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

Molecular and clinical characteristics in 46 families affected with Peutz-Jeghers syndrome.

Digestive diseases and sciences - 1 Aug 2007

Mehenni Hamid, Resta Nicoletta, Guanti Ginevra, Mota-Vieira Louisa, Lerner Aaron, Peyman Mohammed, Chong Kim A, Aissa Larbi, Ince Ali, Cosme Angel, Costanza Michael C, Rossier Colette, Radhakrishna Uppala, Burt Randall W, Picard Didier

Abstract excerpt

Germline mutations of the tumor suppressor gene LKB1/STK11 are responsible for the Peutz-Jeghers syndrome (PJS), an autosomal-dominant disorder characterized by mucocutaneous pigmentation, hamartomatous polyps, and an increased risk of associated malignancies. In this study, we assessed the presence of pathogenic mutations in the LKB1/STK11 gene in 46 unrelated PJS families, and also carried genotype-phenotype...

Read the complete abstract on PubMed

Topics

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

Share to Adenocarcinoma
Share to AMP-Activated Protein Kinase Kinases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Bile Duct Neoplasms

Share to Chromosome Deletion

Share to Gene Rearrangement

Share to Peutz-Jeghers Syndrome

Share to Polymorphism, Single-Stranded Conformational

Share to Protein Serine-Threonine Kinases

Source

Identifiers

PMID: 17404884
DOI: 10.1007/s10620-006-9435-3

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Molecular and clinical characteristics in 46 families affected with Peutz-Jeghers syndrome.PMID 17404884Read ↗

Germline and somatic mutations of the STK11/LKB1 Peutz-Jeghers gene in pancreatic and biliary cancers.Semantic proximity Read ↗

Further observations on LKB1/STK11 status and cancer risk in Peutz-Jeghers syndrome.Semantic proximity Read ↗

Analysis of STK11 gene variant in five Chinese patients with Peutz-Jeghers syndrome.Semantic proximity Read ↗

Peutz-Jeghers families unlinked to STK11/LKB1 gene mutations are highly predisposed to primitive biliary adenocarcinoma.Semantic proximity Read ↗

Two novel mutations and a new STK11/LKB1 gene isoform in Peutz-Jeghers patients.Semantic proximity Read ↗

Mutation analysis of the STK11/LKB1 gene and clinical characteristics of an Australian series of Peutz-Jeghers syndrome patients.Semantic proximity Read ↗

Novel mutations in the LKB1/STK11 gene in Dutch Peutz-Jeghers families.Semantic proximity Read ↗

High prevalence of germline STK11 mutations in Hungarian Peutz-Jeghers Syndrome patients.Semantic proximity Read ↗

Two novel STK11 mutations in three Chinese families with Peutz-Jeghers syndrome.Semantic proximity Read ↗

STK11/LKB1 germline mutations are not identified in most Peutz-Jeghers syndrome patients.Semantic proximity Read ↗

STK11/LKB1 germline mutations in the first Peutz-Jeghers syndrome patients identified in Slovakia.Semantic proximity Read ↗

Somatic mutations in the Peutz-Jeghers (LKB1/STKII) gene in sporadic malignant melanomas.Semantic proximity Read ↗

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