CDH1 相关的眼睑唇齿综合征与弥漫性胃癌风险相关。
CDH1-related blepharocheilodontic syndrome is associated with diffuse gastric cancer risk.
机构信息
Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, Adelaide, South Australia, Australia.
Adult Genetics Unit, Royal Adelaide Hospital, Adelaide, South Australia, Australia.
出版信息
Am J Med Genet A. 2020 Jul;182(7):1780-1784. doi: 10.1002/ajmg.a.61601. Epub 2020 Apr 17.
We report the first case of diffuse gastric cancer in an individual with familial blepharocheilodontic syndrome (BCD) due to a germline CDH1 likely pathogenic variant. To date, other BCD affected relatives are nonpenetrant for diffuse gastric cancer posing challenges to counseling regarding gastric and breast cancer surveillance, and preventative total gastrectomy.
我们报告了首例家族性眼睑-唇齿综合征（BCD）患者罹患弥漫性胃癌，该患者携带 CDH1 种系可能致病性变异。迄今为止，其他 BCD 受累亲属未发生弥漫性胃癌，这给胃癌和乳腺癌筛查以及预防性全胃切除术的咨询带来了挑战。
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