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919 Genetic multiorgan predisposition for neoplasm – analysis of mutation A148T of CDKN2A (p16) gene

CDKN2A is a protein which performs important functions in the proper cell cycle process. Mutations within CDKN2A gene increase the risk of developing in particular melanoma and pancreas carcinoma and they are responsible for family transmission of these neoplasm types, but they also influence the development of breast cancer, colorectal cancer and lung cancer.

Carriage state of a mutation A148T within gene CDKN2A is connected with ca. 2-fold increase in the risk of developing malignant melanoma and also ca. 1.5-fold increase in the risk of developing breast cancer, ca. 1.5-fold for colorectal cancer and 2-fold for lung cancer as compared to people without the mutation. This mutation is present in ca. 7% of all cases of malignant melanoma, 5% of all breast cancers and also ca. 5% of colorectal cancer and 7% of lung cancer. Therefore, patients suffering from these neoplasm types are recommended to make genetic tests.

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