De novo CDH1 mutation in a family presenting with early-onset diffuse gastric cancer

被引：18

作者：

Shah, M. A. ^{[1
]}

Salo-Mullen, E. ^{[2
]}

Stadler, Z. ^{[2
]}

Ruggeri, J. M. ^{[3
]}

Mirander, M.

Pristyazhnyuk, Y.

Zhang, L. ^{[3
]}

机构：

[1] New York Hosp, Weill Cornell Med Coll, Div Hematol & Med Oncol, Gastrointestinal Oncol Serv,Mem Sloan Kettering C, New York, NY 10021 USA

[2] Weill Cornell Med Coll, Mem Sloan Kettering Canc Ctr, Clin Genet Serv, Dept Med, New York, NY USA

[3] Weill Cornell Med Coll, Mem Sloan Kettering Canc Ctr, Diagnost Mol Genet Lab, Dept Pathol, New York, NY USA

来源：

CLINICAL GENETICS | 2012年 / 82卷 / 03期

关键词：

CDH1; early-onset; E-cadherin; diffuse gastric cancer; hereditary; E-CADHERIN MUTATIONS; GERMLINE MUTATIONS; MALIGNANCIES; GUIDELINES; MANAGEMENT; CARRIERS;

D O I：

10.1111/j.1399-0004.2011.01744.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

In this report, we describe the first concluded case of a de novo germline mutation in CDH1 in a hereditary diffuse gastric cancer (HDGC) kindred. The incident case was a woman with a personal history of Hodgkin's lymphoma and diffuse gastric cancer, who was then confirmed to have a CDH1 mutation (c.1792 C>T (R598X)). The patient's mother was found to have the same CDH1 germline mutation; however, neither maternal grandparent was found to carry the mutation, thus leading to a conclusion that the proband's mother's mutation is of de novo origin. This case highlights the importance of recognition of the HDGC syndrome and of testing for CDH1 germline mutations in young individuals with diffuse gastric cancer without a family history of the disease.

引用

页码：283 / 287

页数：5