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Article

A lesson from a reported pathogenic variant in Peutz-Jeghers syndrome: a case report.

Familial cancer - 1 Jul 2017

Tan Hu, Wei Xianda, Yang Pu, Huang Yanru, Li Haoxian, Liang Desheng, Wu Lingqian

Abstract excerpt

Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disorder characterized by mucocutaneous hyperpigmentation, gastrointestinal (GI) hamartmatous polyps, and an increased risk of various malignancies. Pathogenic variants in the LKB1 tumor suppressor gene (also known as STK11) are the major cause of PJS. In this study, compound heterozygous variants of LKB1, c.890G > A/ c.1062C > G and del(exon1)/...

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Source

Identifiers

PMID: 28185117
DOI: 10.1007/s10689-016-9963-8

Genes

STK11

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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