Evidence map›Paper›PMID 28814288›Full record

ArticleBMC medical genetics2017

Monoallelic characteristic-bearing heterozygous L1053X in BRCA2 gene among Sudanese women with breast cancer.

Alsmawal A Elimam, Mohamed Elmogtba Mouaweia Mohamed Aabdein, Mohamed El-Fatih Moly Eldeen, Hisham N Altayb, Mohamed Adel Taha, Mohammed N Nimir, Mohamed D Dafaalla, Musaab M Alfaki, Mohamed A Abdelrahim, Abdelmohaymin A Abdalla and 4 more

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Article in BMC medical genetics, 2017. 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
–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

3 citing papers in PubMed.

  1. Article
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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

14 authors.

Alsmawal A ElimamPost-graduate College, Al-Neelain University, Khartoum, Sudan. toteil1@hotmail.com.
Mohamed Elmogtba Mouaweia Mohamed AabdeinPost-graduate College, Al-Neelain University, Khartoum, Sudan.
Mohamed El-Fatih Moly EldeenDepartment of Histopathology and Cytology, Faculty of Medical Laboratory Sciences, Alneelain University, Khartoum, Sudan.
Hisham N AltaybFaculty of medical laboratory, Sudan University of science and technology, Khartoum, Sudan.
Mohamed Adel TahaDaoud Research Group, Khartoum, Sudan.
Mohammed N NimirDaoud Research Group, Khartoum, Sudan.
Mohamed D DafaallaDaoud Research Group, Khartoum, Sudan.
Musaab M AlfakiDaoud Research Group, Khartoum, Sudan.
Mohamed A AbdelrahimDaoud Research Group, Khartoum, Sudan.
Abdelmohaymin A AbdallaDaoud Research Group, Khartoum, Sudan.
Musab I MohammedDaoud Research Group, Khartoum, Sudan.
Mona EllaithiAhfad University for Women, Omdurman, Sudan.
Muzamil Mahdi Abdel HamidInstitute of Endemic Diseases, University of Khartoum, Khartoum, Sudan.
Mohamed Ahmed Salih HassanDepartment of Bioinformatics, Africa City of Technology, Sudan University of Medical Science and Technology, Khartoum, Sudan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundBreast cancer (BC) is the most common type of cancer in women. Among many risk factors of BC, mutations in BRCA2 gene were found to be the primary cause in 5-10% of cases. The majority of deleterious mutations are frameshift or nonsense mutations. Most of the reported BRCA2 mutations are protein truncating mutations.

methodsThe study aimed to describe the pattern of mutations including single nucleotide polymorphisms (SNPs) and variants of the BRCA2 (exon11) gene among Sudanese women patients diagnosed with BC. In this study a specific region of BRCA2 exon 11 was targeted using PCR and DNA sequencing.

resultsEarly onset cases 25/45 (55.6%) were premenopausal women with a mean age of 36.6 years. Multiparity was more frequent within the study amounting to 30 cases (66.6%), with a mean parity of 4.1. Ductal type tumor was the predominant type detected in 22 cases (48.8%) among the reported histotypes. A heterozygous monoallelic nonsense mutation at nucleotide 3385 was found in four patients out of 9, where TTA codon was converted into the stop codon TGA.

conclusionThis study detected a monoallelic nonsense mutation in four Sudanese female patients diagnosed with early onset BC from different families. Further work is needed to demonstrate its usefulness in screening of BC.

Indexed as

AllelesPolymorphism, Single NucleotideAdultAgedAged, 80 and overAmino Acid SequenceBase SequenceBRCA2 ProteinBreast NeoplasmsCase-Control StudiesCodon, NonsenseExonsFemaleHeterozygoteHumansMiddle AgedBRCA2 ProteinBRCA2 protein, humanCodon, NonsenseBRCA2Breast cancerHeterozygousMonoallelicStop CodonSudanese patients

Identifiers

PMID28814288
PMCPMC5559773

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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.