Genetic Predisposition to Ovarian Cancer: What You Need to Know

Ovarian cancer is one of the most common gynaecological cancers with very high death rates. It
affects thousands of women each year. While the exact causes are not fully understood, research
has shown that genetics can play a significant role in increasing a woman’s risk of developing this
type of cancer. In this article, we’ll explore the link between genetic predisposition and ovarian
cancer, and what you need to know to better understand your risk.

The Role of BRCA Genes

One of the most well-known genetic factors linked to ovarian cancer is mutations in the BRCA1 and
BRCA2 genes. These genes are responsible for producing proteins that help repair damaged DNA and
play a crucial role in maintaining the genetic stability of cells. When mutations or defects occur in
these genes, it can lead to an increased risk of developing certain types of cancers, including ovarian
cancer.

Women with a pathogenic mutation in the BRCA1 gene have a lifetime risk of developing ovarian
cancer that ranges from 35% to 70%. For those with a BRCA2 mutation, the risk is slightly lower,
ranging from 10% to 30%. It’s important to note that not all women with BRCA mutations will
develop ovarian cancer, but their risk is significantly higher compared to the general population.

Other Genetic Factors

While BRCA mutations are the most well-known genetic risk factors for ovarian cancer, there are
other gene mutations that can also play a role. Some of these include:

Lynch Syndrome: This is an inherited condition caused by mutations in genes involved in DNA repair,
such as MLH1, MSH2, MSH6, and PMS2. Women with Lynch syndrome have an increased risk of
developing ovarian cancer, as well as other types of cancers like colorectal and endometrial cancers.

BRIP1 Mutations: Mutations in the BRIP1 gene, which is involved in DNA repair, have been
associated with an increased risk of ovarian cancer.

RAD51C and RAD51D Mutations: These genes are also involved in DNA repair, and mutations in
them have been linked to an elevated risk of ovarian cancer.

Family History and Risk Assessment

If you have a family history of ovarian or breast cancer, especially among close relatives such as your
mother, sisters, or daughters, it’s important to discuss this with your healthcare provider. Your risk
may be higher if your family members were affected at a younger age. They may recommend
genetic testing to determine if you carry any known mutations associated with ovarian cancer.

Genetic testing is now easily available, at an affordable cost but should be done only under the
supervision of your oncologist. Additionally, there are risk assessment tools available that can help
estimate your likelihood of carrying a genetic mutation based on your family history and other
factors. These tools can be useful in determining whether genetic testing is recommended for you.

Risk Management and Prevention

If you are found to have a genetic predisposition to ovarian cancer, there are steps you can take to
manage your risk and potentially prevent the development of the disease. These may include:

Increased Screening: Women with a high risk of ovarian cancer may be recommended to undergo
more frequent and intensive screening, such as regular transvaginal ultrasounds and CA-125 blood
tests.

Risk-Reducing Surgery: In some cases, a preventive surgery called a risk-reducing salpingo-
oophorectomy (RRSO) may be recommended. This procedure involves the surgical removal of the
ovaries and fallopian tubes, which can significantly reduce the risk of developing ovarian cancer. It is
a simple minimally invasive surgery which done as day care.

Chemoprevention: Certain medications, such as oral contraceptives or other hormonal therapies,
may help reduce the risk of ovarian cancer in some high-risk women.

Lifestyle Changes: Maintaining a healthy weight, exercising regularly, and avoiding smoking can also
help lower the risk of ovarian cancer, even for those with a genetic predisposition.

Understanding your genetic risk for ovarian cancer is an important step in taking control of your
health. If you have a family history of the disease or other risk factors, it’s crucial to discuss your
concerns with a healthcare professional and explore your options for screening, risk management,
and prevention. By being proactive and informed, you can make informed decisions to minimize
your risk and prioritize your well-being.