کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
3988399 1601470 2007 7 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Characterization of the P373L E-cadherin germline missense mutation and implication for clinical management
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی تومور شناسی
پیش نمایش صفحه اول مقاله
Characterization of the P373L E-cadherin germline missense mutation and implication for clinical management
چکیده انگلیسی

AimHereditary diffuse gastric cancer (HDGC) is a cancer susceptibility syndrome caused by E-cadherin germline mutations. One-third of these mutations are of the missense type, representing a burden in genetic counselling. A new germline missense mutation (P373L) was recently identified in a HDGC Italian family. The present work aimed at addressing the disease-causative nature of the P373L mutant.MethodsAssessment of the P373L mutation effect was based on cell aggregation and invasion assays. LOH analysis at the E-cadherin locus, search for somatic E-cadherin mutations and for promoter hypermethylation were performed to identify the mechanism of inactivation of the E-cadherin wild-type allele in the tumour.ResultsIn vitro the P373L germline mutation impaired the E-cadherin functions. E-cadherin promoter hypermethylation was observed in the tumour of the P373L mutation carrier.ConclusionWe conclude that the combination of clinical, in vitro and molecular genetic data is helpful for establishing an accurate analysis of HDGC-associated CDH1 germline missense mutations and subsequently for appropriate clinical management of asymptomatic mutation carriers.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: European Journal of Surgical Oncology (EJSO) - Volume 33, Issue 9, November 2007, Pages 1061–1067
نویسندگان
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