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Article

A literature review and pooled case analysis of cardiofaciocutaneous syndrome to estimate cancer risk.

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

Bess Jazmyn, Brown Toniya, Bhala Sonia, Faizer Anaqa, Ahmadzada Muzzammil, Livinski Alicia A, Pemov Alex, Kim Jung, Rosenberg Philip S, Ney Gina M, Stewart Douglas R

Abstract excerpt

PURPOSE: We quantified cancer risk in cardiofaciocutaneous syndrome (CFC), a rare RASopathy. METHODS: From a comprehensive search, we reviewed articles from 5 databases and abstracted CFC cases with a clinical and/or molecular diagnosis to form a retrospective cohort. We collected information on BRAF, KRAS, MAP2K1, and MAP2K2 genetic variants when available. Genotype-phenotype (cancer) correlations, standardized...

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

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Source

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Identifiers

PMID: 40196938
DOI: 10.1016/j.gim.2025.101423
PMCID: PMC12229772

Genes

BRAF
MAP2K1
MAP2K2
KRAS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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