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EndoTODAY 내시경 교실

[가족성 위암. Familial gastric cancer] -

1. Introduction

Hereditary Diffuse Gastric Cancer (HDGC) is a cancer syndrome characterised by a high prevalence of diffuse gastric cancer (DGC) and lobular breast cancer (LBC). First described in an extended New Zealand M?ori family in 1998, HDGC is now estimated to have a population incidence of approximately 5-10/100,000 births. The majority of confirmed HDGC cases are caused by inactivating germline mutations in the CDH1 tumour suppressor gene. CDH1 encodes E-cadherin, a transmembrane protein that is localised to the adherens junctions in epithelial tissues and has cell-cell adhesion, tension sensing, and signal transduction functions. Mutations in a second adherens junction protein, a-catenin (CTNNA1), are also found in a small minority of HDGC cases. (Lancet Oncology 2020)

2. 2020 HDGC genetic testing criteria

CDH1 testing is recommended when one of the following criteria have been met and following confirmation of cancer diagnoses. When a criterion involves two or more cancers, a minimum of one should have confirmed histology. Where possible, other relevant cancers should also be confirmed. Histologically-confirmed intestinal-type gastric cancer and non-LBC cases should not be used to fulfil testing criteria as these are not part of HDGC. Individuals who fulfil criteria for genetic testing but are found to be negative for a CDH1 variant should be subsequently tested for CTNNA1. (Lancet Oncology 2020)


1) 유전성 위암 조수정 (PDF)

© 일원내시경교실 바른내시경연구소 이준행. EndoTODAY Endoscopy Learning Center. Lee Jun Haeng.