In the early stages, hereditary breast cancer is asymptomatic. Sometimes, the first signs are pain in the mammary glands (in the presence of mastopathy) and intense pain during menstruation. As a rule, a tumor is detected before a detailed clinical picture emerges. It is possible to detect the node on its own (accidental or in the process of self-examination), as well as suspicion of cancer during the next examination.
With the progression of hereditary breast cancer, there are excreta from the nipple. The axillary lymph nodes on the side of the lesion increase. The skin above the tumor becomes wrinkled, umbilicalization and a positive “site symptom” are detected. Subsequently, there is a progressive deformation of the organ and a symptom of “lemon peel”. It is possible to ulceration. In the late stages of hereditary breast cancer, the manifestations of primary neoplasia are joined by dysfunction of various organs due to remote metastasis, and general symptoms of cancer: appetite disorders, weight loss, hyperthermia.
There are differences in the course of hereditary breast cancer caused by different genetic mutations. The neoplasms detected in women carriers of the BRCA1 gene are characterized by a high degree of malignancy. The cancer associated with mutations of BRCA2 is more favorable in comparison with sporadic cases. A distinctive feature of all forms of hereditary breast cancer is the high probability of counter-lateral lesions and tumor recurrence in the same breast after organ-preserving operations. For comparison: the average frequency of local recurrence of neoplasia in sporadic cancer is 1-1.5% during a year. In hereditary breast cancer, counter-lateral neoplasms are detected in 42% of patients, ipsilateral – in 49% of patients.
The diagnosis is made taking into account the family history, the results of molecular genetic tests and data from additional examinations. Genetic analysis is carried out after identification of family and anamnesis signs of hereditary breast cancer (presence of disease in close relatives, early onset, high frequency of bilateral lesions).
If the test result is positive, mammography with tomosynthesis is regularly prescribed. When the node is formed, breast ultrasound, ductography, MRI and other diagnostic procedures are performed. If there is suspicion of the presence of remote metastases, chest X-ray, scintigraphy of the entire skeleton, ultrasound of the liver, MRI of the brain and other tests are performed.
Treatment of hereditary breast cancer
Traditionally, standard schemes have been used for hereditary breast cancer with a higher probability of recurrence. However, in recent years, there are increasing references in the literature to the need for special treatment programs tailored to the sensitivity of hereditary breast cancer associated with various genetic anomalies. Thus, patients with BRCA1 defect are not recommended to prescribe drugs from taxan group due to low efficiency. In hereditary breast cancer with mutation BRCA2 successfully used cisplatin – a drug that is not part of the standard treatment of breast cancer, but successfully used in the treatment of tumors of other localizations. To reduce the frequency of relapse, even in the initial stages, radical mastectomy is performed, not organ-preserving operations.
Measures to prevent and detect hereditary breast cancer in a timely manner include elimination of bad habits, regular self-examinations and specialist examinations. Mammography is the main instrumental technique used in preventive examinations, but in recent years, if possible, it has been increasingly replaced by NMR, which excludes radiation exposure of the patient. If there is a high risk of development of hereditary breast cancer (more than 25%), preventive bilateral mastectomy is performed, sometimes – in combination with oophorectomy.