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
KRAS/NRAS Mutations influence on Metastatic Colorectal Cancer treatment Read More »
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.
Familial Prostate Cancer Read More »
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
[vc_row][vc_column][vc_column_text] del(6q21) Deletion of the long arm of chromosome 6, is detected more often in lymphoproliferatives syndromes in other hematological malignancies. It can be observed in acute lymphoblastic leukemia (ALL), chronic lymphocytic leukemia (CLL), prolymphocytic leukemia and non-Hodgkin lymphomas (NHL ) (15% of cases, sometimes associated with t(14;18) (q32; q21)). del(6q21) is the most common
PAX5/IGH, t(9:14)(p13; q32) t(9:14)(p13; q32) is an atypical recurrent chromosomal abnormality that is detected exclusively in B-cell lymphoproliferative disorders. PAX5 belongs to a family of transcription factors involved in processes of development and its expression is required during the early stages of B cell development. The translocation affects the gene PAX5, which abnormally locates on
BCL6 rearrangements, 3q27 Chromosomal translocations involving band 3q27 (BCL6) with various different partner chromosomes occur in clinicopathologic entities different to B-cell non-Hodgkin lymphoma (B-NHL), including diffuse large B-cell lymphoma (DLBCL), lymphoma of follicular center cell and marginal zone lymphoma; very rarely found in MALT lymphoma, mantle cell lymphoma and chronic lymphocytic leukemia. Using FISH probes
