ArticlePloS one2013
Comprehensive analysis of BRCA1, BRCA2 and TP53 germline mutation and tumor characterization: a portrait of early-onset breast cancer in Brazil.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers, 2 of them syntheses that pooled it.
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Who cites it
50 citing papers in PubMed, 2 syntheses or guidelines pooled it, 94 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
- Characterization of the HER2 status in BRCA-mutated breast cancer: a single institutional series and systematic review with pooled analysis.ESMO open · 2022Pooled it
- The germline mutational landscape of BRCA1 and BRCA2 in Brazil.Scientific reports · 2018Trial
- In Silico Analysis of the Role of Estrogen Signaling in the Expression of Metabolic Genes in Breast Cancer.Asian Pacific journal of cancer prevention : APJCP · 2025Article
- Cracking the code: Pioneering early detection and management of breast cancer in the Brazilian public healthcare system.Dialogues in health · 2025Review
- Clinicopathological characteristics of BRCA1-associated breast carcinoma patients in Kazakhstan.Discover oncology · 2025Article
- Impact of breast cancer genetic testing in Brazilian patients: insights from the MAGENTA study.Frontiers in oncology · 2025Article
- Public neoantigens in breast cancer immunotherapy (Review).International journal of molecular medicine · 2024Review
- Custom target-sequencing in triple-negative and luminal breast cancer from young Brazilian patients.Clinics (Sao Paulo, Brazil) · 2024Article
- Risk of metastasis in BRCA2 carriers diagnosed with triple-negative breast cancer.Cancer medicine · 2023Article
- Familial history and prevalence of BRCA1, BRCA2 and TP53 pathogenic variants in HBOC Brazilian patients from a public healthcare service.Scientific reports · 2022Article
- Breast cancer in a teenage girl with BRCA mutation: A case report from a low middle-income country.International journal of surgery case reports · 2022Article
- Germline Pathogenic Variant Prevalence Among Latin American and US Hispanic Individuals Undergoing Testing for Hereditary Breast and Ovarian Cancer: A Cross-Sectional Study.JCO global oncology · 2022Article
- Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.Scientific reports · 2022Article
- Haplotypes of single cancer driver genes and their local ancestry in a highly admixed long-lived population of Northeast Brazil.Genetics and molecular biology · 2022Article
- Article
- Heterogeneity of Circulating Tumor Cell-Associated Genomic Gains in Breast Cancer and Its Association with the Host Immune Response.Cancer research · 2021Article
- Medical guidelines for Li-Fraumeni syndrome 2019, version 1.1.International journal of clinical oncology · 2021Article
- Mutation screening of germline TP53 mutations in high-risk Chinese breast cancer patients.BMC cancer · 2020Article
- Recommendations for Advancing the Diagnosis and Management of Hereditary Breast and Ovarian Cancer in Brazil.JCO global oncology · 2020Review
Corrections and comments
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Authors and funding
17 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Germline mutations in BRCA1, BRCA2 and TP53 genes have been identified as one of the most important disease-causing issues in young breast cancer patients worldwide. The specific defective biological processes that trigger germline mutation-associated and -negative tumors remain unclear. To delineate an initial portrait of Brazilian early-onset breast cancer, we performed an investigation combining both germline and tumor analysis. Germline screening of the BRCA1, BRCA2, CHEK2 (c.1100delC) and TP53 genes was performed in 54 unrelated patients <35 y; their tumors were investigated with respect to transcriptional and genomic profiles as well as hormonal receptors and HER2 expression/amplification. Germline mutations were detected in 12 out of 54 patients (22%) [7 in BRCA1 (13%), 4 in BRCA2 (7%) and one in TP53 (2%) gene]. A cancer familial history was present in 31.4% of the unrelated patients, from them 43.7% were carriers for germline mutation (37.5% in BRCA1 and in 6.2% in the BRCA2 genes). Fifty percent of the unrelated patients with hormone receptor-negative tumors carried BRCA1 mutations, percentage increasing to 83% in cases with familial history of cancer. Over-representation of DNA damage-, cellular and cell cycle-related processes was detected in the up-regulated genes of BRCA1/2-associated tumors, whereas cell and embryo development-related processes were over-represented in the up-regulated genes of BRCA1/2-negative tumors, suggesting distinct mechanisms driving the tumorigenesis. An initial portrait of the early-onset breast cancer patients in Brazil was generated pointing out that hormone receptor-negative tumors and positive familial history are two major risk factors for detection of a BRCA1 germline mutation. Additionally, the data revealed molecular factors that potentially trigger the tumor development in young patients.
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