Germline molecular data in hereditary breast cancer in Brazil: Lessons from a large single-center analysis
| العنوان: | Germline molecular data in hereditary breast cancer in Brazil: Lessons from a large single-center analysis |
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| المؤلفون: | Daniele Xavier Assad, Andréa Discaciati de Miranda, Romualdo Barroso, Maria Isabel Achatz, Gustavo Dos Santos Fernandes, Natalia Polidorio, Renata Lazari Sandoval, Carlos Henrique dos Anjos, Ana Carolina Rathsam Leite, Ana Carolina Salles de Mendonça Ferreira, Daniel Meirelles Barbalho |
| المصدر: | PLoS ONE PLoS ONE, Vol 16, Iss 2, p e0247363 (2021) |
| سنة النشر: | 2020 |
| مصطلحات موضوعية: | Epidemiology, Geographical locations, Tertiary Care Centers, Breast Tumors, Medicine and Health Sciences, Medicine, Family history, education.field_of_study, Multidisciplinary, medicine.diagnostic_test, BRCA1 Protein, Cancer Risk Factors, Prostate Cancer, Prostate Diseases, Genomics, Penetrance, Oncology, Female, Fanconi Anemia Complementation Group N Protein, Brazil, Research Article, Genetic Markers, medicine.medical_specialty, Genetic counseling, Science, Urology, Population, Genetic Causes of Cancer, Breast Neoplasms, Genetic Counseling, Pancreatic Cancer, Breast cancer, Genomic Medicine, Internal medicine, Breast Cancer, Gastrointestinal Tumors, Genetics, Humans, Genetic Predisposition to Disease, Genetic Testing, education, CHEK2, Germ-Line Mutation, Genetic testing, Retrospective Studies, BRCA2 Protein, Clinical Genetics, business.industry, Genetic heterogeneity, Cancers and Neoplasms, Biology and Life Sciences, Human Genetics, South America, medicine.disease, Checkpoint Kinase 2, Genitourinary Tract Tumors, Premenopause, Medical Risk Factors, Tumor Suppressor Protein p53, People and places, business |
| الوصف: | Brazil is the largest country in South America and the most genetically heterogeneous. The aim of the present study was to determine the prevalence of germline pathogenic variants (PVs) in Brazilian patients with breast cancer (BC) who underwent genetic counseling and genetic testing at a tertiary Oncology Center. We performed a retrospective analysis of the medical records of Brazilian patients with BC referred to genetic counseling and genetic testing between August 2017 and August 2019. A total of 224 unrelated patients were included in this study. Premenopausal women represented 68.7% of the cohort. The median age at BC diagnosis was 45 years. Multigene panel testing was performed in 219 patients, five patients performed single gene analysis or family variant testing. Forty-eight germline PVs distributed among 13 genes were detected in 20.5% of the patients (46/224). Eighty-five percent of the patients (91/224) fulfilled NCCN hereditary BC testing criteria. Among these patients, 23.5% harbored PVs (45/191). In the group of patients that did not meet NCCN criteria, PV detection rate was 3% (1/33). A total of 61% of the patients (28/46) harbored a PV in a high-penetrance BC gene: 19 (8.5%) BRCA1/2, 8 (3.5%) TP53, 1 (0.5%) PALB2. Moderate penetrance genes (ATM, CHEK2) represented 15.2% (7/46) of the positive results. PVs detection was statistically associated (pBRCA genes, it represented 43.5% of the positive results and 51.2% of the actionable variants. Considering the observed prevalence of PVs in actionable genes beyond BRCA1/2 (9%, 20/224), multigene panel testing may offer an effective first-tier diagnostic approach in this population. |
| تدمد: | 1932-6203 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23d3ce74dca155438b93bebfc054e46f https://pubmed.ncbi.nlm.nih.gov/33606809 |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi.dedup.....23d3ce74dca155438b93bebfc054e46f |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 19326203 |
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