Literature DB >> 18757339

Clinical classification of BRCA1 DNA missense variants: H1686Q is a novel pathogenic mutation occurring in the ontogenetically invariant THV motif of the N-terminal BRCT domain.

Giuseppe Giannini, Carlo Capalbo, Laura Ottini, Amelia Buffone, Laura De Marchis, Elena Margaria, Domenico Vitolo, Enrico Ricevuto, Christian Rinaldi, Massimo Zani, Sergio Ferraro, Paolo Marchetti, Enrico Cortesi, Luigi Frati, Isabella Screpanti, Alberto Gulino.   

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Year:  2008        PMID： 18757339     DOI： 10.1200/JCO.2008.18.2089

Source DB:  PubMed          Journal:  J Clin Oncol        ISSN： 0732-183X            Impact factor:   44.544


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  7 in total

1.  BRCA1/2 sequence variants of uncertain significance: a primer for providers to assist in discussions and in medical management.

Authors:  Noralane M Lindor; David E Goldgar; Sean V Tavtigian; Sharon E Plon; Fergus J Couch
Journal:  Oncologist       Date:  2013-04-24

2.  Effective treatment of a platinum-resistant cutaneous squamous cell carcinoma case by EGFR pathway inhibition.

Authors:  Carlo Capalbo; Francesca Belardinilli; Marco Filetti; Claudia Parisi; Marialaura Petroni; Valeria Colicchia; Alessandra Tessitore; Matteo Santoni; Anna Coppa; Giuseppe Giannini; Paolo Marchetti
Journal:  Mol Clin Oncol       Date:  2018-05-21

3.  Identification of a Danish breast/ovarian cancer family double heterozygote for BRCA1 and BRCA2 mutations.

Authors:  Ane Y Steffensen; Lars Jønson; Bent Ejlertsen; Anne-Marie Gerdes; Finn C Nielsen; Thomas V O Hansen
Journal:  Fam Cancer       Date:  2010-09       Impact factor: 2.375

4.  Optimizing the identification of risk-relevant mutations by multigene panel testing in selected hereditary breast/ovarian cancer families.

Authors:  Anna Coppa; Arianna Nicolussi; Sonia D'Inzeo; Carlo Capalbo; Francesca Belardinilli; Valeria Colicchia; Marialaura Petroni; Massimo Zani; Sergio Ferraro; Christian Rinaldi; Amelia Buffone; Armando Bartolazzi; Isabella Screpanti; Laura Ottini; Giuseppe Giannini
Journal:  Cancer Med       Date:  2017-12-22       Impact factor: 4.452

5.  Circulating MicroRNAs in Elderly Type 2 Diabetic Patients.

Authors:  Giuseppina Catanzaro; Zein Mersini Besharat; Martina Chiacchiarini; Luana Abballe; Claudia Sabato; Alessandra Vacca; Paola Borgiani; Francesco Dotta; Manfredi Tesauro; Agnese Po; Elisabetta Ferretti
Journal:  Int J Endocrinol       Date:  2018-04-10       Impact factor: 3.257

6.  Gene-specific methylation profiles in BRCA-mutation positive and BRCA-mutation negative male breast cancers.

Authors:  Piera Rizzolo; Valentina Silvestri; Virginia Valentini; Veronica Zelli; Ines Zanna; Giovanna Masala; Simonetta Bianchi; Domenico Palli; Laura Ottini
Journal:  Oncotarget       Date:  2018-04-13

7.  Next-generation sequencing of BRCA1 and BRCA2 genes for rapid detection of germline mutations in hereditary breast/ovarian cancer.

Authors:  Arianna Nicolussi; Francesca Belardinilli; Yasaman Mahdavian; Valeria Colicchia; Sonia D'Inzeo; Marialaura Petroni; Massimo Zani; Sergio Ferraro; Virginia Valentini; Laura Ottini; Giuseppe Giannini; Carlo Capalbo; Anna Coppa
Journal:  PeerJ       Date:  2019-04-22       Impact factor: 2.984
  7 in total

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