Ontology highlight
ABSTRACT:
SUBMITTER: Guglielmi C
PROVIDER: S-EPMC8305371 | biostudies-literature | 2021 Jul
REPOSITORIES: biostudies-literature
Guglielmi Chiara C Scarpitta Rosa R Gambino Gaetana G Conti Eleonora E Bellè Francesca F Tancredi Mariella M Cervelli Tiziana T Falaschi Elisabetta E Cosini Cinzia C Aretini Paolo P Congregati Caterina C Marino Marco M Patruno Margherita M Pilato Brunella B Spina Francesca F Balestrino Luisa L Tenedini Elena E Carnevali Ileana I Cortesi Laura L Tagliafico Enrico E Tibiletti Maria Grazia MG Tommasi Stefania S Ghilli Matteo M Vivanet Caterina C Galli Alvaro A Caligo Maria Adelaide MA
International journal of molecular sciences 20210719 14
With the progress of sequencing technologies, an ever-increasing number of variants of unknown functional and clinical significance (VUS) have been identified in both coding and non-coding regions of the main Breast Cancer (BC) predisposition genes. The aim of this study is to identify a mutational profile of coding and intron-exon junction regions of 12 moderate penetrance genes (<i>ATM</i>, <i>BRIP1</i>, <i>CDH1</i>, <i>CHEK2</i>, <i>NBN</i>, <i>PALB2</i>, <i>PTEN</i>, <i>RAD50</i>, <i>RAD51C< ...[more]