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BRCA1 and BRCA2 gene mutation – treatment and prophylaxis

What are BRCA1 and BRCA2 genes?

Mutations in the BRCA1 and BRCA2 genes lead to excessive cell division. The cell growth may result in the development of breast cancer or ovarian cancer. Mutations in the BRCA1 and BRCA2 gene indicate inherited breast cancer predisposition.

Testing for mutations in the BRCA1 and BRCA2 gene

Genetic testing for BRCA mutations is available and includes collection of a blood sample at the health care centre / hospital and sending the sample to a licenced laboratory. Genetic testing is available for women with numerous breast and/or ovarian cancer cases in their family or with a family history of cases of breast and/or ovarian cases in women aged below 40.

The decision on genetic testing should be well-thought-out after consultation with a specialist. BRCA gene mutations detected in genetic tests may cause a serious psychological burden to the patient, which may manifest into cancer phobia, i.e. paralysing fear of cancer.

Testing for BRCA1 and BRCA2 gene mutations is free-of-charge, if the woman belongs to the risk group. Those who do not have any breast or ovarian cancer cases in the family must pay for the tests. Genetic testing is not an urgent procedure. If the results of genetic tests are positive, as a precautionary measure, it is recommended to perform genetic tests for close relatives of the person.

Testing for BRCA1 and/or BRCA2 gene mutations are recommended for women whose families:

  • have had cases of breast and/or ovarian cancer in close relatives (e.g. mother, sister, grandmother, daughter);
  • have had breast cancer cases in young people (below age 40);
  • have had cases of bilateral breast cancer;
  • have a case of breast cancer in a man;
  • have had a case of triple-negative breast cancer in women before menopause;
  • were positive for BRCA1 and/or BRCA2 gene mutations.
  • Detection of BRCA1 and/or BRCA2 gene mutations – what next?

    The patients who tested positive are referred to specialist oncological outpatient clinics where they undergo more frequent examinations to detect cancer at the earliest possible stage. Such checks include frequent breast ultrasounds, mammography, and short-term treatment with tamoxifen. Some women are recommended to undergo prophylactic mastectomy or oophorectomy. However, it should be borne in mind that preventive surgery does not completely eliminate the risk of breast cancer.

    What prophylaxis is recommended for women who are carriers of mutations in BRCA1 and/or BRCA2 gene?

    Mutations in the BRCA gene do not imply that the candidate will develop breast cancer. Absence of BRCA mutations also does not guarantee that a given person will not develop breast cancer in their lifetime. As mutations in the BRCA1 and/or BRCA2 gene increase the risk of developing cancer, screening for these mutations is primarily aimed at increasing vigilance and to perform frequent screening tests, such as breast ultrasound, mammography or MRI.

    The cancer risk is determined by:

  • genetic factors;
  • age of first full-term pregnancy and the duration of breastfeeding;
  • use of oral contraceptives and hormone replacement therapy;
  • lifestyle, physical activity, low body weight.
  • Main prophylactic recommendations for the high risk group*:

  • regular monthly observation of the breasts;
  • monthly breast self-examination by palpation;
  • breast examination by a gynaecologist every 6 months;
  • MRI every 6 months in patients aged below 30. If the results are ambiguous, imaging examination (mammography) is recommended;
  • in women above 30 years of age, mammography should be performed every 6 months, alternately with MRI and breast ultrasound should be repeated every 12 months as a supplementary examination;
  • from the age of 35, a gynaecological examination should be performed every 6 months, along with vaginal ultrasound and blood testing for CA 125 marker (the examination should best be performed between day 5 and 10 of menstrual cycle);
  • gynaecological examination every 12 months;
  • cytological examination every 3 years.
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    * Krzakowski M., Warzocha K., Onkologia w Praktyce Klinicznej. Zalecenia postępowania diagnostyczno-terapeutycznego w nowotworach złośliwych [Oncology in Clinical Practice. Recommendations for diagnostic procedure and treatment of malignant tumors], Volume I, Via Medica, Gdańsk, 2013, p. 216–218.

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