Identifying germline pathogenic variants in breast cancer using tumor sequencing

Identifying germline pathogenic variants in breast cancer using tumor sequencing

Purpose: To investigate the performance of an in-house tumor sequencing panel to identify patients with breast cancer and a germline pathogenic variant (gPV). Patients and methods: Retrospective and blinded tumor sequencing analysis in 90 patients with breast cancer and prior germline genetic testin...

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Main Authors: Mara Cruellas, Andri Papakonstantinou, Adrià López-Fernández, Ester Castillo, Judit Matito, Marina Gómez, Alejandra Rezqallah, Sharela Vega, Víctor Navarro, Maite Torres, Alejandro Moles-Fernández, Cristina Saura, Ana Vivancos, Judith Balmaña, Mafalda Oliveira
Format: Article
Language:English
Published: Elsevier 2025-06-01
Series:Breast
Subjects:
Breast cancer
Tumor sequencing
Hereditary cancer
BRCA1
BRCA2
Online Access:http://www.sciencedirect.com/science/article/pii/S0960977625004564
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http://www.sciencedirect.com/science/article/pii/S0960977625004564

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