The test covers 3 changes (1100delC, IVS2+1GA, I157T) within CHEK2 gene . Variants of this gene increase the risk of developing mainly breast cancer, colorectal cancer, prostate cancer, thyroid carcinoma and kidney carcinoma.
Mutations shortening protein (1100delC, IVS2+1GA) increase the risk of developing: breast cancer (ca. 2.4-fold), prostate cancer (ca. 2.3-fold or 5-fold in family cases), medullary thyroid cancer (ca. 5-fold). "Missense" type of mutation (I157T) increases ca. 1.5-fold the risk of developing breast cancer, 1.6-fold prostate cancer, and also kidney carcinoma (ca. 2-fold), colorectal cancer (ca. 2-fold), medullary thyroid cancer (ca. 2-fold).
This mutation also increases ca. 2-fold the risk of developing ovary cancer with low level of morphological malignancy and 2.5-fold ovary cancer with borderline malignancy. Patients with a mutation in gene CHEK2 and family occurrence of breast cancer are exposed to the risk of developing neoplasm at the level of 25%. Approximately 1/100 people is a carrier of such mutation in Poland. It is recommended to make a carriage test on variant CHEK2 simultaneously with mutations in BRCA1 and BRCA2.
Test material: full blood (EDTA), cheek swab
Transfer method: blood: 4-10°C (a set for blood tests); cheek swab: room temperature (a set for cheek swabs)
Testing method: Direct sequencing of respective gene’s fragments
Delivery date: up to 10 business days