Immunology and Molecular Oncology Unit

Padova, Italy

Immunology and Molecular Oncology Unit

Padova, Italy
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Agata S.,Immunology and Molecular Oncology Unit | Oliani C.,Oncology Unit | Barana D.,Oncology Unit | Viel A.,Aviano Oncology Reference Center | And 12 more authors.
Cancer | Year: 2016

BACKGROUND: Male breast cancer (MBC) is a rare disease whose etiology appears to be largely associated with genetic factors. BRCA1 and BRCA2 mutations account for about 10% of all MBC cases. Thus, a fraction of MBC cases are expected to be due to genetic factors not yet identified. To further explain the genetic susceptibility for MBC, whole-exome sequencing (WES) and targeted gene sequencing were applied to high-risk, BRCA1/2 mutation-negative MBC cases. METHODS: Germ-line DNA of 1 male and 2 female BRCA1/2 mutation-negative breast cancer (BC) cases from a pedigree showing a first-degree family history of MBC was analyzed with WES. Targeted gene sequencing for the validation of WES results was performed for 48 high-risk, BRCA1/2 mutation-negative MBC cases from an Italian multicenter study of MBC. A case-control series of 433 BRCA1/2 mutation-negative MBC and female breast cancer (FBC) cases and 849 male and female controls was included in the study. RESULTS: WES in the family identified the partner and localizer of BRCA2 (PALB2) c.419delA truncating mutation carried by the proband, her father, and her paternal uncle (all affected with BC) and the N-acetyltransferase 1 (NAT1) c.97C>T nonsense mutation carried by the proband's maternal aunt. Targeted PALB2 sequencing detected the c.1984A>T nonsense mutation in 1 of the 48 BRCA1/2 mutation-negative MBC cases. NAT1 c.97C>T was not found in the case-control series. CONCLUSIONS: These results add strength to the evidence showing that PALB2 is involved in BC risk for both sexes and indicate that consideration should be given to clinical testing of PALB2 for BRCA1/2 mutation-negative families with multiple MBC and FBC cases. © 2016 American Cancer Society.


Visentin A.,University of Padua | Visentin A.,Venetian Institute of Molecular Medicine | Facco M.,University of Padua | Facco M.,Venetian Institute of Molecular Medicine | And 27 more authors.
Clinical Lymphoma, Myeloma and Leukemia | Year: 2015

Introduction Several prognostic factors have been identified to predict the outcome of patients with chronic lymphocytic leukemia (CLL), but only a few studies analyzed more markers together. Patients and Methods Taking advantage of a population of 608 patients, we identified the strongest prognostic markers of survival and, subsequently, in a cohort of 212 patients we integrated data of cytogenetic lesions, IGHV mutational status, and CD38 expression in a new and easy scoring system we called the integrated CLL scoring system (ICSS). ICSS defines 3 groups of risk: (1) low risk (patients with 13q- or normal fluorescence in-situ hybridization analysis results, mutated IGHV, and CD38) (2) high risk (all 11q- or 17p- patients and/or all unmutated IGHV and CD38+ patients); and (3) intermediate risk (all remaining patients). Results Using only these 3 already available prognostic factors, we were able to properly redefine patients and better predict the clinical course of the disease. Conclusion ICSS could become a useful tool for CLL patients' management. © 2015 Elsevier Inc. All rights reserved.


PubMed | University of Padua, Venetian Institute of Molecular Medicine and Immunology and Molecular Oncology Unit
Type: Journal Article | Journal: Clinical lymphoma, myeloma & leukemia | Year: 2015

Several prognostic factors have been identified to predict the outcome of patients with chronic lymphocytic leukemia (CLL), but only a few studies analyzed more markers together.Taking advantage of a population of 608 patients, we identified the strongest prognostic markers of survival and, subsequently, in a cohort of 212 patients we integrated data of cytogenetic lesions, IGHV mutational status, and CD38 expression in a new and easy scoring system we called the integrated CLL scoring system (ICSS). ICSS defines 3 groups of risk: (1) low risk (patients with 13q(-) or normal fluorescence in-situ hybridization analysis results, mutated IGHV, and CD38) (2) high risk (all 11q(-) or 17p(-) patients and/or all unmutated IGHV and CD38(+) patients); and (3) intermediate risk (all remaining patients).Using only these 3 already available prognostic factors, we were able to properly redefine patients and better predict the clinical course of the disease.ICSS could become a useful tool for CLL patients management.

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