Research Discovery: Understanding Breast Cancer Risk With New Insights From Genetics

3 days ago | Jasmine Souers | @jasminesouers

Breast cancer risk varies from person to person, especially for those with inherited genetic mutations (changes in DNA passed down from parents). Recent research has revealed how certain genetic variants (differences in DNA sequences) influence a person’s lifetime risk of developing breast cancer. These findings help refine screening and treatment strategies.

The study compared genetic data from:

32,247 women with breast cancer (to identify common mutations).
32,544 women without breast cancer (to compare mutation rates in the general population).

Key Findings

Genetic variants studied: Researchers analyzed pathogenic variants (gene changes that increase disease risk) in 28cancer-related genes. They focused on well-known breast cancer risk genes like:
- Ataxia Telangiectasia Mutated (ATM)
- Breast Cancer Gene 1 (BRCA1)
- Breast Cancer Gene 2 (BRCA2)

These genes play a major role in repairing DNA and preventing cancer. When they are mutated, the risk of breast cancer increases. They also found that other genes such as BARD1 (BRCA1 Associated RING Domain 1), RAD51C (RAD51 Recombinase C), and RAD51D (RAD51 Recombinase D), are linked to a higher risk of a specific type of breast cancer called ER-negative breast cancer (a type that doesn’t have estrogen receptors).

Risk Estimates: The study measured how often these genetic mutations occur and calculated the lifetime breast cancer risk for individuals carrying them.

Community Impact

This research provides a clearer understanding of how genetics influence breast cancer risk, which can:

Improve Screening: Doctors can create personalized screening schedules for people at higher genetic risk.
Enhance Management: Women with inherited mutations can receive personalized prevention and treatment plans based on their risk level.

By identifying genetic risk factors, healthcare providers can help women make informed health decisions, such as considering preventive treatments or earlier screenings. This research empowers women and their families with knowledge to take proactive steps toward prevention and early detection. This study highlights the importance of genetic research in improving health outcomes for individuals and communities.

Researchers: F. Couch, Ph.D.; C. Vachon, Ph.D.; J. Olson, Ph.D. Read more