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

Development of esophageal squamous cell cancer in patients with FAMMM syndrome: Two clinical reports.

European journal of medical genetics - 1 Mar 2020

van der Wilk Berend J, Noordman Bo J, Atmodimedjo Peggy N, Dinjens Winand N M, Laheij Robert J F, Wagner Anja, Wijnhoven Bas P L, van Lanschot J Jan B

Abstract excerpt

Familial atypical multiple mole melanoma (FAMMM) syndrome is a hereditary syndrome characterized by multiple dysplastic nevi and melanoma. Patients with FAMMM may have a heterozygous, inactivating, pathogenic germline variant in the CDKN2A gene, especially the NM_000077.4: c.225_243del19 (p.p75fs) variant, also known as p16-Leiden variant. Patients with this variant are at high risk for developing melanomas and...

Read the complete abstract on PubMed

Topics

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

Share to Cyclin-Dependent Kinase Inhibitor p16
Share to Dysplastic Nevus Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Esophageal Neoplasms

Share to Esophageal Squamous Cell Carcinoma

Share to Germ-Line Mutation

Share to Heterozygote

Share to Pedigree

Share to Skin Neoplasms

Source

Identifiers

PMID: 31923587
DOI: 10.1016/j.ejmg.2020.103840

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

Development of esophageal squamous cell cancer in patients with FAMMM syndrome: Two clinical reports.PMID 31923587Read ↗

FAMMM syndrome: pathogenesis and management.Semantic proximity Read ↗

Familial atypical multiple mole melanoma (FAMMM) syndrome: history, genetics, and heterogeneity.Semantic proximity Read ↗

Risk of developing pancreatic cancer in families with familial atypical multiple mole melanoma associated with a specific 19 deletion of p16 p16LeidenSemantic proximity Read ↗

Risk of developing pancreatic cancer in families with familial atypical multiple mole melanoma associated with a specific 19 deletion ofp16 (p16-Leiden)Semantic proximity Read ↗

Risk of developing pancreatic cancer in families with familial atypical multiple mole melanoma associated with a specific 19 deletion of p16 (p16-Leiden).Semantic proximity Read ↗

CDKN2A mutations with p14 loss predisposing to multiple nerve sheath tumours, melanoma, dysplastic naevi and internal malignancies: a case series and review of the literature.Semantic proximity Read ↗

CDKN2A Gene Mutations: Implications for Hereditary Cancer SyndromesSemantic proximity Read ↗

Novel presentation of a familial pancreatic cancer syndrome.Semantic proximity Read ↗

Characterization of the neoplastic phenotype in the familial atypical multiple-mole melanoma-pancreatic carcinoma syndrome.Semantic proximity Read ↗

Phenotypic variation in eight extended CDKN2A germline mutation familial atypical multiple mole melanoma-pancreatic carcinoma-prone families: the familial atypical mole melanoma-pancreatic carcinoma syndrome.Semantic proximity Read ↗

CDKN2 explains part of the clinical phenotype in Dutch familial atypical multiple-mole melanoma (FAMMM) syndrome families.Semantic proximity Read ↗

An interstitial deletion within 9p21.3 and extending beyond CDKN2A predisposes to melanoma, neural system tumours and possible haematological malignanciesSemantic proximity Read ↗

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