Germline CDH1 variants and lifetime cancer risk

About The Study: Among families from North America with germline CDH1 P/LP variants, the cumulative risk of gastric cancer was 7% to 10%, which was lower than previously described, and the cumulative risk of breast cancer among female carriers was 37%, which was similar to prior estimates. These findings inform current management of individuals with germline CDH1 variants.

Quote from corresponding author Jeremy L. Davis, M.D.:

“We showed that the lifetime risk of cancer, specifically stomach cancer, in people born with CDH1 gene mutations is lower than we previously thought. This is very important to patients because for over 20 years we have recommended prophylactic stomach removal to eliminate the risk of hereditary gastric cancer. Complete stomach removal is a major operation, and life without a stomach has significant, long-lasting consequences.

“We believe these results will help many people save their stomachs. It is important to note that this research was made possible by a commitment to studying a rare disease and by sharing data across institutions.”

Contact information for Jeremy L. Davis, M.D.: email jeremy.davis@nih.gov.

To access the embargoed study: Visit our For The Media website at this link https://media.jamanetwork.com/ 

(doi:10.1001/jama.2024.10852)

Editor’s Note: Please see the article for additional information, including other authors, author contributions and affiliations, conflict of interest and financial disclosures, and funding and support.

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Media advisory: This study is being presented at the International Gastric Cancer Linkage Consortium.

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