A snapshot of current genetic testing practice in Lynch syndrome: The results of a representative survey of 33 Latin American existing centers/registries

Mev Dominguez-Valentin in collaboration with LA-GETH

Department of Tumour Biology, Institute for Cancer Research, Oslo University Hospital, Oslo, Norway



We aimed to assess the current genetics practice to manage Lynch syndrome (LS) patients across Latin America. A Latin American LS survey was sent out to 52 centers/registries, comprising a total of 12 countries from the region. Overall, 33 centers completed the survey, of which the oldest LS registry was established in 1992 in Sao Paulo (Brazil), and the youngest this year in San Jose (Costa Rica). In total, 87% (26/30) of the participating centers/registries belonging to the nine countries are performing genetic testing. Overall, 1352 suspected families were sequenced. Pathogenic variants were identified in 34% of the families, with slightly differing distribution of variants between females and males. Path_MLH1 variants were identified in 39% of females and 50% of males (p=0.023), while path_MSH2 were identified in 37% of females and males, followed by path_PMS2 in 11% of females and 8% of males, path_MSH6 in 13% of females and 3% of males (p<0.001), and path_EPCAM in 0.3% of females and 2% of males.  In Latin America, 9 out of 12 (75%) participating countries had implemented health care for LS. LS screening is inconsistently applied within Latin America healthcare systems, due to structural differences in the health care systems between the countries.