Evidence map›Paper›PMID 36065483›Full record

ArticleCancer science2022

Association between germline pathogenic variants in cancer-predisposing genes and lymphoma risk.

Yoshiaki Usui, Yusuke Iwasaki, Keitaro Matsuo, Mikiko Endo, Yoichiro Kamatani, Makoto Hirata, Kokichi Sugano, Teruhiko Yoshida, Koichi Matsuda, Yoshinori Murakami and 3 more

Open access · goldAbstract read
In one paragraph

Article in Cancer science, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
1.4field-weighted citation impact, top 18% 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

11 citing papers in PubMed, 15 citations in OpenAlex.

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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

13 authors at 7 institutions in 1 country.

Yoshiaki UsuiLaboratory for Genotyping Development, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.ORCID https://orcid.org/0000-0001-6180-0704
Yusuke IwasakiLaboratory for Genotyping Development, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
Keitaro MatsuoDivision of Cancer Epidemiology and Prevention, Department of Preventive Medicine, Aichi Cancer Center, Nagoya, Japan.ORCID https://orcid.org/0000-0003-1761-6314
Mikiko EndoLaboratory for Genotyping Development, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
Yoichiro KamataniLaboratory of Complex Trait Genomics, Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Tokyo, Japan.
Makoto HirataDepartment of Genetic Medicine and Services, National Cancer Center Hospital, Tokyo, Japan.
Kokichi SuganoDepartment of Genetic Medicine and Services, National Cancer Center Hospital, Tokyo, Japan.
Teruhiko YoshidaDepartment of Genetic Medicine and Services, National Cancer Center Hospital, Tokyo, Japan.
Koichi MatsudaLaboratory of Clinical Genome Sequencing, Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Tokyo, Japan.
Yoshinori MurakamiDivision of Molecular Pathology, Department of Cancer Biology, Institute of Medical Science, The University of Tokyo, Tokyo, Japan.ORCID https://orcid.org/0000-0002-2826-4396
Yoshinobu MaedaDepartment of Hematology, Oncology and Respiratory Medicine, Okayama University Graduate School of Medicine, Dentistry and Pharmaceuticals Sciences, Okayama, Japan.
Hidewaki NakagawaLaboratory for Cancer Genomics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.ORCID https://orcid.org/0000-0003-1807-772X
Yukihide MomozawaLaboratory for Genotyping Development, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.ORCID https://orcid.org/0000-0001-5638-3504
RIKEN Center for Integrative Medical Sciences · JPOkayama University · JPThe University of Tokyo · JPTokyo Medical University · JPAichi Cancer Center · JPNational Cancer Center Hospital East · JPSasaki Institute · JP

Funding

Japan Agency for Medical Research and Development (AMED) JP19kk0305010
6 · The paper itself

Abstract

The application of advanced molecular technology has significantly expanded lymphoma classification, allowing risk stratification and treatment optimization. Limited evidence suggests the presence of a genetic predisposition in lymphoma, indicating the potential for better individualized clinical management based on a novel lymphoma classification. Herein, we examined the impact of germline pathogenic variants in 27 cancer-predisposing genes with lymphoma risk and explored the clinical characteristics of pathogenic variant carriers. This study included 2,066 lymphoma patients and 38,153 cancer-free controls from the Japanese population. Following quality control of sequencing data, samples from 1,982 lymphoma patients and 37,592 controls were further analyzed. We identified 309 pathogenic variants among 4,850 variants in the 27 cancer-predisposing genes. Pathogenic variants in the following four cancer-predisposing genes were associated with a high risk of lymphoma: ATM (odds ratio [OR], 2.63; 95% confidence interval [CI], 1.25-5.51; p = 1.06 × 10

Indexed as

Breast NeoplasmsLymphomaAdultFemaleGenetic Predisposition to DiseaseGerm CellsGerm-Line MutationHeterozygoteHumanscancer-predisposing genecase-control studygermline pathogenic variantlymphomamantle cell lymphoma

Identifiers

PMID36065483
PMCPMC9633290
OpenAlexW4294751564

What OpenQuestion holds

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LicenceCC BY-NC
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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.