Familial history and prevalence of BRCA1, BRCA2 and TP53 pathogenic variants in HBOC Brazilian patients from a public healthcare service

• DOI: 10.1038/s41598-022-23012-3
• Publication Date: 2022-11-03T18:08:55Z
• Authors: Bruna Palma Matta; Renan Gomes; Daniel Mattos; Renata Olicio; Caroline Macedo N...; Gerson Moura Ferr...; Ayslan Castro Brant; Mariana Boroni; Carolina Furtado; Valdirene Lima; Miguel Ângelo Mar...; Anna Cláudia Evan...
• Keywords: :Neoplasms::Neoplasms by Site::Breast Neoplasms [DISEASES]; Science; :Genetic Phenomena::Genotype::Genetic Predisposition to Disease [PHENOMENA AND PROCESSES]; Diàtesi; Breast Neoplasms; Ovaris - Càncer - Aspectes genètics; :neoplasias::neoplasias por localización::neoplasias de las glándulas endocrinas::neoplasias ováricas [ENFERMEDADES]; Carcinoma, Ovarian Epithelial; Article; 03 medical and health sciences; 0302 clinical medicine; Neoplastic Syndromes, Hereditary; Prevalence; Humans; Genetic Predisposition to Disease; Germ-Line Mutation; :fenómenos genéticos::genotipo::predisposición genética a la enfermedad [FENÓMENOS Y PROCESOS]; Ovarian Neoplasms; BRCA2 Protein; :neoplasias::neoplasias por localización::neoplasias de la mama [ENFERMEDADES]; BRCA1 Protein; :Neoplasms::Neoplasms by Site::Endocrine Gland Neoplasms::Ovarian Neoplasms [DISEASES]; Q; R; :técnicas de investigación::métodos epidemiológicos::recopilación de datos::estadísticas vitales::morbilidad::prevalencia [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS]; :Investigative Techniques::Epidemiologic Methods::Data Collection::Vital Statistics::Morbidity::Prevalence [ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT]; 3. Good health; Mama - Càncer - Aspectes genètics; Medicine; Female; Tumor Suppressor Protein p53; Delivery of Health Care; Brazil

Abstract Several studies have demonstrated the cost-effectiveness of genetic testing for surveillance and treatment carriers germline pathogenic variants associated with hereditary breast/ovarian cancer syndrome (HBOC). In Brazil, seventy percent population is assisted by public Unified Health System (SUS), where still unavailable. And few were performed regarding prevalence HBOC in this context. Here, we estimated BRCA1 , BRCA2 TP53 genes Brazilian patients suspected referred to healthcare service. Predictive power risk prediction models detecting mutation was also evaluated. We found that 41 out 257 tested (15.9%) analyzed genes. Most frequent variant founder c.1010G > A (p.Arg337His), adding accumulated evidence supports inclusion routine patients. Surprisingly, c.5266dupC (p.Gln1756fs), a frequently reported patients, not observed. Regarding use predictive models, familial history might be used improve selection or prioritization testing, especially context limited resources.