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Cellular Oncology : Volume 36, Issue 2, April 2013

Cellular Oncology : Volume 36, Issue 1, February 2013

Cellular Oncology : Volume 35

Cellular Oncology : Volume 34

Mismatch repair gene mutation analysis and colonoscopy surveillance in Chinese lynch syndrome families

Content Provider	Springer Nature Link
Author	Fu, Lei Sheng, Jian qiu Li, Xiao ou Jin, Peng Mu, Hong Han, Min Huang, Ji sheng Sun, Zi qin Li, Ai qin Wu, Zi tao Li, Shi rong
Copyright Year	2013
Abstract	Lynch syndrome (or HNPCC) is a colorectal cancer syndrome caused by germline mutations in either one of the DNA mismatch repair (MMR) genes hMLH1, hMSH2, hMSH6 or hPMS2. Mutations in hMLH1 and hMSH2 are most prevalent. Here we aimed to determine the cancer risk of MMR gene mutation carriers and, in addition, the efficacy of colonoscopy surveillance in Chinese Lynch syndrome family members with and without MMR gene mutations.A Lynch syndrome family registry encompassing 106 families in Northern China was recently established. Detailed pedigree data for each family were collected and hMLH1 and hMSH2 gene mutation analyses were performed. Germ-line mutations were identified in probands from 42 of these families, and additional genetic analyses were performed in each member of these 42 families to identify mutation and non-mutation carriers. Among the family members included, 180 received colonoscopy and the remaining cases were followed without colonoscopy.Overall 54.8 % of the Lynch syndrome family members carried MMR gene mutations, and these mutation carriers exhibited significantly higher colorectal cancer and other Lynch syndrome-associated cancer risks as compared to non-mutation carriers. The cumulative risk for all Lynch syndrome-related cancers at age 70 was 93.8 % for both hMLH1 and hMSH2 mutation carriers, and 81.7 % and 93.1 % for colorectal cancer at this age, respectively. Whereas 43 of 102 (42.2 %) mutation carriers exhibited significant colonoscopy findings, including 10 colorectal cancers, none of 78 non-mutation carriers exhibited significant findings, and no cancers were detected. In addition, in the mutation carriers, colonoscopy surveillance led to the detection of more early stage cancers than in the non-surveillance group (70.0 % versus 36.5 %, p < 0.01).In Lynch syndrome family members, we recommend pre-symptomatic MMR gene mutation analysis in order to identify high risk individuals for colonoscopy surveillance.
Starting Page	225
Ending Page	231
Page Count	7
File Format	PDF
ISSN	22113428
Journal	Cellular Oncology
Volume Number	36
Issue Number	3
e-ISSN	22113436
Language	English
Publisher	Springer Netherlands
Publisher Date	2013-05-03
Publisher Institution	International Society for Cellular Oncology
Publisher Place	Dordrecht
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Lynch syndrome Mismatch Repair Gene Cumulative Risk Colonoscopy Cancer Research Biomedicine general Pathology Oncology
Content Type	Text
Resource Type	Article
Subject	Cancer Research Molecular Medicine Oncology

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