Abstract
Germline CDH1 mutations were first identified in 1998 in families with a strong history of early-onset gastric cancer. Now, 25 years on, it appears that CDH1 pathogenic variants are associated with a significantly increased risk for only two cancer types, diffuse gastric cancer and lobular breast cancer. Only the diffuse type of gastric cancer is associated with germline CDH1 variants, hence the syndrome was named hereditary diffuse gastric cancer. Lobular breast cancer most commonly appears in the context of classical hereditary diffuse gastric cancer syndrome, segregating with gastric cancer in the family. However, in recent years pathogenic CDH1 variants have been identified in individuals or families with lobular breast cancer without any gastric cancer in the family, leading to a new entity being defined: ‘hereditary lobular breast cancer’. Recent studies, as well as the International Gastric Cancer Linkage Consortium, remark on the importance of distinguishing between these two syndromes because it is likely the penetrance risks differ and this has clinical implications.
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Blair, V., Girardi, A., Corso, G. (2023). Hereditary Lobular Breast Cancer: A Newly Defined Syndrome. In: Corso, G., Veronesi, P., Roviello, F. (eds) Hereditary Gastric and Breast Cancer Syndrome. Springer, Cham. https://doi.org/10.1007/978-3-031-21317-5_3
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