Cellular Oncology

, Volume 36, Issue 3, pp 225–231 | Cite as

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

  • Lei Fu
  • Jian-qiu Sheng
  • Xiao-ou Li
  • Peng Jin
  • Hong Mu
  • Min Han
  • Ji-sheng Huang
  • Zi-qin Sun
  • Ai-qin Li
  • Zi-tao Wu
  • Shi-rong Li
Original Paper



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.


Lynch syndrome Mismatch Repair Gene Cumulative Risk Colonoscopy 


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Copyright information

© International Society for Cellular Oncology 2013

Authors and Affiliations

  • Lei Fu
    • 1
  • Jian-qiu Sheng
    • 2
  • Xiao-ou Li
    • 3
  • Peng Jin
    • 2
  • Hong Mu
    • 4
  • Min Han
    • 5
  • Ji-sheng Huang
    • 5
  • Zi-qin Sun
    • 6
  • Ai-qin Li
    • 2
  • Zi-tao Wu
    • 2
  • Shi-rong Li
    • 2
  1. 1.Department of GastroenterologyThird Military Medical University and General Hospital of Beijing Military RegionChongqingChina
  2. 2.Department of GastroenterologyGeneral Hospital of Beijing Military RegionBeijingChina
  3. 3.Department of General Surgery306 Hospital of PLABeijingChina
  4. 4.Department of Gastroenterology253 Hospital of PLAHohhotChina
  5. 5.Shangqiu People’s HospitalShangqiuChina
  6. 6.Department of GastroenterologyGeneral Hospital of Jinan Military RegionJinanChina

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