Evidence map›Paper›PMID 25814778›Full record

SynthesisDisease markers2015

BRCA genetic screening in Middle Eastern and North African: mutational spectrum and founder BRCA1 mutation (c.798_799delTT) in North African.

Abdelilah Laraqui, Nancy Uhrhammer, Hicham E L Rhaffouli, Yassine Sekhsokh, Idriss Lahlou-Amine, Tahar Bajjou, Farida Hilali, Jamila El Baghdadi, Abderrahmane Al Bouzidi, Youssef Bakri and 2 more

Open access · hybridAbstract readSystematic Review
In one paragraph

Synthesis in Disease markers, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.

0numbers the graph read from it
0cells of the map it votes in
27citing papers in PubMed
2.7field-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

27 citing papers in PubMed, 41 citations in OpenAlex.

  1. Article
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  12. Identification of Eleven NovelFrontiers in oncology · 2021
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  17. Identification of NovelFrontiers in genetics · 2020
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  18. International journal of molecular epidemiology and genetics · 2020
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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

12 authors at 3 institutions in 2 countries.

Abdelilah LaraquiLaboratoire de Recherche et de Biosécurité-P3, Hôpital Militaire d'Instruction Mohammed V, 10100 Rabat, Morocco ; Laboratoire de Biochimie-Immunologie, Faculté des Sciences, Université Mohammed V-Agdal, 10080 Rabat, Morocco.
Nancy UhrhammerDépartement d'Oncogénétique, Centre Jean Perrin, 58 rue Montalembert, 63011 Clermont-Ferrand, France.
Hicham E L RhaffouliLaboratoire de Recherche et de Biosécurité-P3, Hôpital Militaire d'Instruction Mohammed V, 10100 Rabat, Morocco.
Yassine SekhsokhLaboratoire de Recherche et de Biosécurité-P3, Hôpital Militaire d'Instruction Mohammed V, 10100 Rabat, Morocco.
Idriss Lahlou-AmineLaboratoire de Recherche et de Biosécurité-P3, Hôpital Militaire d'Instruction Mohammed V, 10100 Rabat, Morocco.
Tahar BajjouLaboratoire de Recherche et de Biosécurité-P3, Hôpital Militaire d'Instruction Mohammed V, 10100 Rabat, Morocco.
Farida HilaliLaboratoire de Recherche et de Biosécurité-P3, Hôpital Militaire d'Instruction Mohammed V, 10100 Rabat, Morocco.
Jamila El BaghdadiUnité de Génétique, Hôpital Militaire d'Instruction Mohammed V, 10100 Rabat, Morocco.
Abderrahmane Al BouzidiLaboratoire d'Anatomopathologie, Hôpital Militaire d'Instruction Mohammed V, Equipe de Recherche en Pathologie Tumorale, Faculté de Médecine et de Pharmacie, 10100 Rabat, Morocco.
Youssef BakriLaboratoire de Biochimie-Immunologie, Faculté des Sciences, Université Mohammed V-Agdal, 10080 Rabat, Morocco.
Said AmzaziLaboratoire de Biochimie-Immunologie, Faculté des Sciences, Université Mohammed V-Agdal, 10080 Rabat, Morocco.
Yves-Jean BignonDépartement d'Oncogénétique, Centre Jean Perrin, 58 rue Montalembert, 63011 Clermont-Ferrand, France.
Mohammed V University · MACentre Jean Perrin · FRHôpital Militaire Moulay Ismail · MA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThe contribution of BRCA1 mutations to both hereditary and sporadic breast and ovarian cancer (HBOC) has not yet been thoroughly investigated in MENA.

methodsTo establish the knowledge about BRCA1 mutations and their correlation with the clinical aspect in diagnosed cases of HBOC in MENA populations. A systematic review of studies examining BRCA1 in BC women in Cyprus, Jordan, Egypt, Lebanon, Morocco, Algeria, and Tunisia was conducted.

resultsThirteen relevant references were identified, including ten studies which performed DNA sequencing of all BRCA1 exons. For the latter, 31 mutations were detected in 57 of the 547 patients ascertained. Familial history of BC was present in 388 (71%) patients, of whom 50 were mutation carriers. c.798_799delTT was identified in 11 North African families, accounting for 22% of total identified BRCA1 mutations, suggesting a founder allele. A broad spectrum of other mutations including c.68_69delAG, c.181T>G, c.5095C>T, and c.5266dupC, as well as sequence of unclassified variants and polymorphisms, was also detected.

conclusionThe knowledge of genetic structure of BRCA1 in MENA should contribute to the assessment of the necessity of preventive programs for mutation carriers and clinical management. The high prevalence of BC and the presence of frequent mutations of the BRCA1 gene emphasize the need for improving screening programs and individual testing/counseling.

Indexed as

Genes, BRCA1MutationAfrica, NorthernBreast NeoplasmsFemaleGene FrequencyGenetic TestingHeterozygoteHumansMiddle East

Identifiers

PMID25814778
PMCPMC4359853
OpenAlexW1980514388

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.