Lynch Syndrome - Experiences from Germany

作者：Steinke Verena^*; Propping Peter

来源：Viszeralmedizin, 2011, 27(4): 275-280.

DOI：10.1159/000330596

• Lynch syndrome
• Hereditary nonpolyposis colorectal cancer
• HNPCC
• Colorectal cancer surveillance

Lynch Syndrome - Experiences from Germany Lynch syndrome is an autosomal dominant inherited tumour predisposition syndrome caused by germline mutations in mismatch repair (MMR) genes. Lynch syndrome patients do not only have a high risk for colorectal cancer but also for several other cancer entities, especially endometrial cancer. Approximately one out of 500 individuals is a MMR gene mutation carrier. For more than 10 years, the German HNPCC Consortium has studied this tumour syndrome and established up-to-date Lynch syndrome diagnostics. Furthermore, surveillance strategies for affected patients and their relatives were developed. In Germany, in contrast to other countries, colonoscopies were recommended in annual intervals which have proven to be successful. On a regular basis, the surveillance programme is assessed and, if necessary, adjusted according to new scientific knowledge. For example, an annual endometrial biopsy was included for female Lynch syndrome patients lately. In the future, a risk-adapted surveillance strategy based on prospective surveillance data shall be established.

• 出版日期2011