Evidence map›Paper›PMID 39036705›Full record

ArticleBlood neoplasia2024

The landscape of rare genetic variants in familial Waldenström macroglobulinemia.

Alexander Pemov, Jung Kim, Wen Luo, Jia Liu, Cole Graham, Kristine Jones, Delphine DeMangel, Neal D Freedman, Charles Dumontet, Bin Zhu and 2 more

Abstract read
In one paragraph

Article in Blood neoplasia, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

12 authors.

Alexander PemovDivision of Cancer Epidemiology and Genetics, Clinical Genetics Branch, National Cancer Institute, Bethesda, MD.ORCID 0000-0003-3893-3685
Jung KimDivision of Cancer Epidemiology and Genetics, Clinical Genetics Branch, National Cancer Institute, Bethesda, MD.
Wen LuoDivision of Cancer Epidemiology and Genetics, Frederick National Laboratory for Cancer Research, National Cancer Institute, Rockville, MD.ORCID 0000-0002-3558-4136
Jia LiuDivision of Cancer Epidemiology and Genetics, Frederick National Laboratory for Cancer Research, National Cancer Institute, Rockville, MD.
Cole GrahamDivision of Cancer Epidemiology and Genetics, Clinical Genetics Branch, National Cancer Institute, Bethesda, MD.ORCID 0000-0003-3088-329X
Kristine JonesDivision of Cancer Epidemiology and Genetics, Frederick National Laboratory for Cancer Research, National Cancer Institute, Rockville, MD.
Delphine DeMangelDepartment of Hematology, Hospices Civils de Lyon, University of Lyon, Lyon, France.
Neal D FreedmanDivision of Cancer Epidemiology and Genetics, Metabolic Epidemiology Branch.ORCID 0000-0003-0074-1098
Charles DumontetDepartment of Hematology, Hospices Civils de Lyon, University of Lyon, Lyon, France.
Bin ZhuDivision of Cancer Epidemiology and Genetics, Biostatistics Branch, National Cancer Institute, Bethesda, MD.ORCID 0000-0003-0172-5516
Mary L McMasterDivision of Cancer Epidemiology and Genetics, Clinical Genetics Branch, National Cancer Institute, Bethesda, MD.ORCID 0000-0002-2208-9320
Douglas R StewartDivision of Cancer Epidemiology and Genetics, Clinical Genetics Branch, National Cancer Institute, Bethesda, MD.ORCID 0000-0001-8193-1488

Funding

Genetic Modifiers of Cancer RiskZIACP010142 · NCI · DIVISION OF CANCER EPIDEMIOLOGY AND GENETICS · PI MIRABELLO, LISA · 2009 to 2025
$17.1M
Intramural NIH HHS Z99 CA999999Intramural NIH HHS ZIA CP010142
6 · The paper itself

Abstract

Waldenström macroglobulinemia (WM) is a rare hematological malignancy. Risk for WM is elevated 20-fold among first-degree relatives of patients with WM. However, the list of variants and genes that cause WM remains incomplete. In this study we analyzed exomes from 64 WM pedigrees for evidence of genetic susceptibility for this malignancy. We determined the frequency of pathogenic (P) or likely pathogenic (LP) variants among patients with WM; performed variant- and gene-level association analyses with the set of 166 WM cases and 681 unaffected controls; and examined the segregation pattern of deleterious variants among affected members in each pedigree. We identified P/LP variants in

Identifiers

PMID39036705
PMCPMC11258892

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.