Is There a Hereditary Cancer Resistance Genotype?
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Most of the knowledge about germline related cancer risks emerged from pioneering studies of families with increased cancer incidence. This led to the discovery of the chapter of hereditary cancer predisposing syndromes. More than 50 syndromes have been identified and thoroughly studied. While most germline studies focused on pathogenic variants that increase cancer risk (e.g. BRCA1/2, CHEK2 with ORs up to 8.6), little research has been dedicated to the opposite situation, that is germline mutations or variants that decrease the risk of cancer. The methods employed in these cancer risk reduction studies were not centered on family history of cancer but rather on genome wide association studies (GWAS). A body of knowledge has been accumulating in this regard slowly but steadily. The aim of this review is to summarize the main genetic features that can reduce the risk of develop cancer in general and in some specific cancers as well.