A groundbreaking study conducted by researchers at the Wellcome Sanger Institute, published in the journal Cell, reveals significant findings regarding the RAD51C gene and its link to breast and ovarian cancers.

The research identified over 3,000 harmful genetic changes in the RAD51C gene, which can increase the risk of ovarian cancer by six-fold and aggressive breast cancer subtypes by four-fold.

Among the findings, researchers highlighted the presence of 'hypomorphic alleles,' which diminish RAD51C function without completely disabling it, contributing to a more nuanced understanding of genetic risk.

Looking ahead, the research team plans to extend their variant classification technique to other genes, contributing to a comprehensive understanding of the human genome's role in cancer risk and prevention.

Additionally, the study revealed critical surface areas of the RAD51C protein essential for DNA repair, suggesting potential new targets for drug development.

Breast cancer remains the most common cancer in the UK, with approximately 56,800 new cases annually, while ovarian cancer accounts for around 7,500 new cases each year.

Variants in the RAD51C gene impair its ability to repair DNA, which can lead to increased cancer risk as well as severe genetic disorders like Fanconi anemia under certain conditions.

The study utilized large-scale health databases, including the UK Biobank and a cohort of over 8,000 ovarian cancer patients, to confirm the association between RAD51C variants and cancer diagnoses.

These findings are expected to enhance personalized medicine and cancer prevention strategies by improving risk prediction and therapeutic targeting.

The outcomes of this research will assist diagnostic laboratories in identifying harmful RAD51C gene changes, thereby facilitating better cancer screening and preventive measures.

The study aims to improve risk assessment and personalized care for individuals with a family history of these cancers, addressing uncertainties in genetic testing outcomes.

Key researchers emphasized the importance of understanding how genetic variants impact cancer risk, which could inform clinical decisions and the development of targeted therapies.