Advances in the recognition and management of hereditary cancer

Introduction: Constitutional mutations in genes controlling DNA repair, cell-cycle regulation and cell apoptosis can determine an individual's tendency to develop cancer. Hereditary cancer predisposition syndromes present with multiple cancers at a young age and underlie a significant burden of morbidity and mortality. Recent advances in the recognition and management of hereditary cancer will be illustrated with specific examples of developments in diagnosis and treatment.

Sources of data: Key recent published literature.

Areas of agreement: The identification of individuals with hereditary cancer offers important opportunities for cancer prevention, early intervention and personalized management.

Areas of controversy: Individuals at risk of hereditary cancer remain under-recognized. There is a need to develop evidence-based guidelines for the recognition and management of hereditary cancer predisposition conditions.

Growing points: The study of Mendelian cancer susceptibility syndromes has added to our understanding of hereditary and sporadic cancers and facilitated the development of targeted agents directed against cancer-driving mutations. Increasingly, cancer patients with constitutional gene mutations treated with targeted therapies have improved clinical outcomes.

Areas for timely research: Building the infrastructure to enable constitutional gene mutation testing to become integrated into routine cancer care, including the parallel development of robust referral pathways alongside genomic sequencing technologies.