What is hereditary ovarian cancer?

Hereditary ovarian cancer is a type of ovarian cancer that results from genetic changes inherited from a parent. Although most cases of ovarian cancer occur due to genetic changes that arise during a person's lifetime, a proportion of cases are linked to inherited genetic changes, most notably mutations in the BRCA1 and BRCA2 genes [1]. These inherited changes significantly increase the risk of developing ovarian cancer, as well as other types of cancer such as breast, pancreatic, and prostate cancer [2].

Which genes are associated with hereditary ovarian cancer?

BRCA1 and BRCA2 are the most common and significant genes associated with hereditary ovarian cancer. These genes produce proteins that help repair damaged DNA. When harmful changes (mutations) occur in one of these genes, the body's ability to repair DNA is impaired, which increases the risk of cancer cell growth [2]. Women who inherit a harmful change in the BRCA1 gene have a 39% to 58% lifetime risk of developing ovarian cancer, while the risk ranges from 13% to 29% for women who inherit a harmful change in the BRCA2 gene [2]. By comparison, the risk of developing ovarian cancer in the general female population is about 1.1% [2].

Symptoms of hereditary ovarian cancer

Ovarian cancer, whether hereditary or non-hereditary, often does not cause clear early symptoms. When symptoms do appear, the cancer has usually reached an advanced stage. Potential symptoms include pain, bloating, or a feeling of pressure in the abdomen or pelvis, the sudden or frequent need to urinate, difficulty eating or feeling full quickly, the presence of a pelvic mass, and digestive issues such as gas, bloating, or constipation [1]. If any of these symptoms appear persistently or are concerning, it is advised to consult a doctor to evaluate the condition.

When should genetic testing be considered?

It is recommended to consider genetic testing for BRCA1 and BRCA2 gene mutations if you have a strong family history of ovarian, breast, or other cancers linked to these genes. Risk factors that warrant consideration for genetic testing include [2]:

• A family member with a known harmful genetic change in BRCA1 or BRCA2.
• Ashkenazi Jewish ancestry (where the prevalence of BRCA mutations is higher).
• A personal or family history of breast cancer at age 50 or younger.
• A personal or family history of ovarian cancer, male breast cancer, pancreatic cancer, or high-grade/advanced prostate cancer.

Genetic testing can be performed using a blood or saliva sample, as inherited mutations are present in every cell of the body [2]. It is always recommended to consult with a genetic counselor or healthcare provider to discuss the benefits and risks of genetic testing and to understand the potential results [2].

Prevention options after a positive genetic test

If genetic testing shows a harmful change in BRCA1 or BRCA2, there are several options to reduce cancer risk or detect it early [2]:

• Enhanced screening: Although there are no known effective methods for early detection of ovarian cancer that improve long-term survival, some doctors may recommend transvaginal ultrasounds and CA-125 blood tests [2].
• Preventive surgery: This may include the removal of the ovaries and fallopian tubes to significantly reduce the risk of ovarian cancer.
• Medications: A doctor may recommend certain medications to reduce risk.

It is important to discuss these options with your healthcare team to determine what is most appropriate for your individual case. For more information on genetic testing and prevention, you can visit Hereditary Ovarian Cancer: When Should You Consider Genetic Testing and Prevention? (Arabic).

Medical references

• Ovarian Cancer
• BRCA Gene Changes: Cancer Risk and Genetic Testing