Evidence map›Paper›PMID 25320599›Full record

ArticleAfrican health sciences2014

Novel nonsense mutation of BRCA2 gene in a Moroccan man with familial breast cancer.

Soukaina Guaoua, Ilham Ratbi, Jaber Lyahyai, Siham Chafai El Alaoui, Fatima-Zahra Laarabi, Abdelaziz Sefiani

Open access · hybridAbstract readCase Reports
In one paragraph

Article in African health sciences, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed, 1 pooled it
1.2field-weighted citation impact, top 20% 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

10 citing papers in PubMed, 1 synthesis or guideline pooled it, 10 citations in OpenAlex.

  1. Pooled it
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  3. Review
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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

6 authors at 1 institution in 1 country.

Soukaina GuaouaCentre de génomique humaine, Faculté de médecine et de pharmacie, Université Mohammed V Souissi, Rabat, Morocco ; Département de génétique médicale, Institut National d'Hygiène, Rabat, Morocco.
Ilham RatbiCentre de génomique humaine, Faculté de médecine et de pharmacie, Université Mohammed V Souissi, Rabat, Morocco.
Jaber LyahyaiCentre de génomique humaine, Faculté de médecine et de pharmacie, Université Mohammed V Souissi, Rabat, Morocco.
Siham Chafai El AlaouiDépartement de génétique médicale, Institut National d'Hygiène, Rabat, Morocco.
Fatima-Zahra LaarabiDépartement de génétique médicale, Institut National d'Hygiène, Rabat, Morocco.
Abdelaziz SefianiCentre de génomique humaine, Faculté de médecine et de pharmacie, Université Mohammed V Souissi, Rabat, Morocco ; Département de génétique médicale, Institut National d'Hygiène, Rabat, Morocco.
Institut National d'Hygiène du Maroc · MA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundBreast cancer is the most common cancer in women worldwide. About 5 to 10% of cases are due to an inherited predisposition in two major genes, BRCA1 and BRCA2, transmitted as an autosomal dominant form. Male breast cancer is rare and is mainly due to BRCA2 than BRCA1 germline mutations.

objectiveMolecular study of BRCA2 gene in man with familial breast cancer.

methodsPCR and direct sequencing of BRCA2 gene.

resultsIdentification of novel heterozygous germline mutation c.6428C>A ; p.Ser2143Stop of BRCA2 gene.

Indexed as

Genes, BRCA2Genetic Predisposition to DiseaseAdultBreast NeoplasmsBreast Neoplasms, MaleCodon, NonsenseDNA Mutational AnalysisHumansMaleMoroccoTreatment OutcomeCodon, NonsenseBRCA2 genebreast cancergenetic counselingmalemutation

Identifiers

PMID25320599
PMCPMC4196389
OpenAlexW1978683051

What OpenQuestion holds

Textmetadata
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.