Genetic mutations and breast cancer: when prevention can save lives

Genetic mutations can significantly increase the risk of developing certain cancers, particularly breast and ovarian cancer. In recent years, research has made it possible to better understand the role of certain genes—especially BRCA1 and BRCA2—opening up new possibilities for prevention and risk management.

Dr. Valeria Vitale, a breast surgeon at the Sant’Andrea University Hospital in Rome, provides clarity. She deals daily with the diagnosis, prevention, and treatment of breast diseases. 

«Genetic mutations increase the risk of breast and ovarian cancer because they alter the function of genes that repair DNA, such as BRCA1 and BRCA2», explains the doctor.

When these genes do not function properly, DNA damage is no longer effectively repaired, and cells can begin to replicate uncontrollably. «In this way, they can turn into cancer cells», she adds.

Genetic risk: numbers and meaning

Mutations in the BRCA genes significantly increase the likelihood of developing certain cancers.

The figures, according to the doctor, are clear: «A BRCA1 mutation carries a breast cancer risk of up to 70–72%, and ovarian cancer around 40–44%».

In the case of BRCA2, the numbers are slightly different but still significant: «The risk of breast cancer in women with BRCA2 is about 45–69%, while for ovarian cancer it is around 17%».

These mutations do not only affect women: the BRCA2 gene is also associated with breast cancer in men.

Preventive mastectomy: how much it reduces risk

For people with high-risk genetic mutations, there is a surgical preventive strategy: prophylactic mastectomy, also known as risk-reducing surgery.

«Preventive mastectomy can reduce risk by up to 90%», reports Dr. Vitale.

The procedure involves the removal of the breast gland with immediate reconstruction. However, the risk is not completely eliminated.

«It is not reduced to zero because some breast cells may still remain in the body».

This is due to the anatomy of the breast gland itself, which extends from the clavicle down to the rectus abdominis muscle.

Risks and psychological impact of the procedure

From a medical standpoint, complications are similar to those of any surgical procedure.

«Complications may include infections, bleeding, or skin issues, but it is not a surgery associated with particularly high complication rates», adds Dr. Vitale. The real issue, however, is often something else: the emotional impact.

«These are women who, at the time of surgery, do not have cancer. The psychological impact is therefore very significant», she emphasises. For this reason, the decision is always made within a multidisciplinary pathway involving various specialists.

Quality of life: a complex choice

Undergoing a preventive mastectomy means facing important changes in daily life: «There is a loss of sensitivity in the operated area, which can have both psychological and sexual implications», Vitale adds.

For this reason, psychological support is an integral part of the decision-making process. «A multidisciplinary meeting always includes a surgeon, oncologist, geneticist, and psychologist».

Mastectomy, however, is not the only available option. There are other strategies to manage genetic risk.

One is intensive radiological surveillance. «These women must undergo annual mammography, ultrasound twice a year, and annual MRI».

This strategy does not reduce the risk of developing cancer but allows it to be detected at an early stage. Another possibility is pharmacological prevention, which is still under study. «Drugs such as low-dose tamoxifen are being studied to evaluate whether they can reduce risk».

The decisive role of genetic counseling

The starting point of the entire process is oncogenetic counselling. «The role of oncogenetic counselling is fundamental». Specialists analyse family history and build a sort of genetic profile, estimating risk probability.

Only when this risk exceeds a certain threshold is genetic testing proposed, which simply involves a blood sample. «The test itself is simple, but one must understand what it means to know the result».

While in the past a genetic mutation was perceived as an inevitable sentence, today the perspective is different. «With prevention strategies, especially surgical ones, we can significantly reduce the risk of developing cancer», concludes Dr. Vitale.