RISK ANALYSIS FOR MUTATIONS IN BRCA1 AND BRCA2 GENES IN BREAST CANCER PATIENTS ATTENDED BY SUS AND THEIR FAMILIES.

Camargo Júnior, H. S. A. (CDE Diagnóstico por Imagem, Campinas, SP, Brasil.), Camargo, M. M. A. (CDE Diagnóstico por Imagem, Campinas, SP, Brasil.), Teixeira, S. R. C. (CDE Diagnóstico por Imagem, Campinas, SP, Brasil.), Azevedo, J. (CDE Diagnóstico por I

 

Universidade Federal de GoiásAbout 10% of breast cancers are hereditary, half of which are caused by deleterious mutations in BRCA1/2 genes. There is now possible to verify mutations in these genes through DNA sequencing and MLPA (Multiplex Ligations Probe Amplification) techniques. The objective of the present study was to track down, through BRCAPRO software, the likelihood that breast cancer patients and their female relatives are carriers of mutations in BRCA1/2 genes. Twelve patients with breast cancer attended at the Clinical Hospital of the Federal University of Goiás with a personal and family history suggestive of hereditary breast and ovarian cancer (HBOC) syndrome were screened between November 2016 and January 2017, following the recommendations of the National Health Agency. For the study, the BRCAPRO software of 178 individuals was analyzed, considering as patients that need special monitoring those who present values greater than 10% for the probability of having a mutation, a criterion defined by the American Society of Clinical Oncology. It was observed that 39.10% of the analyzed women had a risk greater than 10% for those to carry mutations in the BRCA genes, with 5.02% presenting a risk greater than 50% for condition. In 33.3% of the patients had a reduced family history, of which 66.6% were younger than 35 years. In 33.3% there are indications that the mutation was inherited from the maternal side, in 16.6% the inheritance is suspected to be paternal, and the same rate appears for women with a strong maternal and paternal history. Through the analyzes with BRCAPRO software, it was possible to verify that patients as well as their families are at high risk for HBOC syndrome, need counseling, and that the software does not work well with a reduced family history.HBOC