Tumor suppressor genes are segments of DNA that code for negative regulator proteins, which keep the cell from undergoing uncontrolled division.
They prevent abnormal cell growth to ensure the stability of the cell’s genetic material, by playing a crucial role in regulatory mechanisms when cells divide and increase in number.
There are three types of tumor suppressor genes that carry out different major functions: one type tells cells to slow down and stop dividing, another type is responsible for fixing damages in the DNA which can happen when cells divide and a third type is responsible for telling cells when to die, a process called apoptosis or programmed cells death.
Among these, the tumor suppressor p53 is the most famous and has been described as the “guardian of the genome” because of its role in conserving stability by preventing genetic mutation.
It was identified in 1979 by Arnold Levine, David Lane and William Old, working at Princeton University, Dundee University (UK) and Sloan-Kettering Memorial Hospital respectively.
Subsequently, p53 has been voted molecule of the year by the Science Magazine in 1993.
When tumor suppressor genes don’t function correctly, the cells with DNA damage continue to divide and can accumulate further DNA damage that can eventually lead to the formation of a cancerous cell.
P53 tumor suppressor gene is known to be mutated in more than 50% of human cancers (including breast cancer).
The genes BRCA1 (BReast Cancer 1) and BRCA2 (BReast Cancer 2) are also considered as tumor suppressors genes because they control cell growth and fix damaged or broken DNA. BRCA1 is located on chromosome 17 and BRCA2 on chromosome 13.
When either of these genes suffers a mutation, DNA damage may not be repaired properly and cells are more likely to develop additional alterations resulting in cancer.
Germline mutations in BRCA1 and BRCA2 are the most common cause of hereditary breast cancer and also may increase the risk of other cancers for both men and women.
First degree relatives of a BRCA mutation carrier have a much higher risk of developing the cancer. Each child of a BRCA mutation carrier parent has 50% chance of inheriting the mutation. A family member affected with breast cancer by age 40 further implicates an increased risk for other family members.
Breast cancer is the most common cancer in European women affecting around 1 in 8 women over the course of a lifetime. Ovarian cancer is the fifth most common malignancy in women across Europe and affects 14 in 1000 women.
Women who inherit harmful variants in BRCA genes accumulate broken and deformed chromosomes and therefore are more likely to develop breast and/or ovarian cancer even before 30 years old.
That is why leading scientists advocate for breast and ovarian cancer screening for every woman from age 30 as part of routine medical care.
Identifying BRCA mutations enables preventive personalized actions best suited for the identified mutation, resulting in vastly improved survival rates and better quality of life.
Without genetic screening, many women with BRCA1 or BRCA2 mutations would not be identified until they developed cancer.
BRCA1 and BRCA2 variants today can be detected by a non-invasive quick screening test risk-free and painless performed via buccal swab no matter your age, providing the advanced knowledge that empowers you and your doctor to make informed decisions to protect your health.
For further information and to have the opportunity to perform the screening test visit our page on Serenity.