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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%

BRCA2 mutations BRCA2 (Breast Cancer Susceptibility Gene 2) is a large tumor suppressor gene, located in the 13q12 region and has 26 exons. BRCA2 protein functions in the Fanconi anemia pathway, which is partly responsible for genome-maintenance. There are over 1200 BRCA2 germline mutations described in this gen, being the majority (80%) nonsense or frameshift

BRCA1 mutations BRCA1 (Breast Cancer Susceptibility Gene 1) is a large tumor suppressor gene, located in the 17q21 region and has 24 exons. The protein plays a central role in maintaining genomic structural stability. There are over 1500 mutations described in this gene and no hot spots are being found. Women patients presenting mutations in

RAS mutation status influence on the treatment effect of panitumumab has been evaluated in a recent prospective-retrospective multicenter analysis (Peeters, M et al.). This retrospective-prospective analysis of a phase 3 randomized trial 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

Hereditary and Familial Prostate Cancer 3 gene panel Affected patients of Hereditary Prostate Cancer families should consider being tested for the most frequently inherited genetic defects identified in Familial Prostate Cancer: BRCA2, PALB2, and ATM germline mutations.

While the negative prognostic role of BRAF V600E mutation in metastatic colorectal cancer (mCRC) is well-established, the impact of BRAF codons 594 and 596 mutations, occurring in <1% of CRCs, is completely unknown. Recent studies at three Italian Institutions suggest that patients with BRAF codons 594 or 596 mutated tumors had markedly longer overall survival

CCND1-IGH, t(11;14)(q13;q32) Mantle cell lymphoma is a subtype of non-Hodgkin lymphoma characterized by poor prognosis. Cytogenetically t(11;14) is associated with 75% of mantle cells lymphomas. The translocation breakpoints are scattered within the 120 kb BCL1 region adjacent to CCND1. The translocation leads to overexpression of cyclin D1 due to juxtaposition of the Ig heavy chain

IGH-BCL2, t(14;18) (q32;q21) The t(14;18) chromosomal translocation that results in the juxtaposition of the BCL2 proto-oncogene with the heavy chain JH locus. It a common cytogenetic abnormality in human lymphoma and is observed in about 85% of follicular lymphoma and up to one-third of diffuse lymphomas. Two breakpoint region clusters (brc) have been identified: a