ReviewBiological research2017
Mutations in BRCA1, BRCA2 and other breast and ovarian cancer susceptibility genes in Central and South American populations.
Review in Biological research, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 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
23 citing papers in PubMed, 1 synthesis or guideline pooled it, 59 citations in OpenAlex.
- Association of PIN3 16-bp duplication polymorphism of TP53 with breast cancer risk in Mali and a meta-analysis.BMC medical genetics · 2020Pooled it
- Scoring System for Predicting Breast Cancer Risk Among Women in Regions with Limited Healthcare Infrastructure in Indonesia.Asian Pacific journal of cancer prevention : APJCP · 2026Article
- Strong association of single nucleotide polymorphisms in BRCA1, ATM, and CHEK2 with breast cancer susceptibility in a sub-population of Iranian women.Breast cancer research and treatment · 2025Article
- Molecular analysis of BRCA1 and BRCA2 genes in La Rioja (Spain): five new variants.Hereditary cancer in clinical practice · 2024Article
- Variants inEcancermedicalscience · 2024Article
- Multilocus inherited neoplasia allele syndrome: report of uncommon combinations betweenEcancermedicalscience · 2024Article
- Association of Germline Variation in Driver Genes with Breast Cancer Risk in Chilean Population.International journal of molecular sciences · 2023Article
- Landscape of germlineFrontiers in oncology · 2023Article
- Prevalence of BRCA1 and BRCA2 Germline Mutations in Patients of African Descent with Early-Onset and Familial Colombian Breast Cancer.The oncologist · 2022Article
- A multidisciplinary approach remains the best strategy to improve and strengthen the management of ovarian cancer (Review).International journal of oncology · 2021Review
- Article
- Long Non-Coding RNAs as Potential Diagnostic and Prognostic Biomarkers in Breast Cancer: Progress and Prospects.Frontiers in oncology · 2021Review
- Familial Breast Cancer: Disease Related Gene Mutations and Screening Strategies for Chinese Population.Frontiers in oncology · 2021Review
- Economic Modelling of Screen-and-Treat Strategies for Brazilian Women at Risk of Hereditary Breast and Ovarian Cancer.Applied health economics and health policy · 2021Article
- Implementation of a molecular tumour board in LATAM: the impact on treatment decisions for patients evaluated at Instituto Alexander Fleming, Argentina.Ecancermedicalscience · 2021Article
- BRCA1 and BRCA2 Germline Mutation Analysis in Hereditary Breast/Ovarian Cancer Families from the Aures Region (Eastern Algeria): First Report.Pathology oncology research : POR · 2020Article
- Sequencing technology status ofNPJ genomic medicine · 2020Article
- Genetic and clinical characterization of BRCA-associated hereditary breast and ovarian cancer in Navarra (Spain).BMC cancer · 2019Article
- Review
- Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Breast cancer (BC) is the most common malignancy among women worldwide. A major advance in the understanding of the genetic etiology of BC was the discovery of BRCA1 and BRCA2 (BRCA1/2) genes, which are considered high-penetrance BC genes. In non-carriers of BRCA1/2 mutations, disease susceptibility may be explained of a small number of mutations in BRCA1/2 and a much higher proportion of mutations in ethnicity-specific moderate- and/or low-penetrance genes. In Central and South American populations, studied have focused on analyzing the distribution and prevalence of BRCA1/2 mutations and other susceptibility genes that are scarce in Latin America as compared to North America, Europe, Australia, and Israel. Thus, the aim of this review is to present the current state of knowledge regarding pathogenic BRCA variants and other BC susceptibility genes. We conducted a comprehensive review of 47 studies from 12 countries in Central and South America published between 2002 and 2017 reporting the prevalence and/or spectrum of mutations and pathogenic variants in BRCA1/2 and other BC susceptibility genes. The studies on BRCA1/2 mutations screened a total of 5956 individuals, and studies on susceptibility genes analyzed a combined sample size of 11,578 individuals. To date, a total of 190 different BRCA1/2 pathogenic mutations in Central and South American populations have been reported in the literature. Pathogenic mutations or variants that increase BC risk have been reported in the following genes or genomic regions: ATM, BARD1, CHECK2, FGFR2, GSTM1, MAP3K1, MTHFR, PALB2, RAD51, TOX3, TP53, XRCC1, and 2q35.
Indexed as
Identifiers
What OpenQuestion holds
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.