Ontology highlight
ABSTRACT:
SUBMITTER: Germani A
PROVIDER: S-EPMC7563793 | biostudies-literature | 2020 Sep
REPOSITORIES: biostudies-literature
Germani Aldo A Petrucci Simona S De Marchis Laura L Libi Fabio F Savio Camilla C Amanti Claudio C Bonifacino Adriana A Campanella Barbara B Capalbo Carlo C Lombardi Augusto A Maggi Stefano S Mattei Mauro M Osti Mattia Falchetto MF Pellegrini Patrizia P Speranza Annarita A Stanzani Gianluca G Vitale Valeria V Pizzuti Antonio A Torrisi Maria Rosaria MR Piane Maria M
Journal of clinical medicine 20200917 9
The 5-10% of breast/ovarian cancers (BC and OC) are inherited, and germline pathogenic (P) variants in DNA damage repair (DDR) genes <i>BRCA1</i> and <i>BRCA2</i> 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 pathogenic variants in DDR pathway genes other than <i>BRCA1/2</i> and to correl ...[more]