Understanding BRCA Mutations and Ovarian Cancer Risk

Understanding BRCA Mutations and Ovarian Cancer Risk

In recent years, more and more attention has been given to BRCA (Breast Cancer susceptibility gene) mutations and their link to ovarian cancer. As per the American Cancer Society, women with a BRCA1 or BRCA2 gene mutation have a higher chance of developing ovarian cancer compared to other women.

A BRCA mutation occurs when there is a change or mistake in either the BRCA1 or BRCA2 genes, which are responsible for producing proteins that function as tumor suppressors. When these genes are not functioning correctly, the cells’ DNA damage repair process may not work as effectively, leading to an increase in the amount of damaged cells that could lead to cancer.

The inherited mutations are responsible for about 5-15% of ovarian cancer cases. An individual with a BRCA mutation may be at higher risk for ovarian cancer compared to someone without a mutation. If a woman carries a BRCA1 mutation, she will have a 35-70% risk of developing ovarian cancer in her lifetime, and if she has a BRCA2 mutation, the risk is slightly less at 10-30%.

Ovarian cancer is often called the silent killer because it could remain asymptomatic until it has reached its advanced stages. The symptoms of ovarian cancer include abdominal bloating, feeling full quickly while eating, pelvic or abdominal pain, frequent urination, and difficulty eating. If a woman experiences these symptoms frequently or for an extended period, it is essential to consult with a healthcare professional.

To lower the risk of ovarian cancer, women who have a BRCA mutation may opt for prophylactic surgeries. A prophylactic bilateral salpingo-oophorectomy (BSO) is a surgical procedure that removes both ovaries and fallopian tubes to reduce the risk of ovarian cancer. This surgery reduces the risk of ovarian cancer by up to 80-90%. Additionally, some women may choose to undergo a prophylactic mastectomy, which reduces the risk of breast cancer by up to 95%.

However, for those who may not want to go under surgery, their healthcare provider may offer additional screening and surveillance options. The surveillance may include physical examinations, transvaginal or pelvic ultrasound, and blood tests, such as CA-125.

Testing for BRCA mutations could be expensive and may only be recommended for individuals with a family history or early-onset diagnosis of cancer. If a woman has a family history of cancer, they must consult with a genetic counselor or a healthcare provider who specializes in hereditary cancer.

In conclusion, women with BRCA mutations, particularly BRCA1 mutations, are at a higher risk of developing ovarian cancer. These women can benefit from preventative surgeries or increased surveillance to help reduce the risk. Consulting with a healthcare professional, particularly a genetic counselor, can help individuals better understand their risk for ovarian and other types of cancer.

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