Evidence map›Paper›PMID 31413764›Full record

ArticleHereditary cancer in clinical practice2019

Germline c.1A>C heterozygous pathogenic variant in

Sergio Carrera, Elena Beristain, Aintzane Sancho, Eluska Iruarrizaga, Pilar Rivero, Juan Manuel Mañe, Guillermo López Vivanco

Open access · goldAbstract readCase Reports
In one paragraph

Article in Hereditary cancer in clinical practice, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.7field-weighted citation impact, top 29% 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

4 citing papers in PubMed, 5 citations in OpenAlex.

  1. Article
  2. Genes · 2023
    Review
  3. A de novo start-loss inCold Spring Harbor molecular case studies · 2022
    Article
  4. Frontiers 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

7 authors at 2 institutions in 1 country.

Sergio Carrera1Hereditary Cancer Genetic Counseling Unit- Medical Oncology Department, Cruces University Hospital, Plaza de Cruces s/n., 48903 Baracaldo, Bizkaia Spain.ORCID 0000-0001-5321-5361
Elena BeristainMolecular Genetics Laboratory, Araba University Hospital, Vitoria, Spain.
Aintzane Sancho3Medical Oncology Department, Cruces University Hospital, Baracaldo, Spain.
Eluska Iruarrizaga3Medical Oncology Department, Cruces University Hospital, Baracaldo, Spain.
Pilar Rivero3Medical Oncology Department, Cruces University Hospital, Baracaldo, Spain.
Juan Manuel Mañe3Medical Oncology Department, Cruces University Hospital, Baracaldo, Spain.
Guillermo López Vivanco3Medical Oncology Department, Cruces University Hospital, Baracaldo, Spain.
Hospital de Cruces · ESHospital Universitario Araba · ES

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundGastrointestinal stromal tumors (GISTs) represent the most frequent mesenchymal tumor of the gastrointestinal tract. Less than 5% of them seem to be hereditary, being succinate dehydrogenase complex ( CASE PRESENTATION: We present a case of a 20 years old female diagnosed of a gastric WT GIST who developed hepatic metastases during her clinical course. No significant or typical phenotypic features suggestive of a specific syndrome were detected by physical examination. Also, her family history seemed to be irrelevant, since no other cases of GISTs, paragangliomas or pheochromocytomas were reported. Her paternal grandfather died as a consequence of a pituitary adenoma. In light of the age of tumor presentation and somatic features of gastric GIST, we performed genetic testing of

conclusionsTo the best of our knowledge, this is the first published report in which the c.1A > C; p.(Met1?) pathogenic variant in the

Indexed as

Cancer genetic counselingGISTHereditaryKITParagangliomaPDGFRαSDH

Identifiers

PMID31413764
PMCPMC6688230
OpenAlexW2967426862

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.