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Article

Cancer risk in adults with pathogenic germline variants in RAS/MAPK genes using genomic ascertainment.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jun 2026

Kim Jung, Ney Gina, Frone Megan N, Haley Jeremy S, Ramos Mark Louis F, Mirshahi Uyenlinh L, Astiazaran-Symonds Esteban, Shandrina Mariya, Urban Gretchen, Rao H Shanker, Stahl Richard C, Golden Alicia, Yohe Marielle E, Gross Andrea M, Ding Yi, Carey David J, Gelb Bruce D, Stewart Douglas R

Abstract excerpt

PURPOSE: Genomic ascertainment of electronic health record-linked exome data was used to quantify germline pathogenic/likely pathogenic variant prevalence, cancer prevalence, and survival in adults with non-NF1 RAS/mitogen-activated protein kinase genes (RASopathies). METHODS: Germline RASopathy variants were examined from adult participants in UK Biobank (UKBB; n = 469,802), Geisinger MyCode (n = 167,050), and...

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Identifiers

PMID: 41904680
DOI: 10.1016/j.gim.2026.102561
PMCID: PMC13078660

Genes

SPRED1
CBL
NF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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