Detection of Germline Variants in 450 Breast/Ovarian Cancer Families with a Multi-Gene Panel Including Coding and Regulatory Regions

Detection of Germline Variants in 450 Breast/Ovarian Cancer Families with a Multi-Gene Panel Including Coding and Regulatory Regions

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...

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Bibliographic Details
Main Authors: Chiara Guglielmi, Rosa Scarpitta, Gaetana Gambino, Eleonora Conti, Francesca Bellè, Mariella Tancredi, Tiziana Cervelli, Elisabetta Falaschi, Cinzia Cosini, Paolo Aretini, Caterina Congregati, Marco Marino, Margherita Patruno, Brunella Pilato, Francesca Spina, Luisa Balestrino, Elena Tenedini, Ileana Carnevali, Laura Cortesi, Enrico Tagliafico, Maria Grazia Tibiletti, Stefania Tommasi, Matteo Ghilli, Caterina Vivanet, Alvaro Galli, Maria Adelaide Caligo
Format: Article
Language:English
Published: MDPI AG 2021-07-01
Series:International Journal of Molecular Sciences
Subjects:
hereditary breast and ovarian cancer
BRCA1/2
breast cancer predisposition genes
coding variants
non-coding variants
regulatory regions
Online Access:https://www.mdpi.com/1422-0067/22/14/7693

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https://www.mdpi.com/1422-0067/22/14/7693

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