N88: The National Lynch Syndrome Registry of Finland (LSRFi)

T. Seppälä, K. Pylvänäinen, J. P. Mecklin

 

The nationwide Lynch Syndrome Registry of Finland (LSRFi) was founded in 1982 to organize endoscopic surveillance for high-risk families with colorectal cancer (CRC). To date, there are 298 families with confirmed pathogenic variants of mismatch repair (MMR) genes. Currently, LSRFi organises genetic counseling and predictive testing in research setting and co-ordinates endoscopic surveillance that takes place mostly in centralized public hospitals. Colonoscopy surveillance is offered from 25 years onwards, with 3-year interval for those with no prior cancer. LSRFi has access to national healthcare registries, such as registry for causes of death, parish registries and Finnish cancer registry.

 

About 3,000 individuals have undergone genetic testing, so far. In May 2018, there were total of 1,416 path_MMR carriers; 1,044 path_MLH1 (74%), 246 path_MSH2 (17%), 123 path_MSH6 (9%) and 3 path_PMS2 (0.2%). The mean age for live carriers was 53 years for path_MLH1, 53 years for path_MSH2, 60 years for path_MSH6 and 48 years for path_PMS2. In 2015, about two thirds of eligible children (age >18 years) of verified path_MMR carriers had undergone predictive testing. Adherence to offered surveillance is high, well over 90%. CRC incidence, stage and survival do not differ from other countries compared to independent prospective datasets in Europe.

 

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