Evidence map›Paper›PMID 40259910›Full record

ArticleEcancermedicalscience2025

Germinal mutations among patients with breast cancer in Colombia: is BRCA3 coming?

Lisa Ximena Rodríguez Rojas, Liliana Doza Martínez, Jorge Andrés Olave Rodríguez, Sandra Eliana Murillo Rusynke, Paola Andrea Pérez Castellano, David Alexander Bolaños Beltrán, Helen Johana Ortiz Rojas, José Antonio Nastasi Catanese

Abstract read
In one paragraph

Article in Ecancermedicalscience, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
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

8 authors.

Lisa Ximena Rodríguez RojasFundación Valle del Lili, Servicio de Genética Humana, Cra 98 No. 18 - 49, Cali 760031, Colombia.
Liliana Doza MartínezFundación Valle del Lili, Servicio de Genética Humana, Cra 98 No. 18 - 49, Cali 760031, Colombia.
Jorge Andrés Olave RodríguezFacultad de Ciencias de la Salud, Universidad ICESI, Cali 760031, Colombia.
Sandra Eliana Murillo RusynkeFundación Valle del Lili, Servicio de Genética Humana, Cra 98 No. 18 - 49, Cali 760031, Colombia.
Paola Andrea Pérez CastellanoFundación Valle del Lili, Servicio de Genética Humana, Cra 98 No. 18 - 49, Cali 760031, Colombia.
David Alexander Bolaños BeltránFundación Valle del Lili, Servicio de Genética Humana, Cra 98 No. 18 - 49, Cali 760031, Colombia.
Helen Johana Ortiz RojasFundación Valle del Lili, Centro de Investigaciones Clínicas, Cra 98 No. 18 - 49, Cali 760031, Colombia.
José Antonio Nastasi CataneseFundación Valle del Lili, Servicio de Genética Humana, Cra 98 No. 18 - 49, Cali 760031, Colombia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Purpose: Breast cancer is the most common type of cancer in women and accounts for 25% of all cancers worldwide. The mechanisms by which it develops include germline (generally inherited) and somatic mutations. There are six mutations with the highest incidence in the Colombian population, called the Colombia profile, which is associated with the Methods: This study describes the frequency and type of variants in hereditary cancer genes associated with breast cancer detected by the next-generation sequencing of a panel of 111 hereditary cancer genes, including Results: This analysis allowed the identification of variants associated with breast cancer in 307 patients from a population in southwestern Colombia, of which 19% had pathogenic and probably pathogenic mutations associated with hereditary cancer. According to the variant classification, it was found that the mutation frequency in BRCA1 was 17%, in BRCA2 was 14% and in the Conclusion: In summary, in the Colombian population, there is a great diversity of germline mutations in genes other than

Indexed as

ATMBRCA1BRCA2BRCA3germ mutationhereditary breast cancermultigene panel

Identifiers

PMID40259910
PMCPMC12010175

What OpenQuestion holds

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Registered trials

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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.