BRCA1 and BRCA2 gene mutations
People who carry BRCA1 and BRCA2 gene mutations are at a higher risk of developing certain types of cancer, particularly breast and ovarian cancer, but also pancreatic and prostate cancer. For this reason, it is possible to be tested for an inherited mutation according to the criteria provided by international guidelines that consider individual and family history, type of cancer and age of onset.
BRCA1 and BRCA2 mutations and the risk of breast and ovarian cancer
What happens if the test is positive? Each result must be analysed taking into account the patient’s medical history as a whole. Patients who test positive should be screened more frequently and may consider preventive surgery, along with their referral specialists.
Undergoing a test that highlights a hereditary component of cancer disease can have several implications, including psychological ones. The identification of a dangerous mutation in BCRA1 or BRCA2 makes it necessary to participate in some screening earlier than expected and may confront the patient with difficult decisions, such as undergoing preventive surgery with the removal of breasts and ovaries.
The test results may also involve close relatives, who will be advised to check whether they also carry the same variant. Moreover, it may happen that the test result is inconclusive and leads to the discovery of a ‘variant of uncertain significance’, a mutation whose effect is not certain. For these reasons, oncogenetic counselling is essential.
Oncogenetic counselling for cancer prevention
Oncogenetic counselling informs the individual of the risks associated with the mutation and the preventive measures to be taken in the presence of hereditary forms. The specialist collects the anamnestic data of the patient and their family and then analyses the parameters that do or do not require further diagnostic investigation.
A pathogenic variant of the BRCA1 and BRCA2 genes is not necessarily associated with the onset of a tumour, but indicates an inherited predisposition that is to be considered an additional risk factor. The risk percentage in subjects with genetic mutation increases up to 20–40% for ovarian cancer and up to 60–70% for breast cancer.
Similarly, the absence of this variant does not exclude the possibility of developing other pathogenic variants in different genes or of being exposed to other risk factors for the onset of cancer.
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