Evidence map›Paper›PMID 38566764›Full record

ArticleEcancermedicalscience2024

Variants in

Fernanda J Martin, Isabel M Saffie, Mabel A Hurtado, Diana Avila-Jaque, Rodrigo A Lagos, Carolina A Selman, Jonathan Z Huserman, Valentina A Castillo, Badir J Chahuán

Open access · goldAbstract read
In one paragraph

Article in Ecancermedicalscience, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
2.8field-weighted citation impact, top 10% 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

3 citing papers in PubMed, 5 citations in OpenAlex.

  1. Article
  2. Review
  3. Clinical Management in BRCA Carriers with Early Breast Cancer.Cancer control : journal of the Moffitt Cancer Center
    Review
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

9 authors at 3 institutions in 2 countries.

Fernanda J MartinUnidad Asesoramiento Genético Oncológico, Fundación Arturo López Pérez, Santiago 7500921, Chile.
Isabel M SaffieCirugía de mama, Fundación Arturo López Pérez, Santiago 7500921, Chile.
Mabel A HurtadoUnidad Asesoramiento Genético Oncológico, Fundación Arturo López Pérez, Santiago 7500921, Chile.
Diana Avila-JaqueSección de Genética, Hospital San Juan de Dios, Santiago 8350488, Chile.
Rodrigo A LagosUnidad estadística, Fundación Arturo López Pérez, Santiago 7500921, Chile.
Carolina A SelmanSubdirección Unidades Diagnósticas, Fundación Arturo López Pérez, Santiago 7500921, Chile.
Jonathan Z HusermanDepartamento Genética, Hospital Base San José Osorno, Osorno 5311523, Chile.
Valentina A CastilloDepartamento Genética, Hospital Clínico Universidad de Chile, Santiago 8380453, Chile.
Badir J ChahuánUnidad Asesoramiento Genético Oncológico, Fundación Arturo López Pérez, Santiago 7500921, Chile.
Twitter (United States) · USFundación Arturo López Pérez · CLHospital Clínico de la Universidad de Chile · CL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Purpose: The aim was to assess the diagnostic yield of next generation sequencing (NGS) multi-gene panels for breast and ovarian cancer in a high-complexity cancer centre in Chile. Additionally, our goal was to broaden the genotypic spectrum of BRCA variants already identified in Chilean families. Methods: Retrospective analysis was conducted on the genetic test results of 722 individuals from Fundación Arturo López Pérez's genetic counselling unit between 2016 and 2021. A comprehensive literature review encompassing articles analysing the frequency of germinal pathogenic variants in Results: 23.5% of the panels had positive results, with 60% due to pathogenic variants in the Conclusion: Our findings advocate for the integration of NGS multi-gene panel testing as a primary strategy within our population. This approach allows for the comprehensive assessment of single nucleotide variants and CNVs in

Indexed as

BRCA1BRCA2Chilegermline variants

Identifiers

PMID38566764
PMCPMC10984842
OpenAlexW4392809352

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.