Evidence map›Paper›PMID 41457435›Full record

ArticleCancer2026

Frequency and face validity of reported family history of cancer in first-degree relatives and genetic syndromes among children with cancer in Project:EveryChild: A report from the Children's Oncology Group.

Noemi A Fuentes Bolanos, Philip J Lupo, Katherine M Tucker, Douglas S Hawkins, Christopher C Porter, Anita Villani, Logan G Spector

Abstract readValidation Study
In one paragraph

Article in Cancer, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

7 authors.

Noemi A Fuentes BolanosKids Cancer Centre, Sydney Children's Hospital, Sydney, New South Wales, Australia.
Philip J LupoDepartment of Pediatrics, Emory University School of Medicine, Atlanta, Georgia, USA.
Katherine M TuckerKids Cancer Centre, Sydney Children's Hospital, Sydney, New South Wales, Australia.
Douglas S HawkinsDivision of Hematology/Oncology, Seattle Children's Hospital and University of Washington, Seattle, Washington, USA.ORCID https://orcid.org/0000-0003-3602-1375
Christopher C PorterDepartment of Pediatrics, Emory University School of Medicine, Atlanta, Georgia, USA.
Anita VillaniDivision of Hematology/Oncology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
Logan G SpectorDivision of Epidemiology/Clinical Research, Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota, USA.

Funding

NCTN BIQSFP ANBL1531 (NRT)U10CA180886 · NCI · PUBLIC HEALTH INSTITUTE · PI Douglas S. Hawkins · 2014 to 2026
$390.6M
COG SDMC - Statistics CoreU10CA180899 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI TODD A ALONZO · 2014 to 2026
$132.8M
NCI NIH HHS U10 CA180886NCI NIH HHS U10 CA180899NCTN Operations Center Grant U10CA180886NCTN Statistics and Data Center Grant U10CA180899St. Baldrick's Foundation
6 · The paper itself

Abstract

backgroundTaking a family history of cancer (FH) is essential for identifying individuals with heritable cancer predisposition. PROJECT: EveryChild (Children's Oncology Group [COG] trial APEC14B1), the registration and biobanking protocol of the COG, includes suggested questions about FH in first-degree relatives and personal history of genetic syndromes (GS) in pediatric oncology patients. The validity of these items is unclear; therefore, the authors assessed the data quality and face validity of the responses.

methodsThe authors analyzed case report forms regarding FH and GS of 30,157 participants (aged birth to 21 years) with newly diagnosed pediatric cancer enrolled in APEC14B1. FH and GS data were manually curated to interpret the responses and group them into categories, followed by face validity assessment-defined as the extent to which the information provided represented what it was intended to capture.

resultsResponses were provided for 65.7% of participants (n = 19,810), with 6.1% reporting FH (n = 1204). Of those, 97.9% (n = 1178) included sufficient free-text detail to assess face validity, although 49.4% required manual interpretation. Among FH reports, 48.3% (n = 595) were suggestive of heritable cancer risk. GS was reported in 4.3% of responders (n = 863), with 93.3% (n = 780) showing face validity after curation. Down syndrome (n = 302) and neurofibromatosis type 1 (n = 93) were the most frequently reported syndromes, with neurofibromatosis type 1 most common in patients who had central nervous system tumors.

conclusionsDespite limitations and the need for manual curation, FH and GS data collected by using proposed questions were sufficient to identify known heritable cancer patterns. These findings support questionnaire-based data collection and highlight areas for improvement.

Indexed as

Genetic Predisposition to DiseaseMedical History TakingNeoplasmsAdolescentAdultChildChild, PreschoolFamilyFemaleHumansInfantInfant, NewbornMaleReproducibility of ResultsYoung Adultcancer predispositionchildhood cancerfamily historygenetic syndrome

Identifiers

PMID41457435
PMCPMC13242624

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