Co-occurrence of germline BRCA1 and CDH1 pathogenic variants

We report the case of a 91-year-old woman diagnosed with breast cancer at the age of 52. She had a family history of breast and gastric cancers. A genetic predisposition to cancer was suspected. Surprisingly, we found not one but two genetic predispositions to cancer in the family, with alterations in both BRCA1 and CDH1 genes, known to cause respectively hereditary breast and ovarian cancers and hereditary diffuse gastric and breast cancers. Life expectancy, absence of ovarian cancer and low penetrance of diffuse gastric cancer in the family are remarkable. However, this complex situation is challenging for diagnosis, genetic counseling and medical management of at-risk individuals. (By Marie-Charlotte Villy, https://jmg.bmj.com/content/early/2020/06/23/jmedgenet-2020-106972 )

(On the top left is Dominique Stoppa-Lyonnet, on the bottom left is Chrystelle Colas, on the top right it is Marie-Charlotte Villy, and on the bottom right is Emmanuelle Fourme)

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