Mutations in the DNA mismatch repair gene MLH1 associated with early-onset colon cancer

被引：13

作者：

Marcos, Irene

Borrego, Salud

Urioste, Miguel

Garcia-Valles, Carmen

Antinolo, Guillermo

机构：

[1] Hosp Univ Virgen Rocio, Unidad Clin Genet & Reprod, Seville 41013, Spain

[2] Ctr Nacl Invest Oncol, Dept Genet Humana, Madrid, Spain

[3] Hosp Univ Virgen Rocio, Serv Cirugia Pediat, Seville, Spain

来源：

JOURNAL OF PEDIATRICS | 2006年 / 148卷 / 06期

关键词：

D O I：

10.1016/j.jpeds.2006.01.009

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Hereditary nonpolyposis colon cancer (HNPCC) is an autosomal dominant disorder characterized by the predisposition to develop a number of cancers, especially colorectal cancer (CRC). We present a HNPCC family with CRC at age 12 years. Our observations suggest that the germline mutation of the both copies of the MLH1 gene may play a role in the early onset of CRC.

引用

页码：837 / 839

页数：3

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