DT Health: Gene test useful for breast cancer risk assessment

As a result, healthcare providers should educate all women about their breast screening options, as well as the associated risks and benefits to help them determine which screening is best for them and when to do it. All patients with breast cancer or ovarian cancer are now recommended to be offered a gene test as it determines treatment and response to specific medicines.

In India, the incidence of breast cancer and its accompanying mortality is on the rise. Breast cancer has now surpassed cervical and oral cavity cancer as the most frequent form of cancer. This is supported by the National Cancer Registry Program 2020 Report, which states that one in every 29 Indian women will develop breast cancer during their lifetime.

Also, the mortality due to breast cancer in India is at a staggering 56% as compared to 6% in Europe and 19% in the US which means more than 50% of women who are diagnosed in the care and treatment that breast cancer patients receive but also be the cause of a lack of awareness on risk assessment and early detection.

It's worth noting that the average age at which patients with the BRCA mutation develop breast cancer is 40, compared to 61 in the general population. Around 55 to 65% of women with a BRCA1 mutation and 45% of women with a BRCA2 mutation will develop breast cancer by the age of 70.

Mammography remains an important investigation for the screening of early cancers. In gene mutation carriers, options of chemoprevention of breast cancer or risk-reducing surgery, or close surveillance by mammography remain the mainstay. 

On the other hand, in mutation-negative individuals, the frequency of surveillance by mammography can be decreased. Genetic counseling and testing allow for enhanced screening of individuals or family members who carry mutated genes and are at risk of developing breast cancer, allowing for early detection and better access to risk-reduction management and treatment.