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Cancer-causing MAP2K1 mutation in a mosaic patient with cardio-facio-cutaneous syndrome and immunodeficiency.

Human mutation - 1 Dec 2022

Zakharova Victorya, Raykina Elena, Mersiyanova Irina, Deordieva Ekaterina, Pershin Dmitry, Vedmedskia Victorya, Rodina Yulia, Kuzmenko Natalia, Maschan Michael, Shcherbina Anna

Abstract excerpt

RASopathies are disorders caused by germline mutations in genes that encode components of the RAS/mitogen-activated protein kinase (MAPK) pathway. These syndromes share features of developmental delay, facial dysmorphisms, and defects in various organs, as well as cancer predisposition. Somatic mutations of the same pathway are one of the primary causes of cancer. It is thought that germline cancer-causing...

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PMID: 36054331
DOI: 10.1002/humu.24463

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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