According to experts, mutations in the two genes BRCA1 and BRCA2 significantly increase the risk of developing cancer. Individuals carrying a BRCA1/BRCA2 mutation have a risk of developing breast cancer of up to approximately 80% and ovarian cancer of approximately 40%. Not only women, but men carrying this gene mutation also have a high risk of developing prostate cancer; in both sexes, the risk of pancreatic cancer is also increased.

Individuals with a family history of BRCA gene mutations should undergo genetic testing for screening and evaluation.

Who should get tested for BRCA1/BRCA2?

Assoc. Prof. Dr. Pham Cam Phuong recommends that individuals in the following risk groups consider undergoing testing:

• Having a mother, sister, or daughter who has had breast cancer or ovarian cancer, especially if the disease appeared before the age of 45 or as cancer in both breasts.
• Families with male breast cancer - a rare condition but a strong suggestive sign of a BRCA mutation.
• Having a relative with early-onset pancreatic cancer or prostate cancer; especially when there are family members simultaneously diagnosed with breast cancer or ovarian cancer.
• Having a personal history of breast cancer treatment. Testing helps assess the risk of recurrence in the remaining breast as well as the risk of developing ovarian cancer.

Knowing the risk to proactively prevent it

According to experts, BRCA1/BRCA2 testing is not intended to definitively confirm whether a person will develop cancer, but rather to identify the risk in order to build an appropriate monitoring and prevention plan.

At the Institute of Nuclear Medicine and Oncology, Bach Mai Hospital, BRCA1/BRCA2 gene mutation testing is currently performed using molecular biotechnology technology, with a cost of approximately 10.3 million VND.

Test results can provide two important values:

• If no mutations are detected, the tested individual and their family can alleviate psychological burdens and continue screening according to recommendations for average-risk individuals.
• If a mutation is detected, doctors will develop an individualized monitoring plan, including increasing the frequency of breast cancer screening by mammography, combined with magnetic resonance imaging (MRI) and other necessary tests to detect the disease at an early stage, when treatment effectiveness is high.

Note: BRCA1/BRCA2 mutations increase the risk of developing cancer but do not mean that one will definitely contract the disease. The indication for testing must be consulted by a specialist based on personal and family history. This is also the basis for developing an appropriate screening and prevention strategy for each individual.

Dieu Hien