Exploring the Mechanisms of Hereditary Cancer Predisposition

Hereditary cancer predisposition syndromes are important for cancer development, and studies have shown that germline pathogenic variants (GPVs) in cancer-predisposing genes are more common than originally thought. It has been discovered that many GPVs occur in patients with cancer types that have no known association with the affected gene. This could mean that the tumours have developed independently of the underlying pathogenic germline allele or represent rare gene-tumour-type associations. It is important to distinguish between these scenarios for individual and familial cancer risk counselling and therapeutic management.