Evidence map›Paper›PMID 32901360›Full record

ArticleMolecular biology reports2020

Identification of novel candidate genes by exome sequencing in Tunisian familial male breast cancer patients.

Wala Ben Kridis-Rejeb, Dorra Ben Ayed-Guerfali, Nihel Ammous-Boukhris, Wajdi Ayadi, Chamseddine Kifagi, Slim Charfi, Ines Saguem, Tahia Sellami-Boudawara, Jamel Daoud, Afef Khanfir and 1 more

Abstract read
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In one paragraph

Article in Molecular biology reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Review
  3. Article
  4. Identification of Eleven NovelFrontiers in oncology · 2021
    Article
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

11 authors.

Wala Ben Kridis-RejebDepartment of Oncology, Habib Bourguiba Hospital, University of Sfax, Sfax, Tunisia.
Dorra Ben Ayed-GuerfaliCenter of Biotechnology of Sfax, University of Sfax, Sidi Mansour Street Km 6, BP 1177, 3038, Sfax, Tunisia.
Nihel Ammous-BoukhrisCenter of Biotechnology of Sfax, University of Sfax, Sidi Mansour Street Km 6, BP 1177, 3038, Sfax, Tunisia.
Wajdi AyadiCenter of Biotechnology of Sfax, University of Sfax, Sidi Mansour Street Km 6, BP 1177, 3038, Sfax, Tunisia.
Chamseddine KifagiDivision of Immunology & Vaccinology, DTU Nanotech, Department of Micro-and Nanotechnology, Kemitorvet, Buildings 202 and 204, Lyngby Campus, 2800, Kgs. Lyngby, Denmark.
Slim CharfiDepartment of Anatomo-Pathology, Habib Bourguiba Hospital, University of Sfax, Sfax, Tunisia.
Ines SaguemDepartment of Anatomo-Pathology, Habib Bourguiba Hospital, University of Sfax, Sfax, Tunisia.
Tahia Sellami-BoudawaraDepartment of Anatomo-Pathology, Habib Bourguiba Hospital, University of Sfax, Sfax, Tunisia.
Jamel DaoudDepartment of Radiotherapy, Habib Bourguiba Hospital, University of Sfax, Sfax, Tunisia.
Afef KhanfirDepartment of Oncology, Habib Bourguiba Hospital, University of Sfax, Sfax, Tunisia.
Raja Mokdad-GargouriCenter of Biotechnology of Sfax, University of Sfax, Sidi Mansour Street Km 6, BP 1177, 3038, Sfax, Tunisia. raja.gargouri@cbs.rnrt.tn.ORCID http://orcid.org/0000-0003-1319-0061

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Male Breast Cancer (MBC) is a rare and aggressive disease that is associated with genetic factors. Mutations in BRCA1 and BRCA2 account for 10% of all MBC cases suggesting that other genetic factors are involved. The aim of the present study is to screen whole BRCA1 and BRCA2 exons using the Ampliseq BRCA panel in Tunisian MBC patients with family history. Furthermore, we performed exome sequencing using the TruSight One sequencing panel on an early onset BRCA negative patient. We showed that among the 6 MBC patients, only one (MBC-F1) harbored a novel frameshift mutation in exon 2 of the BRCA2 gene (c.17-20delAAGA, p.Lys6Xfs) resulting in a short BRCA2 protein of only 6 amino-acids. We selected 9 rare variants after applying several filter steps on the exome sequencing data. Among these variants, and based on their role in breast carcinogenesis, we retained 6 candidate genes (MSH5, DCC, ERBB3, NOTCH3, DIAPH1, and DNAH11). Further studies are needed to confirm the association of the selected genes with family MBC.

Indexed as

Genetic Predisposition to DiseaseAdultAgedAxonemal DyneinsBRCA1 ProteinBRCA2 ProteinBreast Neoplasms, MaleCell Cycle ProteinsDCC ReceptorExome SequencingForminsFrameshift MutationGene Expression Regulation, NeoplasticHumansMaleMiddle AgedAxonemal DyneinsBRCA1 ProteinBRCA2 ProteinBRCA2 protein, humanCell Cycle ProteinsDCC protein, humanDCC ReceptorDIAPH1 protein, humanDNAH11 protein, humanERBB3 protein, humanForminsMSH5 protein, humanNOTCH3 protein, humanReceptor, ErbB-3Receptor, Notch3BRCA1BRCA2Candidate genesMale breast cancerNext generation sequencingPanel-based exome sequencing

Identifiers

PMID32901360

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.