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Article

Specific Alu elements involved in a significant percentage of copy number variations of the STK11 gene in patients with Peutz-Jeghers syndrome.

Familial cancer - 1 Sept 2015

Borun Pawel, De Rosa Marina, Nedoszytko Boguslaw, Walkowiak Jaroslaw, Plawski Andrzej

Abstract excerpt

Peutz-Jeghers syndrome (PJS) is a rare hereditary syndrome characterized by the occurrence of hamartomatous polyps in the gastrointestinal tract, mucocutaneous pigmentation and increased risk of cancer in multiple internal organs. PJS is preconditioned by the manifestation of mutations in the STK11 gene. The majority of detected STK11 changes are small scale mutations, however recent studies showed the...

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Source

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Identifiers

PMID: 25841653
DOI: 10.1007/s10689-015-9800-5
PMCID: PMC4559094

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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