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Article

High cumulative risks of cancer in patients with <i>PTEN</i> hamartoma tumour syndrome

18 Jan 2013

Abstract excerpt

BACKGROUND: PTEN hamartoma tumour syndrome (PHTS) encompasses several clinical syndromes with germline mutations in the PTEN tumour suppressor gene, including Cowden syndrome which is characterised by an increased risk of breast and thyroid cancers. Because PHTS is rare, data regarding cancer risks and genotype-phenotype correlations are limited. The objective of this study was to better define cancer risks in...

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PMID: 23335809
DOI: 10.1136/jmedgenet-2012-101339

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