Precise, Genotype-First Breast Cancer Prevention: Experience With Transferring Monogenic Findings From a Population...

Area of Science:

• Genomics
• Oncology
• Preventive Medicine

Background:

• Hereditary breast cancer screening identifies only a fraction of genetic predispositions.
• Current clinical screening criteria exclude many individuals with genetic risk.
• Population biobanks offer a resource for identifying genetic predispositions.

Purpose of the Study:

• To assess the prevalence of genetic predisposition for breast cancer in the Estonian population.
• To evaluate the clinical utility of personalized prevention based on genetic risk.
• To explore the integration of genetic risk information into routine medical practice.

Main Methods:

• A national pilot study involving 180 female participants from the Estonian biobank.
• Re-contacting participants to discuss personalized clinical prevention based on 11 breast cancer-related genes.
• Analyzing genetic risk variants and their association with early-onset breast cancer.

Main Results:

• Genetic risk variants for breast cancer are common in the average-risk Estonian population.
• 75% of breast cancer cases in at-risk subjects occurred before age 50.
• Only one-third of participants met current clinical screening eligibility criteria.
• Participants found receiving genetic risk information valuable.

Conclusions:

• Genotype-first breast cancer studies utilizing biobank data are effective for precise prevention.
• Personalized prevention strategies based on genetic predisposition are well-accepted and feasible.
• Efficient integration of research findings into clinical practice is achievable through robust data management and collaboration.