Trial reportScientific reports2018
The germline mutational landscape of BRCA1 and BRCA2 in Brazil.
Trial report in Scientific reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
48 citing papers in PubMed, 1 synthesis or guideline pooled it, 92 citations in OpenAlex.
- Systematic review of the molecular basis of hereditary breast and ovarian cancer syndrome in Brazil: the current scenario.European journal of medical research · 2024Pooled it
- Exome sequencing reveals new insights into the germline landscape of inflammatory breast cancer among Tunisian patients.Journal of translational medicine · 2025Article
- Molecular characterization of hereditary breast and ovarian cancer patients from a public precision medicine service in the Southeast Brazilian population.Scientific reports · 2025Article
- ACMG secondary findings in the Brazilian rare genomes project: insights from 5402 genome sequencing.Journal of human genetics · 2025Article
- Prevalence of BRCA1 and BRCA2 mutations in ovarian cancer patients from Yunnan Province in southwest China.European journal of cancer prevention : the official journal of the European Cancer Prevention Organisation (ECP) · 2025Article
- Epidemiological profile of breast cancer in a reference center in the north region of Brazil.Revista brasileira de ginecologia e obstetricia : revista da Federacao Brasileira das Sociedades de Ginecologia e Obstetricia · 2025Article
- Spectrum of germline pathogenic variants in Brazilian hereditary breast/ovarian cancer cases.Breast cancer research and treatment · 2024Article
- Genomic ancestry and cancer among Latin Americans.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2024Review
- Hereditary breast cancer next-generation sequencing panel evaluation in the south region of Brazil: A novel BRCA2 candidate pathogenic variant is reported.Molecular genetics & genomic medicine · 2024Article
- Germline mutations in BRCA1 and BRCA2 among Brazilian women with ovarian cancer treated in the Public Health System.BMC cancer · 2024Article
- Hereditary breast cancer next-generation sequencing (NGS) panel evaluation in the south region of Brazil: a novelmedRxiv : the preprint server for health sciences · 2024Article
- BRCA1, BRCA2, and TP53 germline and somatic variants and clinicopathological characteristics of Brazilian patients with epithelial ovarian cancer.Cancer medicine · 2024Article
- Importance of genetic cancer risk assessment as a strategy to stratify risk and provide precision prevention in high-risk patients and families.Revista da Associacao Medica Brasileira (1992) · 2024Article
- DNA damage targeted therapy for advanced breast cancer.Exploration of targeted anti-tumor therapy · 2024Review
- TheInternational journal of molecular sciences · 2023Article
- Assessment of medical knowledge toward genetic testing for individuals with hereditary breast and ovarian cancer syndrome in Brazil.Preventive medicine reports · 2023Article
- Germline Mutations Landscape in a Cohort of the State of Minas Gerais, Brazil, in Patients Who Underwent Genetic Counseling for Gynecological and Breast Cancer.Revista brasileira de ginecologia e obstetricia : revista da Federacao Brasileira das Sociedades de Ginecologia e Obstetricia · 2023Article
- Article
- Familial history and prevalence of BRCA1, BRCA2 and TP53 pathogenic variants in HBOC Brazilian patients from a public healthcare service.Scientific reports · 2022Article
- Mutation Patterns in Portuguese Families with Hereditary Breast and Ovarian Cancer Syndrome.Cancers · 2022Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
49 authors at 19 institutions in 3 countries.
Funding
Abstract
The detection of germline mutations in BRCA1 and BRCA2 is essential to the formulation of clinical management strategies, and in Brazil, there is limited access to these services, mainly due to the costs/availability of genetic testing. Aiming at the identification of recurrent mutations that could be included in a low-cost mutation panel, used as a first screening approach, we compiled the testing reports of 649 probands with pathogenic/likely pathogenic variants referred to 28 public and private health care centers distributed across 11 Brazilian States. Overall, 126 and 103 distinct mutations were identified in BRCA1 and BRCA2, respectively. Twenty-six novel variants were reported from both genes, and BRCA2 showed higher mutational heterogeneity. Some recurrent mutations were reported exclusively in certain geographic regions, suggesting a founder effect. Our findings confirm that there is significant molecular heterogeneity in these genes among Brazilian carriers, while also suggesting that this heterogeneity precludes the use of screening protocols that include recurrent mutation testing only. This is the first study to show that profiles of recurrent mutations may be unique to different Brazilian regions. These data should be explored in larger regional cohorts to determine if screening with a panel of recurrent mutations would be effective.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.