THEL breast cancer is the most frequent female neoplasm and about the 10% of cases has one hereditary component. But what does this actually mean? Being genetically predisposed it does not mean that the tumor is inevitable but that you have a higher probability than other women to develop it. Knowing the predisposition to the disease is therefore of paramount importance to start a path of active surveillance and prevention.
The role of the BCRA1 and BCRA2 genes in breast cancer
BRCA1 and BRCA2 they were the first genes to be implicated in the onset of breast cancer. Mutations in these two genes, which can be passed on to children, are estimated to be responsible for approximately 5-10 percent of all breast cancers.
Genes are involved
BRCA1 and BRCA2 are not the only genes whose mutations may result in an increased risk of breast cancer. Research has been working for years to build a complete picture of the genetic mutations related to the onset of this tumor and so far has managed to isolate at least a dozen other genes which can affect the development of the disease (TP53 and PTEN are the best known).
Getty Images
When a genetic test is needed
Breast cancer is a multifactorial disease and having multiple cases in the same family is not in itself sufficient to confirm the presence of genetic alterations. In fact, breast cancers induced by genetic mutations have more suspicious characteristics, including onset at a young age (<40 years), bilateral, association with ovarian cancer and male breast cancer. In the presence of these factors, it is advisable to contact a geneticist who, after a careful analysis of personal and family history, will evaluate if there are indications for carrying out the genetic test.
I took the genetic test and tested positive. What risk do I have of getting sick?
Positivity to the BRCA1 and BRCA2 genes it does not imply that you will automatically get breast cancer but that you have a higher probability than that other women to develop the disease. According to recent estimates, those who carry these mutations have a 45 to 90 percent risk of developing breast cancer. Furthermore, cancers associated with BRCA1 and BRCA2 mutations arise earlier and those with them are also more likely to develop ovarian cancer.
I am positive for one of the two genes. What can I and / or should I do?
In the presence of mutations in the BRCA1 and BRCA2 genes, it is necessary implement active surveillance, to identify a possible cancer at an early stage when it is more easily treatable, and at the same time implement all possible strategies to reduce the risk of disease onset. Genetic test positive patients must therefore follow a closer screening exam plan than women of the general population and can evaluatetogether with the reference specialists, taking preventive medicationssuch as tamoxifen, or any preventive surgery, such as the removal of breasts and ovaries. Living with a higher risk of breast and ovarian cancer is not easy but correct information and the support of the oncologist, often supported by a psychologist, are essential to help the woman overcome anxieties and fears and recover her well-being. psychological.
To know more
If you want to know more about lung cancer, download the manual “Breast cancer: questions and answers from diagnosis to after treatment “ made by Umberto Veronesi Foundation
To stay up to date on the latest health news visit the Online magazine of the Umberto Veronesi Foundation
iO Donna © REPRODUCTION RESERVED