Evidence map›Paper›PMID 31488070›Full record

ArticleBMC medical genetics2019

BRCA mutations in a cohort of Iraqi patients presenting to a tertiary referral center.

Chantal Farra, Christelle Dagher, Lama Hamadeh, Nagi El Saghir, Deborah Mukherji

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in BMC medical genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.2field-weighted citation impact, top 36% 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

1 citing paper in PubMed, 4 citations in OpenAlex.

  1. 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

5 authors at 1 institution in 1 country.

Chantal FarraMedical Genetics Unit, Pathology Department, American University of Beirut Medical Center, Beirut, Lebanon.
Christelle DagherDivision of Hematology Oncology, Department of Internal Medicine, American University of Beirut Medical Center, Beirut, Lebanon.
Lama HamadehMedical Genetics Unit, Pathology Department, American University of Beirut Medical Center, Beirut, Lebanon.
Nagi El SaghirDivision of Hematology Oncology, Department of Internal Medicine, American University of Beirut Medical Center, Beirut, Lebanon.
Deborah MukherjiDivision of Hematology Oncology, Department of Internal Medicine, American University of Beirut Medical Center, Beirut, Lebanon. dm25@aub.edu.lb.ORCID 0000-0002-0192-5828
American University of Beirut Medical Center · LB

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundUnique pathogenic mutations in BRCA1 and 2 genes have been reported in different populations of patients originating from the Middle East region. Limited data are available for the Iraqi population. For many reasons a large number of Iraqi patients present to Lebanon for medical care. This is the first report of BRCA full gene sequencing conducted in a cohort of high-risk patients originating from Iraq.

methodsThis is a retrospective review of Iraqi patients diagnosed with breast or ovarian cancer referred for BRCA mutation testing at the American University of Beirut from January 2012 to October 2018.

resultsOf the 42 Iraqi women who underwent genetic testing at our institution, 3 BRCA pathogenic variants were found. Two mutations in BRCA1 c.224_227delAAAG and c.5431C > T and one mutation in BRCA2 c.5576_5579delTTAA were identified. Three other patients had sequence changes considered as variants of undetermined significance.

conclusionIn this cohort of high-risk patients, one out of the three pathogenic BRCA variants detected has not previously been reported in the Middle Eastern population. Further studies are required to delineate the spectrum of BRCA mutations in the Iraqi population.

Indexed as

MutationTertiary Care CentersAdultAgedBRCA1 ProteinBRCA2 ProteinBreast NeoplasmsCohort StudiesFemaleGenes, BRCA2Genetic Predisposition to DiseaseHumansIraqMiddle AgedMiddle EastOvarian NeoplasmsBRCA1 ProteinBRCA1 protein, humanBRCA2 ProteinBRCA2 protein, humanBRCA1BRCA2Breast cancerIraqMiddle East

Identifiers

PMID31488070
PMCPMC6728935
OpenAlexW2971929933

What OpenQuestion holds

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LicenceCC BY
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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.