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Article

A comprehensive custom panel evaluation for routine hereditary cancer testing: improving the yield of germline mutation detection.

Journal of translational medicine - 10 Jun 2020

Velázquez Carolina, Lastra Enrique, Avila Cobos Francisco, Abella Luis, de la Cruz Virginia, Hernando Blanca Ascensión, Hernández Lara, Martínez Noemí, Infante Mar, Durán Mercedes

Abstract excerpt

BACKGROUND: In the context of our Regional Program of Hereditary Cancer, individuals fulfilling the criteria are tested for germline mutations to subsequently establish the clinical management. Our standard diagnostic approach focuses on sequencing a few classic high-risk genes, a method that frequently renders uninformative genetic results. This study aims to examine the improved yield offered by an On-Demand...

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Share to Genes, BRCA2
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 32522261
DOI: 10.1186/s12967-020-02391-z
PMCID: PMC7288470

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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