Hereditary diffuse gastric adenocarcinoma
- Synonyms
- Hereditary diffuse gastric cancer
- Modes of inheritance
- Autosomal dominant inheritance (Orphanet)
Summary
Excerpted from the GeneReview:Hereditary diffuse gastric cancer (HDGC) is an autosomal dominant susceptibility for diffuse gastric cancer, a poorly differentiated adenocarcinoma that infiltrates into the stomach wall causing thickening of the wall (linitis plastica) without forming a distinct mass. Diffuse gastric cancer is also referred to as signet ring carcinoma or isolated cell-type carcinoma. The average age of onset of HDGC is 38 years (range: 14-69 years). The majority of the cancers in individuals with a CDH1 pathogenic variant occur before age 40 years. The estimated cumulative risk of gastric cancer by age 80 years is 70% for men and 56% for women. Women are also at a 42% risk for lobular breast cancer.
- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Pardeep Kaurah
- David G Huntsman
- view full author information
Available tests
179 tests are in the database for this condition.
Check Related conditions for additional relevant tests.
Clinical features
Help- Abnormality of head or neck
- Cleft palate
Cleft palate
- MedGen UID: 756015
- Concept ID: C2981150
- Finding: Congenital Abnormality
Abnormality of head or neck
- Cleft upper lip
Cleft upper lip
- MedGen UID: 40327
- Concept ID: C0008924
- Finding: Congenital Abnormality
Abnormality of head or neck
- Cleft palate
- Abnormality of the digestive system
- Atrophic gastritis
Atrophic gastritis
- MedGen UID: 42157
- Concept ID: C0017154
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Gastric cancer
Gastric cancer
- MedGen UID: 44264
- Concept ID: C0024623
- Finding: Neoplastic Process
Abnormality of the digestive system
- Atrophic gastritis
- NCI PDQ, Breast and Gynecologic CancersGenetics of Breast and Gynecologic Cancers (PDQ®): Health Professional Version
- NCI PDQ, Cancer Genetics CounselingCancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version
- NCCN, 2023NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Gastric Cancer, 2023
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