SPONSORED CONTENT: Breast cancer is the most prevalent cancer in women globally. According to the World Health Organization approximately 2.5 million women are diagnosed with breast cancer annually with a mortality rate of almost 700 000 women.
in South Africa. It highlights an important drive by public healthcare organisations and the private sector to increase breast cancer awareness.World Health Organization
Cancer is caused by mutations in the genome. Many gene mutations may occur during a person’s life and are therefore not inherited. The latter may be triggered by risk factors including acute or chronic stress, carcinogens, alcohol consumption, tobacco products, diet, lack of physical activity, environmental pollutants, ultraviolet radiation, reproductive and hormonal factors, occupational exposures, infection-attributable cancers, number of pregnancies and age.
Germ line variants may increase a woman’s susceptibility to get breast cancer. While variants in several germ line breast cancer susceptibility genes play a role, the most-researched genes are involved in the repair of damaged DNA and include BRCA1 and BRCA2, followed by PALB2. Examples of other important genes are ATM and TP53.
The way breast cancer is diagnosed has developed significantly during the past years. It is attempted to target the treatment to the type of breast cancer that is identified in the patient. The classification is as follows: The type of breast cancer as described above will assist in determining the path to follow in terms of ER, PR and HER2-targeted treatments and the need for precision targeted-therapy, surgery, chemotherapy, and radiation. Therefore, unlike many years ago, there is no blanket treatment for breast cancer, but it is individualized according to the type of cancer and the presence of specific gene variants.
Larger scale cancer susceptibility gene studies are crucial in South Africa and the rest of Africa and future research should include large whole exome or genome sequencing studies.
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