Evidence map›Paper›PMID 29346284›Full record

ArticleInternational journal of molecular sciences2018

Double Heterozygosity for BRCA1 Pathogenic Variant and BRCA2 Polymorphic Stop Codon K3326X: A Case Report in a Southern Italian Family.

Raffaele Palmirotta, Domenica Lovero, Luigia Stefania Stucci, Erica Silvestris, Davide Quaresmini, Angela Cardascia, Franco Silvestris

Abstract readCase Reports
In one paragraph

Article in International journal of molecular sciences, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.

0numbers the graph read from it
0cells of the map it votes in
15citing 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

15 citing papers in PubMed.

  1. Article
  2. Double heterozygosity forBMJ case reports · 2025
    Article
  3. Case Report: Clinical impact ofFrontiers in oncology · 2025
    Article
  4. Article
  5. Article
  6. Double Heterozygous Mutations in theBreast care (Basel, Switzerland) · 2021
    Article
  7. Article
  8. Article
  9. Article
  10. Review
  11. Article
  12. Review
  13. Pathogenic Germline DNA Repair Gene andJCO precision oncology · 2020
    Article
  14. Review
  15. 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

7 authors.

Raffaele PalmirottaDepartment of Biomedical Sciences and Human Oncology, University of Bari Aldo Moro, 70124 Bari, Italy. raffaelepalmirotta@gmail.com.
Domenica LoveroDepartment of Biomedical Sciences and Human Oncology, University of Bari Aldo Moro, 70124 Bari, Italy. dom.lovero@gmail.com.
Luigia Stefania StucciDepartment of Biomedical Sciences and Human Oncology, University of Bari Aldo Moro, 70124 Bari, Italy. stuccistefania@gmail.com.
Erica SilvestrisDepartment of Biomedical Sciences and Human Oncology, University of Bari Aldo Moro, 70124 Bari, Italy. ericasilvestris85@gmail.com.
Davide QuaresminiDepartment of Biomedical Sciences and Human Oncology, University of Bari Aldo Moro, 70124 Bari, Italy. davide.quaresmini@hotmail.it.
Angela CardasciaDepartment of Biomedical Sciences and Human Oncology, University of Bari Aldo Moro, 70124 Bari, Italy. angelcard@hotmail.it.
Franco SilvestrisDepartment of Biomedical Sciences and Human Oncology, University of Bari Aldo Moro, 70124 Bari, Italy. francesco.silvestris@uniba.it.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Here, we describe a patient with bilateral breast cancer and melanoma, and with a concomitant double variant, namely p.Gln563Ter in

Indexed as

AgedBRCA1 ProteinBRCA2 ProteinBreast NeoplasmsCodon, TerminatorDNA Mutational AnalysisFemaleGenetic CounselingHeterozygoteHumansItalyPedigreePolymorphism, Single NucleotideWhite PeopleBRCA1 ProteinBRCA1 protein, humanBRCA2 ProteinBRCA2 protein, humanCodon, Terminatorage of onsetBRCA1/BRCA2double heterozygosityK3326Xmutational analysis

Identifiers

PMID29346284
PMCPMC5796231

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.