Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Two cases of somatic STK11 mosaicism in Danish patients with Peutz-Jeghers syndrome.

Familial cancer - 1 Jan 2021

Jelsig Anne Marie, Bertelsen Birgitte, Forss Isabel, Karstensen John Gásdal

Abstract excerpt

Peutz-Jeghers syndrome (PJS) is a hereditary polyposis syndrome characterized by hamartomatous Peutz-Jeghers polyps in the gastrointestinal tract, mucocutaneous pigmentations, and increased risk for intestinal and extraintestinal cancer. In more than two-third of patients it is possible to detect pathogenic variants in the serine/threonine kinase 11 (STK11) gene, but so far is knowledge about genetic causes in...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to AMP-Activated Protein Kinase Kinases
Share to Denmark
Share to High-Throughput Nucleotide Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mosaicism

Share to Peutz-Jeghers Syndrome

Share to Phenotype

Share to Protein Serine-Threonine Kinases

Share to Young Adult

Source

Identifiers

PMID: 32504210
DOI: 10.1007/s10689-020-00191-4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Two cases of somatic STK11 mosaicism in Danish patients with Peutz-Jeghers syndrome.PMID 32504210Read ↗

Disease pattern in Danish patients with Peutz-Jeghers syndrome.Semantic proximity Read ↗

A novel missense mutation of the STK11 gene in a Chinese family with Peutz-Jeghers syndrome.Semantic proximity Read ↗

First report of somatic mosaicism for mutations in STK11 in four patients with Peutz-Jeghers syndrome.Semantic proximity Read ↗

Different phenotypes including gynecological cancer in three female patients with Peutz-Jeghers syndrome and mutations in the STK11 gene.Semantic proximity Read ↗

Progress report: Peutz-Jeghers syndrome.Semantic proximity Read ↗

An exploration of genotype-phenotype link between Peutz-Jeghers syndrome and STK11: a review.Semantic proximity Read ↗

Lung cancer as a predominant feature in a patient with Peutz-Jeghers syndrome: Case report.Semantic proximity Read ↗

Survival, surveillance, and genetics in patients with Peutz-Jeghers syndrome: A nationwide study.Semantic proximity Read ↗

Close and regular surveillance is key to prevent severe complications for Peutz-Jeghers syndrome patients without gastrointestinal polyps: case report of a novel STK11 mutation (c.471_472delCT) in a Chinese girl.Semantic proximity Read ↗

Large deletions and splicing-site mutations in the STK11 gene in Peutz-Jeghers Chilean families.Semantic proximity Read ↗

Clinical and Molecular Analysis in Patients with Peutz-Jeghers Syndrome.Semantic proximity Read ↗

Low-level parental mosaicism in an apparent de novo case of Peutz-Jeghers syndrome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.