube
Analyzed genes CHEK2
Analysis description Test determines the presence of 1100delC, IVS2+1GA, I157T alleles in the CHEK2 gene
Analysis indication Familial breast, ovarian, colorectal, prostate gland, renal carcinoma, thymus gland carcinoma
Analysis time 3-4 weeks
Refund No
CGM laboratory name Laboratory for Molecular Genetics and Oncology