CHEK2 ( genetic predisposition I157T )
Analysis ID 19
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness CHEK2 ( genetic predisposition I157T )
OMIM
Clinical information
Type of analysis molekularne
Type of biological material 5 ml peripheral blood collected in the EDTA tube
Analyzed genes CHEK2
Analysis description Changes resulting in truncated CHEK2 protein (1100delC and IVS2+1G>A) increase 2,4 times the risk for breast cancer (mostly lobular cancer) and occur in 2,5% of all breast cancers; increase 2,3 times risk for prostate cancer and occur in 2,5% of all prostate cancers; increase 5 times risk for prostate cancer if a first-degree relative is affected. The changes increase 5 times the risk for thyroid cancer and occur in 4% of papillary thyroid cancers. Missense change I157T in the CHEK2 gene increases 1,5 times the risk for breast cancer and occurs in 7% of all breast cancers, as well as increases 1,6 times the risk for prostate cancer and occurs in 8% of all prostate cancers. Additionally, the missense variant increases 2 times the risk for papillary thyroid cancer, kidney, colon, and ovarian cancers with low grade of malignancy.
Analysis indication Analysis recommended for familial risk of cancer
Analysis time 3-4 weeks
Refund No
CGM laboratory name