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A retrospective-prospective analysis of a phase 3 randomized trial (Peeters, M. et al. 2015) examined the influence of extended RAS mutation evaluation on second-line efficacy of fluorouracil, leucovorin, and irinotecan (FOLFIRI) plus panitumumab or FOLFIRI alone in 1186 patients with metastatic colorectal cancer (mCRC). RAS mutations beyond KRAS exon 2 (KRAS exons 3, 4, NRAS […]

MMR genes mutations (PMS2) PMS2 (postmeiotic Segregation Increased 2) gene, located on 7p22.2, encodes the PMS2 protein that binds to the MLH1 protein to form a protein complex involved in repairing of DNA replication errors. Mutations of this gene have been found in 2% of patients with Lynch syndrome.

MMR genes mutations (MSH6) MSH6 gene (MutS homolog 6), located on 2p16, encodes a protein that forms a complex with the MMR genes encoded proteins, which coordinates the activity of other proteins that repair DNA replication errors. MSH6 protein binds to the MSH2 protein to form an active complex, if are mutations the abnormal protein

MMR genes mutations (MSH2) MSH2 (MutS, homolog 2) gene located on region 2p21, leads a protein that coordinates DNA repair function in a similar way as described for the MLH1 gene. MSH2 protein binds to two other proteins, MSH6 and MSH3, and the complex coordinates the action of other repair proteins, as described for the

Mutations in MMR genes (MLH1) MLH1 (mutL Homology 1) gene, located on 3p21.3, encodes a protein that plays an essential role in DNA repair. MLH1 protein forms a complex with the protein encoded by the PMS2 gene, and the active complex coordinates the activities of other proteins that repair errors made during DNA replication. More

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

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

PALB2 mutations The PALB2 (partner and localizer of BRCA2) gene encodes for a nuclear protein which co-localizes with BRCA1/2 and acts as functional bridge between the two proteins providing stability to this complex by preventing proteosomal degradation. Germline truncating mutations in PALB2 gene, which is located on chromosome 16p12, have been identified in approximately 3%