A doctor spoke about the risk of developing breast cancer if you have gene mutations

The most frequent genetic defects in hereditary breast cancer occur in the BRCA1 and BRCA2 genes. Carriers of such mutations do not exceed 10% in the general population. Mostly these mutations are congenital and are inherited in about 50% of cases from mother to daughter or from grandmother to granddaughter, told "Izvestia" on December 17, doctor Yulia Arkhipova, a breast oncologist at the clinic "Crede Experto" on Taganka.

But mutations can also occur in certain human cells during a person's life, she added.

"If we suddenly detect such a mutation in a patient, it does not mean that he will necessarily get breast cancer. But the risk in such a person will be much higher than in other people," the expert noted.

According to her, in the presence of mutations in the BRCA1 gene, breast cancer develops in about 50-60% of cases. With mutations in BRCA2, the risk of the appearance and development of breast cancer is slightly less - about 40-45%.

"Mutations in BRCA2 can also cause pancreatic, prostate and stomach cancers. And ovarian tumor diseases, as in the case of breast cancer, are most often associated precisely with mutations in the BRCA1 gene," she specified.

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Arkhipova emphasized that blood tests for mutations in the BRCA1 and BRCA2 genes are first of all indicated for patients who have a family history of breast cancer, i.e. close relatives. Also, added the doctor, it is necessary to undergo testing for patients who have already had cancer of other localization, such as ovarian or gastric. Testing is also recommended for men if their mother or grandmother had breast cancer.

"I recommend making sure to get genetic testing if you are at risk. This is necessary to plan individualized screening for early diagnosis of possible pathology. Carriers of BRCA1 and BRCA2 mutations have an increased risk of developing not only breast cancer, but also ovarian, pancreatic, gastric and prostate tumors," the expert advised.

Timely detection of the mutation will allow to change the tactics and approach to diagnosis without harming the patient's health, Arkhipova emphasized. For example, instead of mammography, the doctor may prescribe MRI of mammary glands and recommend more frequent ultrasound diagnostics of mammary glands and abdominal organs, men - also prostate gland. The doctor may also recommend more frequent gastroscopy.

In ordinary people, noted Arkhipova, the risk of breast cancer and other types of tumors increases after 50-60 years, and in carriers of mutations in the genes BRCA1 and BRCA2 pronounced symptoms of the disease appear earlier - before 40-45 years.

Earlier, on December 4, medical oncologist of the medical company "SberZdorovye" Suna Isakova told "Izvestia" that malignant neoplasms of the oral cavity and oropharynx are relatively rare - less than 10 cases per 100 thousand people per year. The cause of their development is considered to be tobacco in various forms (chewing, in the form of cigarettes), as well as the use of strong alcohol, infection with human papillomavirus, especially the 16th and 18th types.