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- W2071444240 abstract "Hereditary Diffuse Gastric Cancer is an autosomal dominant inherited gastric cancer syndrome caused by germline alterations in CDH1 (E-cadherin) and CTNNA1 (alpha-E-catenin) genes. Germline CDH1 alterations encompass small frameshifts, splice-site, nonsense, and missense mutations, as well as large rearrangements. Most CDH1 truncating mutations are pathogenic, and several missense CDH1 mutations have a deleterious effect on E-cadherin function. CDH1 testing should be performed in probands. Screening of at-risk individuals is indicated from the age of consent following counselling with a multidisciplinary team. In mutation-positive individuals prophylactic gastrectomy is recommended. Endoscopic surveillance is an option for those refusing/postponing gastrectomy, those with mutations of undetermined significance, and in CDH1-negative families. Ongoing research focus on the search of genetic causes other than CDH1 or CTNNA1 germline defects; assessment of the pathogenicity and penetrance of CDH1 missense mutations and identification of somatic mechanisms behind the progression from early (indolent) lesions to invasive (lethal) carcinomas." @default.
- W2071444240 created "2016-06-24" @default.
- W2071444240 creator A5026242093 @default.
- W2071444240 creator A5038760927 @default.
- W2071444240 creator A5061604560 @default.
- W2071444240 creator A5064854472 @default.
- W2071444240 date "2014-12-01" @default.
- W2071444240 modified "2023-10-10" @default.
- W2071444240 title "Hereditary diffuse gastric cancer – Pathophysiology and clinical management" @default.
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- W2071444240 doi "https://doi.org/10.1016/j.bpg.2014.09.007" @default.
- W2071444240 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/25439071" @default.
- W2071444240 hasPublicationYear "2014" @default.
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