Mutations in the BRCA gene

What is being analysed here?

Variants or mutations in the BRCA1 and BRCA2 genes are being analysed. These genes produce proteins that repair DNA, and specific changes can significantly increase cancer risk.

What does the result mean?

Detecting a harmful variant in BRCA1 or BRCA2 substantially raises the risk of developing various cancers, especially breast and ovarian cancer.

Why is this analysis carried out?

Identifying mutations in BRCA1 and BRCA2 helps assess personal cancer risk. It allows for preventive measures and closer monitoring.

When should the analysis be done?

Consider genetic testing if you have a family history of breast or ovarian cancer. It is also relevant for individuals with a personal cancer history.

What sample is required?

A blood or saliva sample is collected for genetic analysis.

Is any special preparation needed?

No specific preparation is required.

How is the information used?

Results guide decisions on surveillance and prevention. They can inform treatment options if cancer has already developed. Normal values indicate that no harmful variants have been detected in BRCA1 or BRCA2, while altered values indicate the presence of mutations, significantly increasing cancer risk.