The BRCA genes, BReast CAncer 1 and 2 – what are they, and when should they be investigated?
In 1928, Karl Heinrich Bauer suggested that it's not cancer itself but a predisposition to it that is inherited... The BRCA genes, BReast CAncer 1 and 2, are present in everyone's genome, but not everyone has mutations in these genes. How to understand when it is necessary to identify a mutation in them?
Firstly, if you belong to a high-risk group, namely:
- If the diagnosis of breast cancer is established at an early age.
- In the family, there is more than one case of breast cancer or ovarian cancer before the age of 50.
- Breast cancer is detected in a man.
- In the family, there are more than three cases of breast cancer or ovarian cancer at any age.
- Cancer in both breasts.
If the analysis confirms a mutation, don't panic! It doesn't mean you will definitely have this disease. BRCA1 and 2 account for 20% of hereditary cancers, while other genes (TP53, PTEN, STK11, PALB2, etc.) are responsible for 80% of hereditary cancers. You won't be testing for all of them... These decisions are solely addressed by an oncologist!
But for those with a confirmed mutation, a specific screening is recommended by an oncologist:
- Monthly self-examination of the breast.
- Annual examination by a mammologist with ultrasound monitoring.
- Breast MRI every year starting at the age of 30.
- Digital mammography. (Don't be afraid of this examination – the radiation dose is minimal. It's much smaller than the exposure during a flight on an airplane.)
And one more thing! A mutation in these genes not only indicates a predisposition to breast cancer but often accompanies ovarian cancer, fallopian tube cancer, pancreatic cancer, prostate cancer, primary peritoneal cancer, breast cancer in men, and there are even data on melanoma. So, stay vigilant!
Author: Doctor Obstetrician-Gynecologist Natalia Valeriivna Furdas
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