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Article

Cancer risk and genotype-phenotype correlations in PTEN hamartoma tumor syndrome.

Familial cancer - 1 Mar 2014

Nieuwenhuis Marry H, Kets C Marleen, Murphy-Ryan Maureen, Yntema Helger G, Evans D Gareth, Colas Chrystelle, Møller Pal, Hes Frederik J, Hodgson Shirley V, Olderode-Berends Maran J W, Aretz Stefan, Heinimann Karl, Gómez García Encarna B, Douglas Fiona, Spigelman Allan, Timshel Susanne, Lindor Noralane M, Vasen Hans F A

Abstract excerpt

Patients with germline PTEN mutations are at high risk of developing benign and malignant tumours. We aimed to evaluate the cumulative risk of several types of cancer and of dysplastic cerebellar gangliocytoma (Lhermitte-Duclos disease, LDD). In addition, genotype-phenotype correlations in PTEN h...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23934601
DOI: 10.1007/s10689-013-9674-3

Genes

PTEN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23934601-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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