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

CDH1-related blepharocheilodontic syndrome is associated with diffuse gastric cancer risk.

American journal of medical genetics. Part A - 1 Jul 2020

LeBlanc Shannon, Naveen Dildeepa, Haan Eric, Barnett Christopher, Rawlings Lesley, Roscioli Tony, Poplawski Nicola

Abstract excerpt

We report the first case of diffuse gastric cancer in an individual with familial blepharocheilodontic syndrome (BCD) due to a germline CDH1 likely pathogenic variant. To date, other BCD affected relatives are nonpenetrant for diffuse gastric cancer posing challenges to counseling regarding gastric and breast cancer surveillance, and preventative total gastrectomy.

Read the complete abstract on PubMed

Topics

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

Share to Cadherins
Share to Antigens, CD
Share to Cleft Lip

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cleft Palate

Share to Gastrectomy

Share to Genetic Counseling

Share to Stomach Neoplasms

Share to Tooth Abnormalities

Source

Identifiers

PMID: 32302040
DOI: 10.1002/ajmg.a.61601

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

CDH1-related blepharocheilodontic syndrome is associated with diffuse gastric cancer risk.PMID 32302040Read ↗

CDH1 Gene and Hereditary Diffuse Gastric Cancer Syndrome: Molecular and Histological Alterations and Implications for Diagnosis And TreatmentSemantic proximity Read ↗

Hereditary Diffuse Gastric Cancer Syndrome and the Role of CDH1: A Review.Semantic proximity Read ↗

Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond.Semantic proximity Read ↗

Therapeutic and prophylactic gastrectomy in a family with hereditary diffuse gastric cancer secondary to a CDH1 mutation: a case series.Semantic proximity Read ↗

E-cadherin alterations in hereditary disorders with emphasis on hereditary diffuse gastric cancer.Semantic proximity Read ↗

Unexpected CDH1 Mutations Identified on Multigene Panels Pose Clinical Management ChallengesSemantic proximity Read ↗

Hereditary Gastric and Breast Cancer Syndromes Related to CDH1 Germline Mutation: A Multidisciplinary Clinical ReviewSemantic proximity Read ↗

Hereditary Diffuse Gastric Cancer: Approaches to Screening, Surveillance, and Treatment.Semantic proximity Read ↗

CDH1 germline mutations and the hereditary diffuse gastric and lobular breast cancer syndrome: a multicentre study.Semantic proximity Read ↗

The Recurrent E-Cadherin (CDH1) Mutation c.760G>A Causes Orofacial Clefts but Does Not Predispose to Hereditary Cancer.Semantic proximity Read ↗

Germline variants and phenotypic spectrum in a Canadian cohort of individuals with diffuse gastric cancer.Semantic proximity Read ↗

Hereditary Diffuse Gastric Cancer: One Familyʼs StorySemantic proximity Read ↗

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