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Article

Reassessment of variants of uncertain significance in tumor suppressor genes using new ClinGen PP1/PP4 criteria guidance.

European journal of human genetics : EJHG - 1 Oct 2025

Kim Young-Gon, Ha Changhee, Jang Ja-Hyun, Jang Mi-Ae, Kim Jong-Won

Abstract excerpt

Recently, new clinical genome resource (ClinGen) guidance focusing on cosegregation (PP1) and phenotype-specificity criteria (PP4) were introduced, based on the observation that the phenotype specificity could provide greater level of pathogenicity evidence. This study aimed to reassess variants of uncertain significance (VUS) found in tumor suppressor genes with specific phenotypes using these new...

Topics

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FH gene
NF1 gene
PTCH1 gene
RB1 gene
Genes, Tumor Suppressor

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genetic Testing

Germ-Line Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 40702147
DOI: 10.1038/s41431-025-01911-z
PMCID: PMC12480980

Genes

STK11
FH
NF1
PTCH1
RB1
TSC1
TSC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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