Recommendations for Advancing the Diagnosis and Management of
Hereditary Breast and Ovarian Cancer in Brazil

Hereditary Breast and Ovarian Cancer (HBOC) syndrome is a genetic condition that can be inherited through either the maternal or paternal carrier. Most families affected by this condition have mutations within the genes BRCA1 (breast cancer 1, early onset) and BRCA2 (breast cancer 2). Genetic testing and genetic counselling are essential components to both prevention and treatment, assessing patient’s risk factors for HBOC syndrome and determining the best method of care. With screening and appropriate prevention methods, smaller, more curable cancers are detected and treated sooner. HBOC syndrome is not always easily diagnosed, as this condition has a variety of factors that lead to the identification of the disease within a family. Examples of more obvious traits include numerous diagnosis of triple-negative breast cancer or a male in the family diagnosed with breast cancer. However, HBOC syndrome generally requires genetic testing and family history to determine a clear diagnosis. Those families determined to carry HBOC syndrome have an increased risk for cancers such as: early-onset breast cancer, triple-negative breast cancer, bilateral breast cancer, ovarian cancer at any age, prostate cancer, pancreatic cancer, melanoma, a second primary cancer and cancer recurrence. After a diagnosis, methods of cancer prevention include breast and ovarian cancer screenings, medications and risk-reducing surgery. It is essential to have a diagnosis of HBOC syndrome prior to pregnancy, as there are methods such as preimplantation genetic diagnosis that could halt the inheritance of the mutation to the next generation.

In October of 2018, the Americas Health Foundation (AHF) convened a meeting of Brazilian experts on HBOC syndrome in the country, including oncologists, gynecologists, geneticists and radiologists to develop recommendations for increasing the early diagnosis, treatment and effective management of HBOC syndrome in the country. The resulting article, "Recommendations for Advancing the Diagnosis and Management of Hereditary Breast and Ovarian Cancer in Brazil", has been published in the Journal of Global Oncology. Click here to read the full article.