The Portuguese Society of Oncology (SPO) told Lusa that “women who are carriers of these hereditary alterations, of BRCA [genetic] mutations , have a greatly increased risk of getting breast cancer”.
“As knowledge has evolved, we realised that there were some breast cancer subtypes that were more associated with this genetic test, that there were other causes that could be identified, in addition to family history, and that [this identification] would be important not only for the patient, to carry out surveillance and prophylactic surgeries, but also for their descendants, who could be tested and, while still healthy, could prevent cancer,” explained Noémia Afonso.
According to the specialist, carrying out the genetic test allows not only to define the most appropriate therapies for the patient, but also gives the possibility of alerting family members to the importance of taking the test and knowing their risk, which is not only restricted to breast cancer, as the presence of BRCA gene mutations also increases the risk of cancer of the ovary, pancreas and prostate (in men).
The president of the SPO also emphasises that, for some types of cancer and some situations, women should be tested after 45 years, namely in triple negative breast cancer. “Testing is recommended for at least 60 years of age,” she says.
Noémia Afonso also considers that, since this genetic alteration can have a therapeutic implication, the tests can also be ordered by the assistant physician, namely the oncologist.
The specialist also exemplified: “Let's imagine a woman who has breast cancer and is going to undergo surgery and undergo chemotherapy. If you do a genetic test in good time, you can quickly choose, instead of having only one breast operated on, to have both breasts and thus reduce the risk of cancer”.
"Equally, if a woman already has an advanced disease and gets tested quickly, she may have a more suitable therapeutic weapon," she added.
Noémia Afonso stresses, however, that “if the presence of the mutation is confirmed, the patient should obviously be guided to a genetic counselling consultation, to monitor other neoplasms, such as the risk of pancreatic, ovarian, melanoma, cancer in her and in their family members”.
As for men, in whom breast cancer is rare, the president of the SPO reminds that in carriers of these BRCA genetic mutations “the risk of breast cancer increases” and argues that “everyone should be tested, regardless of family history and age”.
She explained that men born to mothers who had breast cancer and were eventually tested and found to have BRCA 1 or 2 mutations have a much higher chance of developing breast cancer.
"If in most men the risk is 0.1 percent, in carriers of BRCA 2 mutations it exceeds 10%, reaching in some cases 12%," she said.
According to data released in the scope of the "saBeR more ContA" campaign, women who carry a mutation in the BRCA 1 gene have a 65% to 80% chance of developing breast cancer. On the other hand, carriers of mutations in the BRCA 2 gene have a probability of 50% to 75%. Women without this mutation have an 11% chance.
As for men, BRCA 1 mutation carriers have a 3% chance of developing breast cancer, while BRCA 2 mutation carriers have a chance of up to 12%. Men without these mutations have a 0.1% chance.
Last year 7041 new cases of breast cancer were diagnosed.