Second Opinions from Genetic Specialists Are Not Sought Often Enough for BRCA Tests

As is known, a small proportion of breast cancers are inherited. Identifying them is extremely important because having breast cancer with mutations in the BRCA1 – BRCA2 tumor suppressor genes means a higher cancer risk for both the individual and their family. To protect the family (sisters, mother and children) and, above all, plan the children's future, the presence of an inherited mutation should be investigated. Genetic risk factors carried by a person diagnosed with breast cancer should also be examined. For example, if a woman has hereditary breast cancer, the likelihood of cancer in her other breast is nearly %80. The likelihood of ovarian cancer is around %60, also a very high rate.

But Is It Right to Frighten All Breast Cancer Patients When Discussing This Topic?

As a physician, my greatest concern when reporting such news is that all breast cancer patients will feel that statements about BRCA1 and BRCA2 mutations apply to them, which is very harmful. People reading this news should know that the subject applies only to breast cancers carrying BRCA1 and BRCA2 mutations.

Are BRCA1 and BRCA2 Genetic Tests Performed in Our Country?

Yes, this test is performed at many centers in our country. However, looking at general practice, the rates of investigating and identifying BRCA1 – BRCA2 mutation positivity are extremely low. I cannot give a figure because no precise number is available. Nevertheless, if BRCA1 – BRCA2 tests cannot readily be performed in many hospitals and oncology centers today, this clearly indicates a serious situation and a large group being overlooked.

Are BRCA1 and BRCA2 Tests Also Routinely Accessible in Many Locations in Our Country?

Unfortunately, they are not accessible. Patients usually have to pay for these tests themselves. Identifying this group, representing nearly % 5, is nevertheless extremely important for families and individuals with genetic risk. JAMA Oncology published an article whose results appear to reflect our country's situation in this area too.

In the published study, 3628 patients were tested, and gene mutations were found in 161 (% 5.3). These patients were also found to have insufficient consultation with genetics clinicians, with a very low rate of assessment in this area [only 1334 patients (% 36.8)].

However, simply detecting a BRCA1-2 mutation is insufficient. Managing the individual carrying it and their family is also extremely important. Consultation with clinical geneticists is needed, with collaborative work by a multidisciplinary team (surgeon, medical oncologist, radiation oncologist, psychologist, psychiatrist and clinical geneticist), and joint decisions on the treatment methods to be applied.

Unfortunately, our country has fallen behind in performing these tests. However, we see the same shortcoming in studies from developed countries. I believe that in the coming years scientists, government policies and cancer centers will address this problem, which affects both society and the individual. This will enable breast cancer assessment and solutions in our country without any area being overlooked.