ArticleScientific reports2022
Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.
Article in Scientific reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers, 1 of them a synthesis that pooled it.
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Who cites it
49 citing papers in PubMed, 1 synthesis or guideline pooled it, 72 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
- Neoadjuvant carboplatin in triple-negative breast cancer: results from NACATRINE, a randomized phase II clinical trial.Breast cancer research and treatment · 2023Trial
- Article
- The Brazilian Genome Map Oncology Subproject: a nationwide multicentre hospital-based whole-genome sequencing study of breast, prostate, and colorectal cancer.Lancet regional health. Americas · 2026Article
- The genetic landscape of breast cancer in young women from Morocco: implications for diagnosis and treatment.BMC medical genomics · 2026Article
- KRAS-G12C: The neglected biomarker to detect patients with MUTYH-associated polyposis.International journal of cancer · 2026Article
- Regional disparities in breast cancer mortality in Brazil: a spatial analysis using uncorrected and adjusted data, 2000-2023.Scientific reports · 2026Article
- Beyond 1100delC: distinct CHEK2 variants and unique cancer phenotypes in Northeast Brazil.Familial cancer · 2026Article
- Mono-allelic MUTYH mutation as the likely inherited etiology of hereditary breast cancer in a patient from a multi-cancer family- report of a family and literature review.BMC medical genomics · 2025Review
- Molecular characterization of hereditary breast and ovarian cancer patients from a public precision medicine service in the Southeast Brazilian population.Scientific reports · 2025Article
- Germline variants detected by multigene panel testing in patients with suspected hereditary breast cancer.Surgery today · 2025Article
- Clinical TP53 genetic testing is recommended for HER2-positive breast cancer patients aged 35 or younger.NPJ genomic medicine · 2025Article
- The Spectrum of Genetic Mutations Among Patients with Hereditary Breast and Ovarian Cancer.Journal of clinical medicine · 2025Article
- Moderate-Low Risk Breast Cancer Gene Expression in a Romanian Population.International journal of molecular sciences · 2025Article
- A Breast Cancer Polygenic Risk Score Validation in 15,490 Brazilians Using Exome Sequencing.Diagnostics (Basel, Switzerland) · 2025Article
- Genetic Features of Tumours Arising in the Context of Suspected Hereditary Cancer Syndromes withGenes · 2025Article
- CHEK2-related breast cancer: real-world challenges.Familial cancer · 2025Article
- Los olvidados: Non-BRCA variants associated with Hereditary breast cancer in Mexican population.Breast cancer research : BCR · 2025Article
- Impact of breast cancer genetic testing in Brazilian patients: insights from the MAGENTA study.Frontiers in oncology · 2025Article
- Exploring breast cancer associated-gene panel for next-generation sequencing and identifying new, pathogenic variants in breast cancer from western China.Journal of Cancer · 2025Article
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Authors and funding
13 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genetic diversity of germline variants in breast cancer (BC) predisposition genes is unexplored in miscegenated populations, such those living in Latin America. We evaluated 1663 Brazilian BC patients, who underwent hereditary multigene panel testing (20-38 cancer susceptibility genes), to determine the spectrum and prevalence of pathogenic/likely pathogenic (P/LP) variants and variants of uncertain significance (VUS). Associations between P/LP variants and BC risk were estimated in a case-control analysis of BC patients and 18,919 Brazilian reference controls (RC). In total, 335 (20.1%) participants carried germline P/LP variants: 167 (10.0%) in BRCA1/2, 122 (7.3%) in BC actionable non-BRCA genes and 47 (2.8%) in candidate genes or other cancer predisposition genes. Overall, 354 distinctive P/LP variants were identified in 23 genes. The most commonly mutated genes were: BRCA1 (27.4%), BRCA2 (20.3%), TP53 (10.5%), monoallelic MUTYH (9.9%), ATM (8.8%), CHEK2 (6.2%) and PALB2 (5.1%). The Brazilian variant TP53 R337H (c.1010G>A, p.Arg337His), detected in 1.6% of BC patients and 0.1% of RC, was strongly associated with risk of BC, OR = 17.4 (95% CI: 9.4-32.1; p < 0.0001); monoallelic MUTYH variants c.1187G>A and c.536A>G, detected in 1.2% (0.9% RC) and 0.8% (0.4% RC) of the patients, respectively, were not associated with the odds of BC, the former with OR = 1.4 (95% CI: 0.8-2.4; p = 0.29) and the latter with OR = 1.9 (95% CI: 0.9-3.9; p = 0.09). The overall VUS rate was 46.1% for the entire patient population. Concluding, the use of multigene panel testing almost doubled the identification of germline P/LP variants in clinically actionable predisposition genes in BC patients. In Brazil, special attention should be given to TP53 P/LP variants.
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