Evidence map›Paper›PMID 33167914›Full record

ArticleBMC cancer2020

Combination of phenotype and polygenic risk score in breast cancer risk evaluation in the Spanish population: a case -control study.

J C Triviño, A Ceba, E Rubio-Solsona, D Serra, I Sanchez-Guiu, G Ribas, R Rosa, M Cabo, L Bernad, G Pita and 15 more

Open access · goldAbstract read
In one paragraph

Article in BMC cancer, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed, 2 pooled it
0.7field-weighted citation impact, top 25% 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

7 citing papers in PubMed, 2 syntheses or guidelines pooled it, 12 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Article
  4. Article
  5. Article
  6. Article
  7. 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

25 authors at 6 institutions in 1 country.

J C TriviñoSistemas Genómicos, Ronda Guillermo Marconi 6, Parque Tecnológico, 46980, Paterna, Valencia, Spain.
A CebaSistemas Genómicos, Ronda Guillermo Marconi 6, Parque Tecnológico, 46980, Paterna, Valencia, Spain.
E Rubio-SolsonaSistemas Genómicos, Ronda Guillermo Marconi 6, Parque Tecnológico, 46980, Paterna, Valencia, Spain.
D SerraSistemas Genómicos, Ronda Guillermo Marconi 6, Parque Tecnológico, 46980, Paterna, Valencia, Spain.
I Sanchez-GuiuSistemas Genómicos, Ronda Guillermo Marconi 6, Parque Tecnológico, 46980, Paterna, Valencia, Spain.
G RibasSistemas Genómicos, Ronda Guillermo Marconi 6, Parque Tecnológico, 46980, Paterna, Valencia, Spain.
R RosaSistemas Genómicos, Ronda Guillermo Marconi 6, Parque Tecnológico, 46980, Paterna, Valencia, Spain.
M CaboSistemas Genómicos, Ronda Guillermo Marconi 6, Parque Tecnológico, 46980, Paterna, Valencia, Spain.
L BernadSistemas Genómicos, Ronda Guillermo Marconi 6, Parque Tecnológico, 46980, Paterna, Valencia, Spain.
G PitaSpanish National Genotyping Center (CEGEN), Madrid, Spain.
A Gonzalez-NeiraSpanish National Genotyping Center (CEGEN), Madrid, Spain.
G LegardaSistemas Genómicos, Ronda Guillermo Marconi 6, Parque Tecnológico, 46980, Paterna, Valencia, Spain.
J L DiazSistemas Genómicos, Ronda Guillermo Marconi 6, Parque Tecnológico, 46980, Paterna, Valencia, Spain.
A García-VigaraObstetrics and Gynecology Service, Hospital Clínico Universitario - INCLIVA, Av Blasco Ibáñez 17, 46010, Valencia, Spain.
A Martínez-AspasObstetrics and Gynecology Service, Hospital Clínico Universitario - INCLIVA, Av Blasco Ibáñez 17, 46010, Valencia, Spain.
M EscrigDepartment of Hematology and Medical Oncology, Hospital Clínico Universitario de Valencia, University of Valencia, INCLIVA Biomedical Research Institute, Valencia, Spain.
B BermejoDepartment of Hematology and Medical Oncology, Hospital Clínico Universitario de Valencia, University of Valencia, INCLIVA Biomedical Research Institute, Valencia, Spain.
P ErolesDepartment of Hematology and Medical Oncology, Hospital Clínico Universitario de Valencia, University of Valencia, INCLIVA Biomedical Research Institute, Valencia, Spain.
J IbáñezGeneral Directorate Public Health, Valencian Community, Valencia, Spain.
D SalasGeneral Directorate Public Health, Valencian Community, Valencia, Spain.
A JulveRadiology Service, Hospital Clínico Universitario - INCLIVA, Av Blasco Ibáñez 17, 46010, Valencia, Spain.
A CanoObstetrics and Gynecology Service, Hospital Clínico Universitario - INCLIVA, Av Blasco Ibáñez 17, 46010, Valencia, Spain.
A LluchDepartment of Hematology and Medical Oncology, Hospital Clínico Universitario de Valencia, University of Valencia, INCLIVA Biomedical Research Institute, Valencia, Spain.
R MiñambresSistemas Genómicos, Ronda Guillermo Marconi 6, Parque Tecnológico, 46980, Paterna, Valencia, Spain.
J BenitezSpanish National Genotyping Center (CEGEN), Madrid, Spain. jbenitez@cnio.es.
Sistemas Genómicos · ESHospital Clínico Universitario de Valencia · ESSpanish National Cancer Research Centre · ESGeneralitat Valenciana · ESINCLIVA Health Research Institute · ESUniversitat de València · ES

Funding

AVI INNTAL21/19/002H2020 European Research Council 634935IVACE IMIDTA/2016/75IVACE IMIDTA/2018/7
6 · The paper itself

Abstract

backgroundIn recent years, the identification of genetic and phenotypic biomarkers of cancer for prevention, early diagnosis and patient stratification has been a main objective of research in the field. Different multivariable models that use biomarkers have been proposed for the evaluation of individual risk of developing breast cancer.

methodsThis is a case control study based on a population-based cohort. We describe and evaluate a multivariable model that incorporates 92 Single-nucleotide polymorphisms (SNPs) (Supplementary Table S1) and five different phenotypic variables and which was employed in a Spanish population of 642 healthy women and 455 breast cancer patients.

resultsOur model allowed us to stratify two groups: high and low risk of developing breast cancer. The 9th decile included 1% of controls vs 9% of cases, with an odds ratio (OR) of 12.9 and a p-value of 3.43E-07. The first decile presented an inverse proportion: 1% of cases and 9% of controls, with an OR of 0.097 and a p-value of 1.86E-08.

conclusionsThese results indicate the capacity of our multivariable model to stratify women according to their risk of developing breast cancer. The major limitation of our analysis is the small cohort size. However, despite the limitations, the results of our analysis provide proof of concept in a poorly studied population, and opens up the possibility of using this method in the routine screening of the Spanish population.

Indexed as

Genetic Predisposition to DiseasePhenotypePolymorphism, Single NucleotideAdultAgedBiomarkers, TumorBreast NeoplasmsCase-Control StudiesFemaleFollow-Up StudiesGenome-Wide Association StudyGenotypeHumansMiddle AgedPrognosisRisk AssessmentBiomarkers, TumorIdentification of high risk womenPolygenic risk scorePredictive testRisk algorithms

Identifiers

PMID33167914
PMCPMC7654173
OpenAlexW3104815154

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.