National Registry of Cancer-Predisposing Gene Mutations

Building a Lifelong Genetic Picture: The National Cancer Predisposition Registry

Data4medics has established a groundbreaking national registry designed to capture the complete picture of individuals living with any inherited mutation known to predispose to cancer. This ambitious longitudinal project, built on a robust platform, aims to collate data on every individual diagnosed with a pathogenic or likely pathogenic variant in a cancer susceptibility gene, regardless of their current age or clinical status, from birth throughout their entire lifespan.

The core mission is to understand the real-world implications of these mutations across the population and over time. Unlike registries focused solely on specific genes (such as BRCA) or patients with already diagnosed cancer, this initiative casts the widest possible net. It includes:

• Infants and Children: Diagnosed with mutations linked to pediatric cancers (e.g., TP53, RB1) or syndromes with childhood manifestations.

• Asymptomatic Adults: Individuals identified through genetic testing (e.g., due to family history) who carry mutations (e.g., in BRCA1/2, Lynch syndrome genes, ATM, CHEK2) but have not developed cancer.

• Cancer Survivors: Those whose cancer was caused by an underlying inherited mutation.

• Individuals Across the Cancer Spectrum: Carrying mutations predisposing to diverse cancers (breast, ovarian, colorectal, pancreatic, melanoma, sarcoma, etc.).

The registry systematically collects detailed longitudinal data. This includes baseline genetic testing results (gene, specific variant, classification), comprehensive personal and family cancer histories, demographic information, and crucially, lifelong clinical follow-up.

By creating this centralised, long-term repository for all carriers of cancer-predisposing mutations, the registry provides an unprecedented resource. It will enable researchers and clinicians to accurately define age-related cancer risks (penetrance), identify modifying factors, evaluate the effectiveness of risk management strategies across different ages and genes, understand the full phenotypic spectrum of syndromes, and ultimately, refine personalised prevention and care for carriers throughout their lives. This infrastructure is foundational for decades of discovery in hereditary cancer.