What clinical management options are available to BRCA carriers?

Posted in BRCA; Posted 7 months ago by Andreas Obermair

Everyone carries BRCA1 and BRCA2 genes. However, in some people, the BRCA gene is mutated (changed), which means that the gene does not work properly any longer. Normally, BRCA genes prevent cancer by detecting abnormalities in our DNA; and consequently eliminating these. Individuals who inherit BRCA gene mutations carry non-functioning BRCA genes and therefore are at an increased risk of developing certain cancers, such as breast and ovarian cancer, compared with the general population.

BRCA1 and BRCA2 mutations are associated with about 5–10% of all breast cancers. Cancer Council Australia reports BRCA1 mutations are estimated to increase your risk by 47% and BRCA2 mutations increase the risk of breast cancer by 32% both by the age of 75 years. Compare this to the general population where women have a risk of developing breast cancer of 13% by the age of 85 years.

Mutations in the BRCA1 or BRCA2 gene are responsible for most cases of hereditary ovarian cancer (up to 20% of all ovarian cancers).  People who inherit a faulty BRCA1 gene have an increased 44% risk of developing ovarian cancer, and those with a faulty BRCA2 gene have approximately an 18% risk of developing ovarian cancer in their lifetime. Ovarian Cancer Australia reports in the general population (with normal BRCA genes) the risk of a woman developing ovarian cancer is very low at about 2%.

While these statistics may seem worrying, if people know they have a faulty BRCA gene, then it is possible to benefit from measures for prevention and early detection of these cancers. Currently, genetic testing is very accurate to detect BRCA mutations and is recommended in people with a high risk of carrying BRCA, which often are patients diagnosed with breast or ovarian cancer or people with a family history of BRCA or related cancers.

Clinical management options for individuals who carry BRCA mutations aim to reduce their cancer risk or detect cancer at an early stage. Here are some key clinical management options available to BRCA carriers for ovarian and breast cancer.

Increased Surveillance and Screening:

Ovarian Cancer Surveillance: Ovarian cancer screening is inaccurate due to a lack of reliable tests. Evidence has shown that ultrasound or CA125 is not effective for screening. Women should be aware of the signs and symptoms of ovarian cancer.

Breast Cancer Surveillance: By contrast to ovarian cancer, screening for breast cancer is effective. BRCA carriers are often advised to start breast cancer screening earlier and more frequently than individuals without these mutations. Breast self-exams are encouraged for early detection. Women should be familiar with how their breasts normally look and feel and consult with their GP if they notice any changes.

Prophylactic Surgery

To reduce the risk of ovarian cancer, some women with BRCA mutations choose to have their ovaries and fallopian tubes removed (salpingo-oophorectomy) typically after they have completed their families. This surgery also reduces the risk of breast cancer, particularly in premenopausal women. In women who did not complete their fertility, removal of fallopian tubes only (ovaries can be preserved) will reduce the ovarian cancer risk by 40% to 60%.

Patients also have the option of prophylactic surgery (mastectomy) to reduce the risk of breast cancer. This involves removing both breasts. Reconstructive surgery can be performed at the same time or later. I can refer patients to breast surgeons who specialise in breast procedures.

Medication

The oral contraceptive pill may be prescribed as it reduces ovarian cancer risk by 50% and the protective effect can last for decades after use. Although, Cancer Council Australia's Public Health Committee states oral contraceptives are also associated with a slightly increased risk of breast cancer in people who have used them in the last 10 years.  The risk declines shortly after stopping use and then returns to normal after 10 or more years of stopping use.

Lifestyle

Maintaining a healthy lifestyle with a balanced diet and regular exercise can help reduce overall cancer risk. Being at a healthy weight can lower the risk of some types of cancer and has multiple health benefits. Adults should be active on most, preferably all days with at least 150 minutes of moderate to vigorous activity per week.

Avoiding smoking can also help reduce your overall cancer risk. Smoking can cause at least 15 different types of cancer, including mucinous ovarian cancer. The longer you have smoked, the greater the risk.

Genetic Counselling

BRCA carriers may benefit from genetic counselling to understand their family planning options if considering prophylactic surgery.

Psychosocial Support

The emotional and psychological impact of carrying BRCA mutations can be overwhelming. Support from mental health professionals or support groups can be valuable for individuals and their families. I can link patients with psychologists who specialise with cancer patients.

Summary

The clinical management plan for BRCA carriers can vary based on individual circumstances, including the specific type of BRCA mutation, age, family history, and personal preferences. People with mutations in BRCA1 or BRCA2 may develop none, one, or multiple cancers. Decisions about cancer risk-reducing surgeries and other clinical management options should be made in careful consultation with your healthcare professionals.

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