Lynch syndrome 4 gene panel Hereditary nonpolyposis colon carcinoma (HNPCC) or Lynch syndrome is formally defined molecularly as germline mutations usually identified in any of the four MMR genes: MLH1, MSH2, MSH6 and PMS2; with 90% of the mutations involved in MLH1 (50%) or MSH2 (40%). An accurate molecular diagnosis can help determine if a […]
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Familial adenomatous polyposis 2 genes panel The hereditary nonpolyposis colon cancer, also called familial adenomatous polyposis (FAP) represents nearly 1% of colorectal carcinomas and do not has a characteristic autosomal inheritance pattern. The molecular diagnosis of FAP and AFAP is based on the search for mutations or deletions in the APC gene and / or
MUTYH mutations The MUTYH (mutY Homolog (E. coli) gene is involved in DNA oxidative damage repair. Bi-allelic mutations in this gene are responsible for attenuated familial adenomatous polyposis (PAFA). About 20% of patients negative for mutations in APC have these mutations and have a 5% risk of developing colorectal cancer.
APC mutations APC (Adenomatous Polyposis Coli) gene is a tumor suppressor gene located on chromosome 5q21 that plays a crucial role in the development of colorectal cancer. Constitutional mutations (inherited) in the APC gene are responsible for familial adenomatous polyposis or hereditary nonpolyposis colon cancer, and related syndromes. Over 95% of the known mutations in
