Evidence map›Paper›PMID 24532140›Full record

ArticleMolecular biology reports2014

Association of genetic variants at TOX3, 2q35 and 8q24 with the risk of familial and early-onset breast cancer in a South-American population.

Isabel Elematore, Patricio Gonzalez-Hormazabal, Jose M Reyes, Rafael Blanco, Teresa Bravo, Octavio Peralta, Fernando Gomez, Enrique Waugh, Sonia Margarit, Gladys Ibañez and 5 more

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PubMed Publisher
In one paragraph

Article in Molecular biology reports, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 5 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
22citing papers in PubMed, 5 pooled it
4.2field-weighted citation impact, top 6% of its field
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

22 citing papers in PubMed, 5 syntheses or guidelines pooled it, 34 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Pooled it
  5. Pooled it
  6. Global trends inFrontiers in oncology · 2023
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  8. Risk Association ofCurrent oncology (Toronto, Ont.) · 2022
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  9. AnJournal of genetics · 2019
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  10. Review
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  12. Article
  13. Article
  14. Review
  15. Previous GWAS hits in relation to young-onset breast cancer.Breast cancer research and treatment · 2017
    Article
  16. Article
  17. Genomic Disparities in Breast Cancer Among Latinas.Cancer control : journal of the Moffitt Cancer Center · 2016
    Article
  18. Article
  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

15 authors at 7 institutions in 1 country.

Isabel ElematoreHuman Genetics Program, Institute of Biomedical Sciences (ICBM), School of Medicine, University of Chile, Av. Independencia 1027, P.O. Box 70061, Santiago, Chile.
Patricio Gonzalez-Hormazabal
Jose M Reyes
Rafael Blanco
Teresa Bravo
Octavio Peralta
Fernando Gomez
Enrique Waugh
Sonia Margarit
Gladys Ibañez
Carmen Romero
Janara Pakomio
Gigia Roizen
Gabriella A Di Capua
Lilian Jara
University of Chile · CLClinica Santa Maria · CLClínica Dávila · CLClínica Las Condes · CLHospital Clínico de la Universidad de Chile · CLInstituto Nacional del Cáncer · CLUniversidad del Desarrollo · CL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Recent Genome-Wide Association Studies have identified several single nucleotide polymorphisms (SNPs) associated with breast cancer (BC) among women of Asian, European, and African-American ancestry. Nevertheless, the contribution of these variants in the South American population is unknown. Furthermore, there is little information about the effect of these risk alleles in women with early BC diagnosis. In the present study, we evaluated the association between rs3803662 (TOX3, also known as TNRC9), rs13387042 (2q35), and rs13281615 (8q24) with BC risk in 344 Chilean BRCA1/2-negative BC cases and in 801 controls. Two SNPs, rs3803662 and rs13387042, were significantly associated with increased BC risk in familial BC and in non-familial early-onset BC. The risk of BC increased in a dose-dependent manner with the number of risk alleles (P-trend < 0.0001 and 0.0091, respectively). The odds ratios for BC in familial BC and in early-onset non-familial BC were 3.76 (95%CI 1.02-13.84, P = 0.046) and 8.0 (95%CI 2.20-29.04, P = 0.002), respectively, for the maximum versus minimum number of risk alleles. These results indicate an additive effect of the TOX3 rs3803662 and 2q35 rs13387042 alleles for BC risk. We also evaluated the interaction between rs3803662 and rs13387042 SNPs. We observed an additive interaction only in non-familial early-onset BC cases (AP = 0.72 (0.28-1.16), P = 0.001). No significant association was observed for rs13281615 (8q24) with BC risk in women from the Chilean population. The strongly increased risk associated with the combination of low-penetrance risk alleles supports the polygenic inheritance model of BC.

Indexed as

Genetic Association StudiesAgedAged, 80 and overAge of OnsetAllelesApoptosis Regulatory ProteinsBreast NeoplasmsChromosomes, Human, Pair 2Chromosomes, Human, Pair 8FemaleGenetic Predisposition to DiseaseHigh Mobility Group ProteinsHumansMiddle AgedPolymorphism, Single NucleotideReceptors, ProgesteroneApoptosis Regulatory ProteinsHigh Mobility Group ProteinsReceptors, ProgesteroneTOX3 protein, humanTrans-Activators

Identifiers

PMID24532140
OpenAlexW2088326044

What OpenQuestion holds

Textmetadata
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.