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Hereditary Diffuse Gastric Cancer-Update Based on the Current Consort Recommendations.

Christoph Treese¹, Britta Siegmund¹, Severin Daum¹

¹Department for Medicine (Gastroenterology, Infectious Diseases, Rheumatology), Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, 12203 Berlin, Germany.

Current Oncology (Toronto, Ont.)

|April 21, 2022

Summary

Hereditary diffuse gastric cancer (HDGC) is linked to CDH1 gene mutations, increasing risk for gastric and breast cancers. Updated guidelines offer new classifications and management strategies for hereditary cancer syndromes.

Keywords:

CDH1 mutation CTNNA1 mutation familial intestinal gastric cancer hereditary diffuse gastric cancer hereditary diffuse gastric cancer-like hereditary lobular breast cancer prophylactic gastrectomy screening endoscopy

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Published on: January 22, 2018

Area of Science:

Oncology
Genetics
Gastroenterology

Background:

Hereditary diffuse gastric cancer (HDGC) is an autosomal dominant syndrome linked to CDH1 and CTNNA1 gene mutations.
HDGC presents with specific gastric histology (multifocal signet ring cells) and increased risk of lobular breast cancer.
Current management involves prophylactic gastrectomy or surveillance for CDH1 mutation carriers, alongside breast cancer screening.

Purpose of the Study:

To summarize key aspects of hereditary gastric cancer.
To present the updated clinical criteria and recommendations from the International Gastric Cancer Linkage Consortium (IGCLC) published in 2020.
To define new clinical groups: hereditary lobular breast cancer (HLBC) and HDGC-like.

Main Methods:

Review of existing literature on hereditary gastric cancer.
Analysis of the 2020 IGCLC updated guidelines and recommendations.
Categorization of hereditary cancer syndromes based on genetic findings and clinical presentation.

Main Results:

Identification of CDH1 and CTNNA1 as primary genes associated with HDGC.
Establishment of new clinical groups: HLBC for CDH1 mutations exclusively causing lobular breast cancer, and HDGC-like for clinically suspected familial HDGC without a identified mutation.
Reinforcement of prophylactic gastrectomy and surveillance strategies for mutation carriers.

Conclusions:

The 2020 IGCLC update provides refined classifications for hereditary gastric and breast cancer syndromes.
Accurate diagnosis and adherence to updated recommendations are crucial for managing patients at high risk.
Further research may elucidate the genetic basis of HDGC-like cases.