Filling the gap: A thorough investigation for the genetic diagnosis of unsolved polyposis patients with monoallelic MUTYH pathogenic variants

Autor: Anastasia Dell’Elice, Giulia Cini, Mara Fornasarig, Franco Armelao, Daniela Barana, Francesca Bianchi, Guido Claudio Casalis Cavalchini, Antonella Maffè, Isabella Mammi, Monica Pedroni, Antonio Percesepe, Italo Sorrentini, Mariagrazia Tibiletti, Roberta Maestro, Michele Quaia, Alessandra Viel

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 9, Iss 12, Pp n/a-n/a (2021)

Abstract Backgrounds MUTYH‐associated polyposis (MAP) is an autosomal recessive disease caused by biallelic pathogenic variants (PV) of the MUTYH gene. The aim of this study was to investigate the genetic causes of unexplained polyposis patients wi

Externí odkaz: https://doaj.org/article/99c3afe8a4b24cbf9fe7fbe90e0bfcc3

Definition and management of colorectal polyposis not associated with APC/MUTYH germline pathogenic variants: AIFEG consensus statement

Autor: Emanuele Damiano Luca Urso, Maurizio Ponz de Leon, Marco Vitellaro, Guglielmo Niccolò Piozzi, Quoc Riccardo Bao, Aline Martayan, Andrea Remo, Vittoria Stigliano, Cristina Oliani, Emanuela Lucci Cordisco, Salvatore Pucciarelli, Guglielmina Nadia Ranzani, Alessandra Viel, Francesca Adami, Elisa Alducci, Lucia Amadori, Valentina Arcangeli, Luisa Balestrino, Daniela Barana, Lucio Bertario, Bernardo Bonanni, Stefania Boni, Pierluigi Bullian, Fiorella Carbonardi, Ileana Carnevali, Paola Castelli, Francesco Celotto, Giulia Cini, Gino Crivellari, Duilio Della Libera, Anastasia Dell'elice, Maria Digennaro, Alessandra D'urso, Antonella Fabretto, Daniele Fanale, Irene Feroce, Daniela Furlan, Paola Ghiorzo, Mara Giacché, Milena Gusella, Barbara Liserre, Isabella Mammi, Stefania Massuras, Daniela Mazzà, Eleonora Mollica, Alberto Morabito, Giorgia Nardo, Flavia Palermo, Elena Panizza, Margherita Patruno, Monica Pedroni, Valeria Grazia Maria Pensotti, Guglielmo Niccolo Piozzi, Simonetta Pozzi, Silvia Presi, Marta Puzzono, Mila Ravegnani, Maria Teresa Ricci, Luca Roncucci, Giovanni Battsita Rossi, Elena Maria Sala, Lupe Sanchez Mete, Daniele Sandonà, Stefania Sciallero, Davide Serrano, Stefano Signoroni, Francesca Spina, Monica Taborelli, Gianluca Tedaldi, Maria Grazia Tibiletti, Silvia Tognazzo, Gianluca Tolva, Cristina Maria Concetta Trovato, Daniela Turchetti, Dora Varvara, Caterina Vivanet, Stefania Zovato, Raffaella Alessia Zuppardo

An expert consensus panel convened by the Italian Association for Inherited and Familial Gastrointestinal Tumors (Associazione Italiana per lo Studio della Familiarita ed Ereditarieta dei Tumori Gastrointestinali, AIFEG) reviewed the literature and a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f531438840439dfae0dfb7c41cf93d16
http://hdl.handle.net/11577/3409650

A genetic model for determining MSH2 and MLH1 carrier probabilities based on family history and tumor microsatellite instability

Autor: Alessandra Viel, Piero Benatti, Chiara Pastrello, Daniela Barana, Silvano Presciuttini, Cristina Oliani, Fabio Marroni, M. Ponz de Leon, Emanuela Lucci Cordisco, Maurizio Genuardi, Margherita Torrini, Joan E. Bailey-Wilson, Cristina Mareni

Publikováno v: Clinical Genetics. 69:254-262

Mutation-predicting models can be useful when deciding on the genetic testing of individuals at risk and in determining the cost effectiveness of screening strategies at the population level. The aim of this study was to evaluate the performance of a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f0f7b71cbe349cad07533e5b2df20b0a
https://doi.org/10.1111/j.1399-0004.2006.00577.x

MUTYH c.933+3A>C, associated with a severely impaired gene expression, is the first Italian founder mutation in MUTYH-Associated Polyposis

Autor: Chiara Pastrello, Maurizio Genuardi, Stefan Aretz, Daniela Barana, Alessandra Viel, Laura Papi, Elisa Pin, Alessio Fornasin, Marco Agostini, Ileana Carnevali, Rossella Tricarico, Roberta Maestro, Mara Fornasarig, Michele Quaia, Cristina Oliani

MUTYH variants are differently distributed in geographical areas of the world. In MUTYH-associated polyposis (MAP) patients from North-Eastern Italy, c.933+3A>C (IVS10+3A>C), a transversion causing an aberrant splicing process, accounts for nearly 1/

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59f126991c06846298723a7d2f56a483
http://hdl.handle.net/11577/3459930

Germline novel MSH2 deletions and a founder MSH2 deletion associated with anticipation effects in HNPCC

Autor: Alessandro Stella, Daniela Barana, Ada Piepoli, Ginevra Guanti, Patrizia Lastella, Cristina Oliani, M.G. Tibiletti, C. Natale, Nicoletta Concetta Surdo, Alessandra Viel, Giancarlo Marra

Publikováno v: Clinical genetics. 71(2)

Hereditary non-polyposis colorectal cancer (HNPCC) is caused by inactivating mutations of DNA mismatch repair genes. Large genomic rearrangements in these genes have been increasingly recognized as important causes of HNPCC. Using multiplex ligation-

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09ad1b5c8db7fa40ea5bac3ee24757c5
https://pubmed.ncbi.nlm.nih.gov/17250661