Evidence map›Paper›PMID 27838800›Full record

ArticleFamilial cancer2017

Double germline mutations in APC and BRCA2 in an individual with a pancreatic tumor.

Caroline Goehringer, Christian Sutter, Matthias Kloor, Johannes Gebert, Emily P Slater, Monika Keller, Irmgard Treiber, Petra Ganschow, Martina Kadmon, Ute Moog

Abstract readCase Reports
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In one paragraph

Article in Familial cancer, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.2field-weighted citation impact, top 38% 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

5 citing papers in PubMed, 7 citations in OpenAlex.

  1. Article
  2. 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

10 authors at 4 institutions in 1 country.

Caroline GoehringerInstitute of Human Genetics, Heidelberg University, Im Neuenheimer Feld 440, 69120, Heidelberg, Germany. caroline.goehringer@med.uni-heidelberg.de.
Christian SutterInstitute of Human Genetics, Heidelberg University, Im Neuenheimer Feld 440, 69120, Heidelberg, Germany.
Matthias KloorDepartment of Applied Tumor Biology, Institute of Pathology, Heidelberg University, Im Neuenheimer Feld 220/221, 69120, Heidelberg, Germany.
Johannes GebertDepartment of Applied Tumor Biology, Institute of Pathology, Heidelberg University, Im Neuenheimer Feld 220/221, 69120, Heidelberg, Germany.
Emily P SlaterDepartment of Surgery, Philipps-University Marburg, Baldingerstraße, 35043, Marburg, Germany.
Monika KellerDepartment of Psychosomatic and General Clinical Medicine, Heidelberg University, Im Neuenheimer Feld 410, 69120, Heidelberg, Germany.
Irmgard TreiberDepartment of General Surgery, Heidelberg University, Im Neuenheimer Feld 110, 69120, Heidelberg, Germany.
Petra GanschowDepartment of General, Visceral, Transplantation, Vascular and Thoracic Surgery, Hospital of the University of Munich, Marchioninistraße 15, 81377, Munich, Germany.
Martina KadmonFaculty of Medicine and Health Sciences, University of Oldenburg, Carl-von-Ossietzky-Str. 9-11, 26129, Oldenburg, Germany.
Ute MoogInstitute of Human Genetics, Heidelberg University, Im Neuenheimer Feld 440, 69120, Heidelberg, Germany.
Heidelberg University · DECarl von Ossietzky Universität Oldenburg · DEMünchen Klinik · DEPhilipps University of Marburg · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We report on three brothers affected by pancreatic tumors, all due to different causes, including mutations associated with two different cancer predisposition syndromes in the same individual. In the index patient a germline mutation both in the APC and BRCA2 gene was identified while one affected brother showed the BRCA2 mutation only and another brother is supposed to have developed pancreatic cancer due to multiple non-genetic risk factors. We outline the impact of a double germline mutation in two tumor predisposition genes in one individual and proven heterogeneity of multiple cases of pancreatic tumors in one family. With the growing implementation of next generation sequence based panel testing for multiple genes involved in tumor predisposition syndromes, relevant variants in two (or more) genes will be found more frequently. This family illustrates the importance of family studies, especially when using gene panel tests.

Indexed as

Genes, BRCA2AdenocarcinomaAdenomaAdenomatous Polyposis ColiAdultAgedBRCA2 ProteinBreast NeoplasmsCholangiopancreatography, Endoscopic RetrogradeColorectal NeoplasmsDuodenal NeoplasmsEsophageal NeoplasmsFatal OutcomeFemaleGenetic CounselingGenetic Predisposition to DiseaseBRCA2 ProteinBRCA2 protein, humanAPC geneBRCA2 geneDouble germline mutationFamilial adenomatous polyposisFamilial pancreatic cancerHereditary breast and ovarian cancer syndromeHereditary pancreatic cancerPancreatic cancerTumor disposition syndrome

Identifiers

PMID27838800
OpenAlexW2556099037

What OpenQuestion holds

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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.