Clinical features and cancer risk in families with pathogenic <i>CDH1</i> variants irrespective of clinical criteria

Rosa M. Xicola, Shuwei Li, Nicolette J. Rodriguez, Patrick Reinecke, Rachid Karam, Virginia Speare, Mary Helen Black, Holly LaDuca, Xavier Llor

Journal of Medical Genetics · 2019 · 116 citations · 18 references

DOIFull text

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Abstract

In unselected <i>CDH1</i> pathogenic variant carrier families, gastric cancer risks were lower and age at diagnosis higher than previously reported in families pre-selected for HDGC criteria. A substantial proportion of families did not present with any gastric cancers and their cancers were limited to breast. Thus, clinical criteria for <i>CDH1</i> testing should be widened, including breast cancer families only, and a consideration for delayed prophylactic gastrectomy/surveillance should be evaluated.

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