Evidence map›Paper›PMID 26564481›Full record

SynthesisBreast cancer research and treatment2015

The spectrum of BRCA1 and BRCA2 alleles in Latin America and the Caribbean: a clinical perspective.

Julie Dutil, Volha A Golubeva, Alba L Pacheco-Torres, Hector J Diaz-Zabala, Jaime L Matta, Alvaro N Monteiro

Abstract readMeta-Analysis
In one paragraph

Synthesis in Breast cancer research and treatment, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 58 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
58citing papers in PubMed, 1 pooled it
–field-weighted citation impact
1 · What the graph read from 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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

58 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Trial
  3. Trial
  4. Identification and Computational Analysis ofMedical sciences (Basel, Switzerland) · 2026
    Article
  5. Article
  6. Hereditary ovarian cancer.Discover oncology · 2026
    Review
  7. Article
  8. Article
  9. Article
  10. 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 · 2024
    Review
  11. Article
  12. Article
  13. Review
  14. Article
  15. Variants inEcancermedicalscience · 2024
    Article
  16. Article
  17. Article
  18. Review
  19. Article
  20. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors.

Julie DutilPonce Research Institute, Ponce Health Sciences University, Ponce, PR, USA. jdutil@gmail.com.
Volha A GolubevaCancer Epidemiology Program, H. Lee Moffitt Cancer Center and Research Institute, Tampa, FL, USA.
Alba L Pacheco-TorresPonce Research Institute, Ponce Health Sciences University, Ponce, PR, USA.
Hector J Diaz-ZabalaPonce Research Institute, Ponce Health Sciences University, Ponce, PR, USA.
Jaime L MattaPonce Research Institute, Ponce Health Sciences University, Ponce, PR, USA.
Alvaro N MonteiroCancer Epidemiology Program, H. Lee Moffitt Cancer Center and Research Institute, Tampa, FL, USA.

Funding

Using MC1R genotype to impact skin cancer risk behaviors in Hispanics/LatinosU54CA163068 · NCI · H. LEE MOFFITT CANCER CTR & RES INST · PI KENNETH Lynn WRIGHT · 2012 to 2026
$23.1M
Using MC1R genotype to impact skin cancer risk behaviors in Hispanics/LatinosU54CA163071 · NCI · PONCE SCHOOL OF MEDICINE · PI Luisa Morales-Torres · 2012 to 2026
$23.0M
RISE Option III: Ponce School of Medicine MBRS-RISE ProgramR25GM082406 · NIGMS · PONCE SCHOOL OF MEDICINE · PI APPLEYARD, CAROLINE B · 2008 to 2021
$9.5M
BRCA1 and BRCA2 missense mutations and breast cancer riskU01CA116167 · NCI · MAYO CLINIC ROCHESTER · PI COUCH, FERGUS JOSEPH · 2013 to 2017
$2.7M
NCI NIH HHS U01 CA116167NCI NIH HHS U54 CA163068NCI NIH HHS U54 CA163071NIGMS NIH HHS R25 GM082406NIGMS NIH HHS R25GM082406
6 · The paper itself

Abstract

Hereditary cancer predisposition gene testing allows the identification of individuals at high risk of cancer that may benefit from increased surveillance, chemoprevention, and prophylactic surgery. In order to implement clinical genetic strategies adapted to each population's needs and intrinsic genetic characteristic, this review aims to present the current status of knowledge about the spectrum of BRCA pathogenic variants in Latin American populations. We have conducted a comprehensive review of 33 studies published between 1994 and 2015 reporting the prevalence and/or spectrum of BRCA1 (OMIM 113705) and BRCA2 (OMIM 600185) variants. The combined sample size for these studies consisted of 4835 individuals from 13 countries in Latin America and the Caribbean, as well as in Hispanics in the United States. A total of 167 unique pathogenic variants have been reported in the existing literature. In unselected breast cancer cases, the prevalence ranged from 1.2 to 27.1%. Some countries presented a few recurrent pathogenic variants, while others were characterized by diverse, non-recurrent variants. The proportion of BRCA pathogenic variants shared between Hispanics in the United States and Latin American populations was estimated at 10.4%. Within Latin America and the Caribbean, 8.2% of the BRCA variants reported were present in more than one country. Countries with high prevalence of BRCA pathogenic variants may benefit from more aggressive testing strategies, while testing of recurrent variant panels might present a cost-effective solution for improving genetic testing in some, but not all, countries.

Indexed as

Genetic TestingBRCA1 ProteinBRCA2 ProteinBreast NeoplasmsCaribbean RegionFemaleGene FrequencyGenetic Predisposition to DiseaseGenetics, PopulationHispanic or LatinoHumansLatin AmericaMutationOvarian NeoplasmsUnited StatesBRCA1 ProteinBRCA1 protein, humanBRCA2 ProteinBRCA2 protein, humanBRCA1BRCA2Breast cancerGenetic testingHereditaryHispanicsLatin America

Identifiers

PMID26564481
PMCPMC4661195

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
Read underepoch 390

Registered trials

None linked

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.