2016
DOI: 10.1002/mgg3.197
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Panel testing reveals nonsense and missense CDH1 mutations in families without hereditary diffuse gastric cancer

Abstract: BackgroundThe reported penetrance of germline CDH1 mutations is high in families with hereditary diffuse gastric cancer (HDGC). Men and women have a 70% and 56%, respectively, cumulative risk of developing diffuse gastric cancer by age 80. Women additionally have a 42% cumulative risk of developing breast cancer. Due to the high penetrance of these mutations, prophylactic total gastrectomy is currently recommended for CDH1 mutation carriers. However, whether everyone with a CDH1 gene mutation is at risk for HD… Show more

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Cited by 26 publications
(26 citation statements)
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“…Clinical manifestations, (a family history, the presence of potential risk factors of GC, patient age, a macroscopic tumour image), and the histological type of cancer may help to determine those patients who might need future treatment because of their genetic predisposition to GC. Finally, as aforementioned in detail, the two principal subtypes of GC with MSI-H and CDH1 mutation evolve through different pathways, and those differences in molecular pathogenesis translate into a morphological distinction, which merits our attention [48,49].…”
Section: Discussionmentioning
confidence: 97%
“…Clinical manifestations, (a family history, the presence of potential risk factors of GC, patient age, a macroscopic tumour image), and the histological type of cancer may help to determine those patients who might need future treatment because of their genetic predisposition to GC. Finally, as aforementioned in detail, the two principal subtypes of GC with MSI-H and CDH1 mutation evolve through different pathways, and those differences in molecular pathogenesis translate into a morphological distinction, which merits our attention [48,49].…”
Section: Discussionmentioning
confidence: 97%
“…CDH1 variants have also been reported in nonsyndromic CLP (NSCLP) without cancer, as well as in families with both NSCLP and HDGC (Benusiglio et al, 2013;Brito et al, 2015;Frebourg et al, 2006;Huynh & Laukaitis, 2016;Kluijt et al, 2012;Vogelaar et al, 2013).…”
Section: Blepharocheilodontic Syndrome and Diffuse Gastric Cancer Riskmentioning
confidence: 99%
“…Independent of epidemiologic trends is a population of patients with hereditary gastric cancer syndromes (24,25). Recent improvement in molecular genetics has refined our understanding of the mutations causing hereditary gastric cancer (26). Since these patients are most often asymptomatic, guidelines for surveillance, indications for intervention, and long-term quality of life studies are in the medical literature (27).…”
Section: Hereditary Gastric Cancermentioning
confidence: 99%