ALDO GERMANI

Dottore di ricerca

ciclo: XXXIII



Titolo della tesi: Molecular Characterization of the Hereditary Breast Cancer from BRCA1 and BRCA2 genes analysis to multi-gene panels

The 5-10% of breast/ovarian cancers (BC and OC) are inherited, and germline patho-genic (P) variants in DNA damage repair (DDR) genes BRCA1 and BRCA2 explain only 10-20% of these cases. Currently, new DDR genes have been related to BC/OC and to pancreatic (PC) cancers, but the prevalence of P variants remains to be explored. The purpose of this study was to investigate the spectrum and the prevalence of pathogen-ic variants in DDR pathway genes other than BRCA1/2 and to correlate the genotype with the clinical phenotype.A cohort of 113 non-BRCA patients was analyzed by next-generation sequencing using a multigene panel of the 25 DDR pathways genes related to BC, OC and PC. We found 43 unique variants in 18 of 25 analyzed genes, 14 classi-fied as P/likely pathogenic (LP) and 28 as variants of uncertain significance (VUS). Deleterious variants were identified in 14% of index cases, whereasand a VUS was identified in 20% of the probands. We observed a high incidence of deleterious vari-ants in theCHEK2 gene and a new pathogenic variant was detected in the RECQL gene. These results support the clinical utility of multigene panel to increase the detection of P/LP carriers and to identify new actionable pathogenic gene variants useful for preventive and therapeutic approaches.

Produzione scientifica

  • 11573/893593 - 2016 - A next-generation sequencing approach to identify gene mutations in early-and late-onset hypertrophic cardiomyopathy patients of an Italian cohort (01a Articolo in rivista)
    RUBATTU, SPERANZA DONATELLA; BOZZAO, CRISTINA; PAGANNONE, ERIKA; MUSUMECI, MARIA BEATRICE; PIANE, MARIA; GERMANI, ALDO; FRANCIA, PIETRO; VOLPE, MASSIMO; AUTORE, CAMILLO; CHESSA, LUCIANA
  • 11573/954156 - 2016 - Novel compound heterozygous mutations in a child with Ataxia-Telangiectasia showing unrelated cerebellar disorders (01a Articolo in rivista)
    PIANE, MARIA; GERMANI, ALDO; CHESSA, LUCIANA
  • 11573/1112499 - 2015 - A SMYD3 small-molecule Inhibitor impairing cancer cell growth (01a Articolo in rivista)
    GERMANI, ALDO
  • 11573/1112494 - 2015 - Loss of STK11 expression is an early event in prostate carcinogenesis and predicts therapeutic response to targeted therapy against MAPK/p38 (01a Articolo in rivista)
    GERMANI, ALDO; BATTAGLIA , MICHELE
  • 11573/1112491 - 2017 - Nano-mechanical characterization of ataxia telangiectasia cells treated with dexamethasone (01a Articolo in rivista)
    BIAGIOTTI, SARA; BIANCHI, MARZIA; GERMANI, ALDO; CHESSA, LUCIANA
  • 11573/1112502 - 2012 - Blocking p38/ERK crosstalk affects colorectal cancer growth by inducing apoptosis in vitro and in preclinical mouse models (01a Articolo in rivista)
    GERMANI, ALDO
  • 11573/557496 - 2014 - Targeted therapy against chemoresistant colorectal cancers: Inhibition of p38α modulates the effect of cisplatin in vitro and in vivo through the tumor suppressor FoxO3A (01a Articolo in rivista)
    GERMANI, ALDO; GROSSI, VALENTINA; PALERMO, ROCCO; CAMPESE, ANTONIO FRANCESCO; CANETTIERI, GIANLUCA
  • 11573/1278668 - 2019 - Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants. An ENIGMA resource to support clinical variant classification (01a Articolo in rivista)
    BARBIERI, ELENA; GERMANI, ALDO
  • 11573/1403890 - 2020 - Risk stratification in hypertrophic cardiomyopathy. Insights from genetic analysis and cardiopulmonary exercise testing (01a Articolo in rivista)
    MAGRI', DAMIANO; MASTROMARINO, VITTORIA; GALLO, GIOVANNA; GIORDANO, DARIO; RUBATTU, SPERANZA DONATELLA; COTUGNO, ENRICO MARIA; TORRISI, MARIA ROSARIA; PETRUCCI, SIMONA; GERMANI, ALDO; MARUOTTI, ANTONELLO; VOLPE, MASSIMO; AUTORE, CAMILLO; PIANE, MARIA; MUSUMECI, MARIA BEATRICE
  • 11573/1442555 - 2020 - Beyond BRCA1 and BRCA2: deleterious variants in DNA repair pathway genes in italian families with breast/ovarian and pancreatic cancers (01a Articolo in rivista)
    GERMANI, ALDO; PETRUCCI, SIMONA; DE MARCHIS, LAURA; AMANTI, CLAUDIO; BONIFACINO, ADRIANA; CAPALBO, CARLO; LOMBARDI, AUGUSTO; MAGGI, STEFANO; OSTI, MATTIA FALCHETTO; PELLEGRINI, PATRIZIA; SPERANZA, ANNARITA; VITALE, VALERIA; PIZZUTI, ANTONIO; TORRISI, MARIA ROSARIA; PIANE, MARIA
  • 11573/1621350 - 2021 - Rna sequencing of primary cutaneous and breast-implant associated anaplastic large cell lymphomas reveals infrequent fusion transcripts and upregulation of PI3K/AKT signaling via neurotrophin pathway genes (01a Articolo in rivista)
    DI NAPOLI, ARIANNA; VACCA, DANIELE; LOPEZ, GIANLUCA; PIANE, MARIA; GERMANI, ALDO; ROGGES, EVELINA; PEPE, GIUSEPPINA
  • 11573/1649089 - 2022 - Genomic Breakpoints’ Characterization of a Large CHEK2 Duplication in an Italian Family with Hereditary Breast Cancer (01i Case report)
    GERMANI, ALDO; GUADAGNOLO, DANIELE; SALVATI, VALENTINA; MICOLONGHI, CATERINA; MASTROMORO, GIOIA; SADEGHI, SOHA; PETRUCCI, SIMONA; PIZZUTI, ANTONIO; PIANE, MARIA
  • 11573/1649987 - 2022 - From Survey Results to a Decision-Making Matrix for Strategic Planning in Healthcare: The Case of Clinical Pathways (01a Articolo in rivista)
    BIANCO, LAVINIA; RAFFA, SALVATORE; FORNELLI, PAOLO; MANCINI, RITA; GERMANI, ALDO; PETRUCCI, SIMONA; ANIBALDI, PAOLO; RONCHETTI, MARIO; BANCHIERI, GIORGIO; NAPOLI, CHRISTIAN; PIANE, MARIA
  • 11573/1659060 - 2022 - A New SMAD4 Splice Site Variant in a Three-Generation Italian Family with Juvenile Polyposis Syndrome (01i Case report)
    MICOLONGHI, CATERINA; PIANE, MARIA; GERMANI, ALDO; SADEGHI, SOHA; RANIERI, DANILO; PIZZUTI, ANTONIO; CORLETO, VITO DOMENICO; PARISI, PASQUALE; VISCO, VINCENZO; DI NARDO, GIOVANNI; PETRUCCI, SIMONA
  • 11573/1668684 - 2022 - Somatic NGS Analysis of DNA Damage Response (DDR) Genes ATM, MRE11A, RAD50, NBN, and ATR in Locally Advanced Rectal Cancer Treated with Neoadjuvant Chemo-Radiotherapy (01a Articolo in rivista)
    MONTORI, ANDREA; GERMANI, ALDO; MILANO, ANNALISA; PIANE, MARIA; PILOZZI, EMANUELA
  • 11573/1178195 - 2018 - Rapid detection of copy number variations and point mutations in BRCA1/2 genes using a single workflow by ion semiconductor sequencing pipeline (01a Articolo in rivista)
    GERMANI, ALDO; MAGGI, STEFANO; LOMBARDI, AUGUSTO; PELLEGRINI, PATRIZIA; DE MARCHIS, LAURA; AMANTI, CLAUDIO; PIZZUTI, ANTONIO; TORRISI, MARIA ROSARIA
  • 11573/1112497 - 2015 - Molecular and functional characterization of three different postzygotic mutations in PIK3CA-related overgrowth spectrum (PROS) patients: effects on PI3K/AKT/mTOR signaling and sensitivity to PIK3 inhibitors (01a Articolo in rivista)
    GERMANI, ALDO; CHESSA, LUCIANA
  • 11573/1532463 - 2021 - TNNI3 and KCNQ1 co-inherited variants in a family with hypertrophic cardiomyopathy and long QT phenotypes: A case report (01a Articolo in rivista)
    CAVA, FRANCESCO; CRISTIANO, ERNESTO; MUSUMECI, MARIA BEATRICE; GERMANI, ALDO; PETRUCCI, SIMONA; TORRISI, MARIA ROSARIA; AUTORE, CAMILLO; RUBATTU, SPERANZA DONATELLA; PIANE, MARIA

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