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Article

Evaluation of BoostDM, a somatic variant prediction tool, for the interpretation of germline variants in hereditary cancer genes.

European journal of human genetics : EJHG - 1 Sept 2026

Munté Elisabet, Muiños Ferran, Marín Raúl, Feliubadaló Lidia, Brando Federica, López-Bigas Núria, Lázaro Conxi, González-Pérez Abel, Valle Laura

Abstract excerpt

Classifying germline variants in hereditary cancer genes remains challenging and requires integrating diverse lines of evidence. BoostDM is a computational method originally developed to identify somatic cancer driver mutations by detecting signals of positive selection. Given the functional overlap between somatic and germline pathogenic variants in cancer genes, we evaluated the utility of BoostDM for...

Read the complete abstract on PubMed

Topics

Humans
Germ-Line Mutation
Mutation, Missense
Genetic Testing
Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Computational Biology

Neoplasms

Software

PTEN Phosphohydrolase

Source

Open in PubMed Open full text

Identifiers

PMID: 41840222
DOI: 10.1038/s41431-026-02077-y
PMCID: PMC13550587

Genes

TP53
ATM
BRCA1
BRCA2
CDH1
PTEN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 2026.

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