{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T10:01:42Z","timestamp":1753869702908,"version":"3.41.2"},"reference-count":25,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2024,7,26]],"date-time":"2024-07-26T00:00:00Z","timestamp":1721952000000},"content-version":"vor","delay-in-days":25,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2024,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Hereditary diffuse gastric cancer (HDGC) (OMIM# 137215) is an autosomal dominant cancer syndrome associated with <jats:italic>CDH1<\/jats:italic> (OMIM# 192090) mutations. Prophylactic total gastrectomy (PTG) is the most recommended preventive treatment when a pathogenic mutation is found. However, the increasing use of genetic testing has led to the identification of incidental <jats:italic>CDH1<\/jats:italic> mutations in individuals without a family history of gastric cancer. It remains unclear whether these patients should undergo prophylactic total gastrectomy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Germline DNA, obtained from peripheral blood, was analysed by NGS.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A 47\u2010year\u2010old woman was diagnosed with high\u2010grade serous ovarian carcinoma, FIGO stage IIIC, with a Homologous Recombination Deficiency (HRD) GIS status of 78 (positive, cut\u2010off: 43). She received chemotherapy and niraparib treatment. A multigene panel test revealed no pathogenic mutations in <jats:italic>BRCA1<\/jats:italic> (OMIM# 113705)<jats:italic>\/BRCA2<\/jats:italic> (OMIM# 600185) genes, but a de novo deletion of exon 16 in <jats:italic>CDH1<\/jats:italic> was found incidentally. She had no previous family history of gastric or breast cancer. The patient was enrolled in a surveillance program involving periodic endoscopy and was diagnosed with diffuse gastric cancer through biopsies of a pale area in the antrum after 1 year of close endoscopic follow\u2010up.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This case presents supportive evidence for the pathogenic classification of the loss of the last exon of <jats:italic>CDH1<\/jats:italic>.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2496","type":"journal-article","created":{"date-parts":[[2024,7,26]],"date-time":"2024-07-26T10:38:53Z","timestamp":1721990333000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical approach for managing patients with unexpected <i>CDH1<\/i> mutations: A case report"],"prefix":"10.1002","volume":"12","author":[{"given":"Yago","family":"Garitaonaindia","sequence":"first","affiliation":[{"name":"Medical Oncology Department Puerta de Hierro University Hospital  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miriam","family":"M\u00e9ndez","sequence":"additional","affiliation":[{"name":"Medical Oncology Department Puerta de Hierro University Hospital  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F\u00e1tima","family":"Valent\u00edn","sequence":"additional","affiliation":[{"name":"Gastroenterology and Hepatology Department Endoscopy Unit Puerta de Hierro University Hospital  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lourdes","family":"Guti\u00e9rrez","sequence":"additional","affiliation":[{"name":"Medical Oncology Department Puerta de Hierro University Hospital  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alberto Herreros","family":"de Tejada","sequence":"additional","affiliation":[{"name":"Gastroenterology and Hepatology Department Endoscopy Unit Puerta de Hierro University Hospital  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio","family":"S\u00e1nchez\u00a0Ruiz","sequence":"additional","affiliation":[{"name":"Medical Oncology Department Puerta de Hierro University Hospital  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariano","family":"Provencio","sequence":"additional","affiliation":[{"name":"Medical Oncology Department Puerta de Hierro University Hospital  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1634-7397","authenticated-orcid":false,"given":"Atocha","family":"Romero","sequence":"additional","affiliation":[{"name":"Medical Oncology Department Puerta de Hierro University Hospital  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,7,26]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1470-2045(23)00057-8"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1470-2045(20)30219-9"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.074237"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamasurg.2020.6155"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1470-2045(22)00643-X"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaoncol.2014.168"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1245\/s10434-022-12829-x"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM200106213442504"},{"issue":"4","key":"e_1_2_10_10_1","article-title":"A novel de novo CDH1 germline variant aids in the classification of carboxy\u2010terminal E\u2010cadherin alterations predicted to escape nonsense\u2010mediated mRNA decay","volume":"4","author":"Krempely K.","year":"2018","journal-title":"Cold Spring Harbor Molecular Case Studies"},{"issue":"6","key":"e_1_2_10_11_1","article-title":"Newly diagnosed and relapsed epithelial ovarian carcinoma: ESMO clinical practice guidelines for diagnosis, treatment and follow\u2010up","volume":"24","author":"Ledermann J. 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