ArticleGenetics in medicine : official journal of the American College of Medical Genetics2026
Cancer risk in adults with pathogenic germline variants in RAS/MAPK genes using genomic ascertainment.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
purposeGenomic 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).
methodsGermline RASopathy variants were examined from adult participants in UK Biobank (UKBB; n = 469,802), Geisinger MyCode (n = 167,050), and Mount Sinai BioMe (n = 30,470). Variants were classified as per American College of Medical Genetics/Association for Molecular Pathology criteria and reviewed by a RASopathy variant expert. Heterozygotes harbored a RASopathy pathogenic/likely pathogenic variant; non-heterozygotes harbored wild type or benign/likely benign RASopathy variation. To distinguish germline variants from clonal hematopoiesis, benign tissues were Sanger sequenced. Phenotype data were extracted.
resultsNoonan syndrome-associated genes heterozygotes (excluding known Noonan syndrome with multiple lentigines variants) were most common with an estimated prevalence ranging between 1:1772 to 1:3330 in the cohorts. In SPRED1 (HGNC:20249) heterozygotes, cancer prevalence was only significantly increased in UKBB (OR: 3.8 [95% CI: 2.48-8.64]; P = 1.2 × 10
conclusionIn some RASopathies, adult cancer risk may not be elevated. These findings merit replication. There may be an increased cancer risk for adult SPRED1 heterozygotes.
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