Colon, lung and ovarian carcinoma –genetic predisposition (3020insC allele)
Analysis ID 16
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Colon, lung and ovarian carcinoma –genetic predisposition (3020insC allele)
OMIM
Clinical information The 3020insC allele results in a truncated NOD2 protein and is present in approximately 7% of the population. The 3020insC allele increases 5-fold possibility of a ductal carcinoma in situ (DCIS) under the age of 50 years. The 3020insC allele increases the risk of colorectal carcinoma 2 times after the age of 60 years and determines approximately 15% of all colorectal carcinomas. This variant also increases the risk of lung (2 times) and ovarian (1,5 times) cancers, where it is present in 12% and 11% of all carcinomas, respectively.
Type of analysis Molecular genetics
Type of biological material 5-10 ml of peripheral blood collected in an EDTA tube
Analyzed genes NOD2 (3020insC)
Analysis description Test determines the presence of 3020insC allele in the NOD2 gene
Analysis indication Familial colon or breast or ovarian carcinoma
Analysis time 3-4 weeks
Refund No
CGM laboratory name Laboratory of Molecular Genetics and Oncology