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Article

Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.

European journal of human genetics : EJHG - 1 Aug 2011

Jongmans Marjolijn C J, van der Burgt Ineke, Hoogerbrugge Peter M, Noordam Kees, Yntema Helger G, Nillesen Willy M, Kuiper Roland P, Ligtenberg Marjolijn J L, van Kessel Ad Geurts, van Krieken J Han J M, Kiemeney Lambertus A L M, Hoogerbrugge Nicoline

Abstract excerpt

Noonan syndrome (NS) is characterized by short stature, facial dysmorphisms and congenital heart defects. PTPN11 mutations are the most common cause of NS. Patients with NS have a predisposition for leukemia and certain solid tumors. Data on the incidence of malignancies in NS are lacking. Our objective was to estimate the cancer risk and spectrum in patients with NS carrying a PTPN11 mutation. In addition, we...

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Source

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Identifiers

PMID: 21407260
DOI: 10.1038/ejhg.2011.37
PMCID: PMC3172922

Genes

PTPN11

Provenance

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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