Evidence map›Paper›PMID 26641009›Full record

ArticleCancer2016

Inherited mutations in cancer susceptibility genes are common among survivors of breast cancer who develop therapy-related leukemia.

Jane E Churpek, Rafael Marquez, Barbara Neistadt, Kimberly Claussen, Ming K Lee, Matthew M Churpek, Dezheng Huo, Howard Weiner, Mekhala Bannerjee, Lucy A Godley and 6 more

Open access · bronzeAbstract read
In one paragraph

Article in Cancer, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 84 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
84citing papers in PubMed, 3 pooled it
8.0field-weighted citation impact, top 2% 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

84 citing papers in PubMed, 3 syntheses or guidelines pooled it, 169 citations in OpenAlex.

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  3. Summary ofGenes · 2020
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  9. Impact of Germline CHEK2 Pathogenic Variants on the Risk of Acute Myeloid Leukemia and Myelodysplastic Syndrome.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2026
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24 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

16 authors at 4 institutions in 1 country.

Jane E ChurpekCenter for Clinical Cancer Genetics, The University of Chicago, Chicago, Illinois.
Rafael MarquezDepartment of Medicine, The University of Chicago, Chicago, Illinois.
Barbara NeistadtDepartment of Medicine, The University of Chicago, Chicago, Illinois.
Kimberly ClaussenDepartment of Medicine, The University of Chicago, Chicago, Illinois.
Ming K LeeDivision of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, Washington.
Matthew M ChurpekDepartment of Medicine, The University of Chicago, Chicago, Illinois.
Dezheng HuoDepartment of Health Studies, The University of Chicago, Chicago, Illinois.
Howard WeinerDepartment of Medicine, The University of Chicago, Chicago, Illinois.
Mekhala BannerjeeDepartment of Medicine, The University of Chicago, Chicago, Illinois.
Lucy A GodleyCenter for Clinical Cancer Genetics, The University of Chicago, Chicago, Illinois.
Michelle M Le BeauDepartment of Medicine, The University of Chicago, Chicago, Illinois.
Colin C PritchardDepartment of Laboratory Medicine, University of Washington, Seattle, Washington.
Tom WalshDivision of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, Washington.
Mary-Claire KingDivision of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, Washington.
Olufunmilayo I OlopadeCenter for Clinical Cancer Genetics, The University of Chicago, Chicago, Illinois.
Richard A LarsonDepartment of Medicine, The University of Chicago, Chicago, Illinois.
University of Chicago · USUniversity of Washington Medical Center · USCancer Genetics (United States) · USUniversity of Washington · US

Funding

VIRAL ONCOLOGY CORE FACILITYP30CA014599 · NCI · UNIVERSITY OF CHICAGO · PI MARK W. LINGEN · 1985 to 2026
$122.1M
Re-Engineering Translational Research at the University of ChicagoUL1TR000430 · NCATS · UNIVERSITY OF CHICAGO · PI SOLWAY, JULIAN · 2012 to 2016
$20.2M
UCCRC--ETIOLOGY OF TREATMENT-INDUCED SECONDARY LEUKEMIAP01CA040046 · NCI · UNIVERSITY OF CHICAGO · PI LARSON, RICHARD A · 1985 to 2012
$19.9M
Developing an Oncology Workforce for the 21st Century - Renewal 01K12CA139160 · NCI · UNIVERSITY OF CHICAGO · PI OLOPADE, OLUFUNMILAYO F., SMITH, SONALI · 2010 to 2024
$10.6M
GENOMIC ANALYSIS OF INHERITED BREAST AND OVARIAN CANCERR35CA197458 · NCI · UNIVERSITY OF WASHINGTON · PI KING, MARY-CLAIRE · 2015 to 2021
$6.4M
COMPLETE VARIANT PROFILING OF ALL KNOWN BREAST CANCER GENESR01CA175716 · NCI · UNIVERSITY OF WASHINGTON · PI KING, MARY-CLAIRE, WALSH, TOMAS D · 2013 to 2017
$3.1M
NCATS NIH HHS UL1 TR000430NCI NIH HHS K12 CA139160NCI NIH HHS P01 CA040046NCI NIH HHS P30 CA014599NCI NIH HHS R01 CA175716NCI NIH HHS R35 CA197458
6 · The paper itself

Abstract

backgroundRisk factors for the development of therapy-related leukemia (TRL), an often lethal late complication of cytotoxic therapy, remain poorly understood and may differ for survivors of different malignancies. Survivors of breast cancer (BC) now account for the majority of TRL cases, making the study of TRL risk factors in this population a priority.

methodsSubjects with TRL after cytotoxic therapy for a primary BC were identified from the TRL registry at The University of Chicago. Those with an available germline DNA sample were screened with a comprehensive gene panel covering known inherited BC susceptibility genes. Clinical and TRL characteristics of all subjects and those with identified germline mutations were described.

resultsNineteen of 88 survivors of BC with TRL (22%) had an additional primary cancer and 40 of the 70 survivors with an available family history (57%) had a close relative with breast, ovarian, or pancreatic cancer. Of the 47 subjects with available DNA, 10 (21%) were found to carry a deleterious inherited mutation in BRCA1 (3 subjects; 6%), BRCA2 (2 subjects; 4%), TP53 (tumor protein p53) (3 subjects; 6%), CHEK2 (checkpoint kinase 2) (1 subject; 2%), and PALB2 (partner and localizer of BRCA2) (1 subject; 2%).

conclusionsSurvivors of BC with TRL have personal and family histories suggestive of inherited cancer susceptibility and frequently carry germline mutations in BC susceptibility genes. The data from the current study support the role of these genes in TRL risk and suggest that long-term follow-up studies of women with germline mutations who are treated for BC and functional studies of the effects of heterozygous mutations in these genes on bone marrow function after cytotoxic exposures are warranted. Cancer 2016;122:304-311. © 2015 American Cancer Society.

Indexed as

AdultAgedAge FactorsAntineoplastic AgentsBreast NeoplasmsFemaleGenes, BRCA1Genes, BRCA2Genetic Predisposition to DiseaseGerm-Line MutationHumansLeukemia, Radiation-InducedMiddle AgedPrognosisRegistriesRetrospective StudiesAntineoplastic Agentsbreast cancerinheritedleukemiatherapy-related

Identifiers

PMID26641009
PMCPMC4707981
OpenAlexW2194177867

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.