E-cadherin mutation-based genetic counseling and hereditary diffuse gastric carcinoma
H T Lynch1, W Grady, J F Lynch
1Department of Preventive Medicine and Public Health, Creighton University School of Medicine, Omaha, NE 68178, USA.
Cancer Genetics and Cytogenetics
|December 5, 2000
Summary
The E-cadherin mutation is a strong predictor of hereditary diffuse gastric carcinoma susceptibility. Patient-centered genetic counseling is crucial due to emotional stress and screening limitations.
Area of Science:
- Genetics
- Oncology
- Hereditary Cancer Syndromes
Background:
- E-cadherin mutations are linked to diffuse gastric carcinoma in some families.
- The full penetrance and association with other cancers remain unclear.
- Hereditary diffuse gastric carcinoma necessitates understanding genetic predispositions.
Purpose of the Study:
- To highlight the significance of DNA-based genetic counseling for hereditary diffuse gastric carcinoma.
- To investigate the E-cadherin mutation's role in a family with multiple diffuse gastric carcinoma cases.
Main Methods:
- Genetic analysis of the E-cadherin 70G-->T mutation via DNA sequencing.
- Prospective genetic counseling and testing for 24 at-risk family members.
- Review of medical and pathology records for diagnosis confirmation.
Main Results:
- Nine out of 24 tested family members were positive for the E-cadherin mutation.
- Three mutation-positive individuals were deceased from diffuse gastric carcinoma.
- Patients expressed concerns about insurance discrimination and interest in prophylactic surgery.
Conclusions:
- The E-cadherin mutation is a significant indicator of diffuse gastric carcinoma susceptibility.
- Patient-centered genetic counseling is essential, addressing emotional impact and screening limitations.
- Further research is needed to clarify mutation penetrance and optimize screening strategies.
More Related Videos
Related Concept Videos
01:25Structure of Cadherins
The cadherins were one of the first cell adhesion molecules discovered; the term “cadherins” is based on their calcium-dependent adhering properties. The first cadherins discovered on the epithelial, neuronal, and placental cells were named E-cadherin, P-cadherin, and N-cadherin, respectively. These classical cadherins share sequence and structural similarities. Other cadherins, including those involved in cell signaling, are grouped into non-classical cadherins. This diversity of cadherins...
01:19Cadherins in Tissue Organization
The cadherins are a superfamily of cell adhesion molecules comprising over 180 variants, with specific tissues expressing a particular combination of cadherin types. Cadherins generally exhibit homophilic binding; i.e., cadherins on one cell bind to cadherins of the same or closely related type on another cell. Thus, cells of the same type have a specific affinity to bind to each other and sort themselves into clusters to form tissues.
Cell Sorting During Development
Cell sorting plays an...
Cell Sorting During Development
Cell sorting plays an...