{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,5]],"date-time":"2026-02-05T10:45:06Z","timestamp":1770288306112,"version":"3.49.0"},"reference-count":24,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2020,9,4]],"date-time":"2020-09-04T00:00:00Z","timestamp":1599177600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Germline mutations in E\u2010cadherin (<jats:italic>CDH1<\/jats:italic>) gene are associated with autosomal\u2010dominantly inherited cancer syndrome characterized by diffuse gastric cancer, lobular breast cancer, and in some families, cleft lip\/palate. However, there may be generations in which these neoplasms do not occur at all in a family and later on, one or another carcinoma arises, which makes it difficult for physicians to think about hereditary origin.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We report the first Mexican family with <jats:italic>CDH1<\/jats:italic> mutation (variant c.377del).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>An asymptomatic young woman underwent a search for mutations in susceptibility genes for breast cancer due to the history of this neoplasm in her mother and maternal aunt. A <jats:italic>CDH1<\/jats:italic> mutation was detected. After an endoscopy, a diffuse gastric carcinoma was found. Later on, three generations of this family were studied. The findings are presented.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Medical communities should be aware of the contribution of this gene in the development of hereditary diffuse gastric carcinoma (HDGC) and breast cancer.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1208","type":"journal-article","created":{"date-parts":[[2020,9,4]],"date-time":"2020-09-04T17:08:40Z","timestamp":1599239320000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["First report of a Mexican family with mutation in the <i>CDH1<\/i> gene"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1784-9986","authenticated-orcid":false,"given":"Carmen","family":"Mart\u00ednez Valenzuela","sequence":"first","affiliation":[{"name":"Unidad de Investigaci\u00f3n en ambiente y salud Universidad Aut\u00f3noma de Occidente Los Mochis Sinaloa M\u00e9xico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Edmundo Erbey","family":"Castel\u00e1n\u2010Maldonado","sequence":"additional","affiliation":[{"name":"Hospital de Especialidades UMAE 25 Instituto Mexicano del Seguro Social Monterrey NL M\u00e9xico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Octavio","family":"Carvajal\u2010Zarrabal","sequence":"additional","affiliation":[{"name":"Facultad de Medicina Veracruz M\u00e9xico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2652-3825","authenticated-orcid":false,"given":"Ana Laura","family":"Calder\u00f3n\u2010Garcidue\u00f1as","sequence":"additional","affiliation":[{"name":"Facultad de Medicina Veracruz M\u00e9xico"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,9,4]]},"reference":[{"key":"e_1_2_5_2_1","first-page":"4614","article-title":"Prevention of breast cancer in the rat with 9\u2010cis\u2010retinoic acid as a single agent and in combination with tamoxifen","volume":"54","author":"Anzano M. A.","year":"1994","journal-title":"Cancer Research"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.201411080"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2012.44.4612"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet\u20102018\u2010105337"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.074237"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jclinpath\u20102013\u2010201768"},{"key":"e_1_2_5_8_1","first-page":"9","article-title":"E\u2010cadherin expression in sporadic gastric cancer from Mexico: Exon 8 and 9 deletions are infrequent events associated with poor survival","volume":"36","author":"Gamboa\u2010Dominguez A.","year":"2015","journal-title":"Human Pathology"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12957\u2010018\u20101415\u20105"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gie.2018.02.008"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaoncol.2014.168"},{"key":"e_1_2_5_12_1","first-page":"287","article-title":"Familial gastric cancer. NZ","volume":"63","author":"Jones E. G.","year":"1964","journal-title":"Med. J."},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4612-4092-1"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9440(10)65129-2"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ijc.10176"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1186\/s40169\u2010018\u20100184\u20107"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet\u20102018\u2010105361"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yexcr.2009.02.020"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10689\u2010018\u20100111\u20105"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1055\/a\u20100646\u20104382"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1097\/SLA.0000000000002030"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1177\/2050640618811504"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet\u20102015\u2010103094"},{"key":"e_1_2_5_24_1","doi-asserted-by":"publisher","DOI":"10.1097\/DCR.0000000000001322"},{"key":"e_1_2_5_25_1","doi-asserted-by":"publisher","DOI":"10.21147\/j.issn.1000\u20109604.2018.01.13"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1208","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.1208","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1208","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,21]],"date-time":"2024-02-21T11:57:27Z","timestamp":1708516647000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.1208"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,9,4]]},"references-count":24,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2020,11]]}},"alternative-id":["10.1002\/mgg3.1208"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.1208","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,9,4]]},"assertion":[{"value":"2019-10-28","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-02-21","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-09-04","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e1208"}}