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Background  Lynch Syndrome is an autosomal dominant cancer syndrome caused by pathogenic germ-line variants in one of the DNA-mismatch-repair (MMR) genes  MLH1, MSH2, MSH6  or  PMS2 . Carriers are predisposed to colorectal and endometrial cancer, but also other cancer types. The purpose of this retrospective study was to characterize the tumour spectrum of the Swedish Lynch syndrome families.    Methods  Data were obtained from genetically verified 235 Lynch families from five of the six health care regions in Sweden. The material was stratified for gender, primary cancer, age and mutated gene and the relative proportions of specific cancer types were compared to those in the general population.    Results  A total of 1053 family members had 1493 cancer diagnoses of which 1011 were colorectal or endometrial cancer. Individuals with pathogenic variants in  MLH1  and  MSH2  comprised 78% of the cohort. Among the 482 non-colorectal/non-endometrial cancer diagnoses,  MSH2  carriers demonstrated a significantly increased proportion of urinary tract, gastric, small bowel, ovarian and non-melanoma skin cancer compared to the normal population.  MLH1  carriers had an elevated proportion of gastrointestinal cancers (gastric, small bowel, pancreas), while  MSH6  carriers had more ovarian cancer than expected. Gastric cancer was predominantly noted in older generations.    Conclusion  Lynch syndrome confers an increased risk for multiple cancers other than colorectal and endometrial cancer. The proportions of other cancers vary between different MMR genes, with highest frequency in  MSH2 -carriers. Gender and age also affect the tumour spectrum, demonstrating the importance of additional environmental and constitutional parameters in determining the predisposition for different cancer types.

A retrospective study of extracolonic, non-endometrial cancer in Swedish Lynch syndrome families