Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population

Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population

Abstract Background The Hereditary Breast and Ovarian Cancer Syndrome (HBOC) occurs in families with a history of breast/ovarian cancer, presenting an autosomal dominant inheritance pattern. BRCA1 and BRCA2 are high penetrance genes associated with an increased risk of up to 20-fold for breast and o...

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Bibliographic Details
Main Authors: Simone da Costa e Silva Carvalho, Nathalia Moreno Cury, Danielle Barbosa Brotto, Luiza Ferreira de Araujo, Reginaldo Cruz Alves Rosa, Lorena Alves Texeira, Jessica Rodrigues Plaça, Adriana Aparecida Marques, Kamila Chagas Peronni, Patricia de Cássia Ruy, Greice Andreotti Molfetta, Julio Cesar Moriguti, Dirce Maria Carraro, Edenir Inêz Palmero, Patricia Ashton-Prolla, Victor Evangelista de Faria Ferraz, Wilson Araujo Silva Jr
Format: Article
Language:English
Published: BMC 2020-02-01
Series:BMC Medical Genomics
Subjects:
HBOC
DNA repair genes
Multi-gene panel screening
Next-generation sequencing
Molecular diagnosis
BRCA1
Online Access:https://doi.org/10.1186/s12920-019-0652-y

Internet

https://doi.org/10.1186/s12920-019-0652-y

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