A novel BRCA1 splicing variant detected in an early onset triple-negative breast cancer patient additionally carrying a pathogenic variant in ATM: A case report

A novel BRCA1 splicing variant detected in an early onset triple-negative breast cancer patient additionally carrying a pathogenic variant in ATM: A case report

The widespread adoption of gene panel testing for cancer predisposition is leading to the identification of an increasing number of individuals with clinically relevant allelic variants in two or more genes. The potential combined effect of these variants on cancer risks is mostly unknown, posing a...

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Bibliographic Details
Main Authors: Mara Colombo, Patrizia Mondini, Elisa Minenza, Claudia Foglia, Annamaria Mosconi, Carmen Molica, Lorenza Pistola, Vienna Ludovini, Paolo Radice
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-03-01
Series:Frontiers in Oncology
Subjects:
BRCA1
ATM
double heterozygote
spliceogenic variant
case report
Online Access:https://www.frontiersin.org/articles/10.3389/fonc.2023.1102184/full

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