Association of pathogenic variants in hereditary cancer genes with multiple diseases

Knowledge about the spectrum of diseases associated with hereditary cancer syndromes may improve disease diagnosis and management for patients and help to identify high-risk individuals. A phenome-wide association study using genetic and phenotypic data from three cohorts comprising 214,020 participants identified 19 new diseases and conditionsassociated with pathogenic variants in 13 hereditary cancer genes. These new phenotypes included both neoplastic and nonneoplastic diseases.