Optimising clinical care through CDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines
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DOI: 10.1136/jmg-2022-108807
Abstract: Background Germline pathogenic variants in CDH1 are associated with increased risk of diffuse gastric cancer and lobular breast cancer. Risk reduction strategies include consideration of prophylactic surgery, thereby making accurate interpretation of germline CDH1 variants… read more here.
Keywords: cdh1 variant; cdh1 specific; germline; variant curation ... See more keywords