Scientists Discover Thousands of Genetic Variants Linked to Breast and Ovarian Cancer Risk

Scientists Discover Thousands of Genetic Variants Linked to Breast and Ovarian Cancer Risk

Scientists Discover Thousands of Genetic Variants Linked to Breast and Ovarian Cancer Risk

Researchers from the Wellcome Sanger Institute have identified over 3,000 genetic changes in the RAD51C gene that could increase the risk of breast and ovarian cancer. This discovery could lead to better risk assessments and personalized treatments for these cancers.

Key Findings

The study found that these genetic variants could increase the risk of aggressive breast cancer by four times and ovarian cancer by six times. The data was validated using extensive health databases and published in the journal Cell.

Importance of RAD51C Gene

The RAD51C gene is crucial for DNA repair. Variants that disrupt this gene’s function can significantly increase cancer risk. Women with a faulty RAD51C gene have a 15-30% lifetime risk of developing breast cancer and a 10-15% risk of developing ovarian cancer.

New Insights

The study also identified important regions of the RAD51C protein that are essential for its function. These findings could lead to new therapeutic targets and better understanding of cancer development.

Expert Opinions

Rebeca Olvera-Leon, the first author of the study, emphasized that genetic risk for cancer exists on a spectrum. Dr. Andrew Waters highlighted the power of large-scale genetic analysis for clinical decisions. Dr. David Adams noted the potential for this approach to be used in personalized medicine. Professor Clare Turnbull mentioned that the new data would help diagnostic labs better understand RAD51C gene changes, aiding in decisions about extra screening and preventive surgery.

Impact on Cancer Statistics

Breast cancer is the most common cancer in the UK, with around 56,800 new cases annually. Ovarian cancer is the sixth most common, with around 7,500 new cases each year. This research could significantly impact how these cancers are diagnosed and treated in the future.

Doubts Revealed


Genetic Variants -: Genetic variants are small changes or differences in our DNA. They can sometimes affect how our body works.

Breast and Ovarian Cancer -: These are types of cancers that start in the breast or ovaries. Cancer happens when cells grow uncontrollably.

Wellcome Sanger Institute -: This is a big research center in the UK where scientists study genes and diseases.

RAD51C gene -: This is a specific part of our DNA that helps fix damaged DNA. If it doesn’t work right, it can lead to cancer.

Cell -: Cell is a famous science journal where important research studies are published.

Risk Assessments -: These are tests or evaluations to see how likely someone is to get a disease.

Personalized Treatments -: These are medical treatments that are specially designed for an individual based on their unique genetic makeup.

DNA Repair -: This is a process where our cells fix any damage in our DNA to keep us healthy.

Therapeutic Targets -: These are specific parts of the body or disease that doctors aim to treat with medicine.

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