@article {Benusiglio486, author = {Patrick R Benusiglio and David Malka and Etienne Rouleau and Antoine De Pauw and Bruno Buecher and Catherine Nogu{\`e}s and Emmanuelle Fourme and Chrystelle Colas and Florence Coulet and Mathilde Warcoin and Sophie Grandjouan and Alain Sezeur and Pierre Laurent-Puig and Diane Moli{\`e}re and Camille Tlemsani and Marina Di Maria and Veronique Byrde and Suzette Delaloge and Martine Blayau and Olivier Caron}, editor = {Demange, Liliane}, title = {CDH1 germline mutations and the hereditary diffuse gastric and lobular breast cancer syndrome: a multicentre study}, volume = {50}, number = {7}, pages = {486--489}, year = {2013}, doi = {10.1136/jmedgenet-2012-101472}, publisher = {BMJ Publishing Group Ltd}, abstract = {Introduction CDH1 predisposes primarily to diffuse gastric cancer (DGC). Multiple DGC cases in a family, DGC at a young age in an individual or the combination of DGC andlobular breast cancer (LBC) in an individual or a family define the hereditary DGC syndrome (HDGC), and testing for germline CDH1 mutations is warranted in HDGC. Methods and results We report all index cases from Ile-de-France in which a germline CDH1 mutation has been identified. Out of 18 cases, 7 do not fulfil the HDGC-defining criteria. Three of them are women who presented initially with bilateral LBC below age 50, without personal or family history of DGC, and who subsequently developed symptomatic DGC. Discussion Our series of CDH1 mutation carriers is the largest to date and demonstrates that LBC might be the first manifestation of HDGC. A personal or family history of multiple LBCs at a young age, even without DGC, should prompt CDH1 mutation screening. It is paramount to identify mutation carriers early, so that they can benefit from prophylactic gastrectomy before they develop symptomatic, highly lethal DGC. We recommend a revision of the HDGC-defining criteria and propose for consideration the name {\textquoteleft}Hereditary Diffuse Gastric and Lobular Breast Cancer{\textquoteright} instead of HDGC.}, issn = {0022-2593}, URL = {https://jmg.bmj.com/content/50/7/486}, eprint = {https://jmg.bmj.com/content/50/7/486.full.pdf}, journal = {Journal of Medical Genetics} }