Ovarian Cancer: How Do Genetic Changes Drive The Majority Of The Cases?

Genetic changes play a significant role in driving the majority of ovarian cancer cases, particularly in familial or hereditary forms of the disease. Out of all the ovarian cancer women who are diagnosed, almost 20 to 25 per cent of them have inherited it from their family. The two key genes associated with ovarian cancer are BRCA1 and BRCA2, known as breast cancer genes 1 and 2. Mutations in these genes are mainly responsible for the risk of developing ovarian cancer as well as breast cancer. 

Genetic Changes in Ovarian Cancer:

When BRCA1 and BRCA2 are mutated, their ability to repair DNA damage is impaired. They can disrupt normal cell growth and division in the ovaries, leading to the formation of tumours. These genetic changes can occur spontaneously or be inherited from a parent who carries the mutated gene. Thus, when one or more relatives have had ovarian cancer or breast cancer, there is a higher risk of ovarian cancer. If multiple relatives have been affected by these 2 types of cancer, the risk increases proportionately.

Recommendations for Ovarian Cancer:

Screening for ovarian cancer is recommended for women with a family history of these cancers. Genetic testing for BRCA1 and BRCA2 mutations is relevant when the affected patient is positive for these genes. BRCA1 and BRCA2 gene mutation testing can help in the risk assessment of the family members. So, if a mother has had ovarian cancer and we have found the BRCA1 and BRCA2 gene mutation in her, then only does it make sense to test the daughter and grandchildren for these mutated genes. 

In familial cases, the risk of carrying these mutations is only about 20 to 25 per cent. Therefore, there's no need for undue alarm if there's a family history of ovarian cancer. Regular screening with gene testing, ultrasound, and CA 125 in these high-risk individuals can help in the early detection of ovarian cancer.

The author is Consultant - Minimally Invasive Gynaecology, Manipal Hospital Yeshwanthpur

Dr. Shafalika S B

Guest Author