Evidence map›Paper›PMID 36611892›Full record

ArticleCells2022

Investigation of Rare Non-Coding Variants in Familial Multiple Myeloma.

Yasmeen Niazi, Nagarajan Paramasivam, Joanna Blocka, Abhishek Kumar, Stefanie Huhn, Matthias Schlesner, Niels Weinhold, Rolf Sijmons, Mirjam De Jong, Brian Durie and 3 more

Open access · goldAbstract read
In one paragraph

Article in Cells, 2022. 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
2.2field-weighted citation impact, top 10% 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, 14 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. 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

13 authors at 7 institutions in 5 countries.

Yasmeen NiaziHopp Children's Cancer Center (KiTZ), 69120 Heidelberg, Germany.ORCID 0000-0002-7560-2247
Nagarajan ParamasivamComputational Oncology, Molecular Precision Oncology Program, National Center for Tumor Diseases (NCT), 69120 Heidelberg, Germany.
Joanna BlockaDepartment of Internal Medicine V, University of Heidelberg, 69120 Heidelberg, Germany.
Abhishek KumarInstitute of Bioinformatics, International Technology Park, Bangalore 560066, India.
Stefanie HuhnDepartment of Internal Medicine V, University of Heidelberg, 69120 Heidelberg, Germany.
Matthias SchlesnerBioinformatics and Omics Data Analytics, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany.
Niels WeinholdDepartment of Internal Medicine V, University of Heidelberg, 69120 Heidelberg, Germany.
Rolf SijmonsUniversity Medical Center Groningen, University of Groningen, 9712 Groningen, The Netherlands.
Mirjam De JongUniversity Medical Center Groningen, University of Groningen, 9712 Groningen, The Netherlands.
Brian DurieCedars Sinai Cancer Center, Los Angeles, CA 90048, USA.
Hartmut GoldschmidtComputational Oncology, Molecular Precision Oncology Program, National Center for Tumor Diseases (NCT), 69120 Heidelberg, Germany.ORCID 0000-0003-0961-0035
Kari HemminkiDivision of Cancer Epidemiology, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany.ORCID 0000-0002-2769-3316
Asta FörstiHopp Children's Cancer Center (KiTZ), 69120 Heidelberg, Germany.ORCID 0000-0002-9857-4728
German Cancer Research Center · DEHeidelberg University · DEUniversity Medical Center Groningen · NLCedars-Sinai Medical Center · USHarvard University · USManipal Academy of Higher Education · INNational Center for Tumor Diseases · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Multiple myeloma (MM) is a plasma cell malignancy whereby a single clone of plasma cells over-propagates in the bone marrow, resulting in the increased production of monoclonal immunoglobulin. While the complex genetic architecture of MM is well characterized, much less is known about germline variants predisposing to MM. Genome-wide sequencing approaches in MM families have started to identify rare high-penetrance coding risk alleles. In addition, genome-wide association studies have discovered several common low-penetrance risk alleles, which are mainly located in the non-coding genome. Here, we further explored the genetic basis in familial MM within the non-coding genome in whole-genome sequencing data. We prioritized and characterized 150 upstream, 5' untranslated region (UTR) and 3' UTR variants from 14 MM families, including 20 top-scoring variants. These variants confirmed previously implicated biological pathways in MM development. Most importantly, protein network and pathway enrichment analyses also identified 10 genes involved in mitogen-activated protein kinase (MAPK) signaling pathways, which have previously been established as important MM pathways.

Indexed as

Genome-Wide Association StudyMultiple MyelomaGerm-Line MutationHumansMAP Kinase Signaling SystemWhole Genome Sequencingfamilial multiple myelomaMAPK pathwaynon-coding genomewhole-genome sequencing

Identifiers

PMID36611892
PMCPMC9818386
OpenAlexW4312205590

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.