Quantifying evidence for phenotypic specificity (PP4) for syndromic phenotypes: Large-scale integration of rare germline FH variants from diagnostic laboratory testing for HLRCC and renal cancer.

doi:10.1016/j.gim.2025.101565

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Article

Quantifying evidence for phenotypic specificity (PP4) for syndromic phenotypes: Large-scale integration of rare germline FH variants from diagnostic laboratory testing for HLRCC and renal cancer.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Nov 2025

Allen Sophie, Rowlands Charlie F, Butler Samantha, Durkie Miranda, Horton Carrie, Pesaran Tina, Richardson Marcy, Robinson Rachel, Garrett Alice, Burghel George J, Callaway Alison, Field Joanne, Frugtniet Bethan, Palmer-Smith Sheila, Grant Jonathan, Pagan Judith, McDevitt Trudi, Snape Katie, Andreou Avgi, Maher Eamonn R, Hanson Helen, McVeigh Terri, Turnbull Clare

Abstract excerpt

PURPOSE: Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a rare cancer susceptibility syndrome exclusively attributable to pathogenic variants in FH (HGNC:3700). This article quantitatively weights the phenotypic context (PP4/PS4) of such very rare variants in FH. METHODS: We collated clinical diagnostic testing data on germline FH variants from 387 individuals with HLRCC and 1780 individuals with...

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Topics

Humans
Germ-Line Mutation
Kidney Neoplasms

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

Phenotype

Carcinoma, Renal Cell

Leiomyomatosis

Genetic Predisposition to Disease

Fumarate Hydratase

Mutation, Missense

Neoplastic Syndromes, Hereditary

Genetic Testing

Female

Male

Source

Open in PubMed

Identifiers

PMID: 40916913
DOI: 10.1016/j.gim.2025.101565

Genes

Provenance

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