Evidence map›Paper›PMID 42586985›Full record

ArticleNature communications2026

Population-based genomic detection of childhood cancer predisposition using newborn dried blood spots.

Lisa Diller, Sara Cherkerzian, Abigail E Cinelli, David Housman, Riaz Gillani, Kayla V Hamilton, Jennifer M Yeh, Arindam Bhattacharjee, Richard B Parad

Abstract read
In one paragraph

Article in Nature communications, 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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0citing papers in PubMed
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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

9 authors.

Lisa DillerDepartment of Pediatric Oncology, Dana-Farber Cancer Center, Boston, MA, USA. Lisa_Diller@dfci.harvard.edu.ORCID http://orcid.org/0000-0002-4073-5509
Sara CherkerzianDepartment of Pediatrics, Harvard Medical School, Boston, MA, USA.
Abigail E CinelliDepartment of Pediatric Oncology, Dana-Farber Cancer Center, Boston, MA, USA.
David HousmanDepartment of Biology and Koch Institute for Integrative Biology, Massachusetts Institute of Technology, Cambridge, MA, USA.
Riaz GillaniDepartment of Pediatric Oncology, Dana-Farber Cancer Center, Boston, MA, USA.ORCID http://orcid.org/0000-0001-8643-2725
Kayla V HamiltonDepartment of Pediatric Oncology, Dana-Farber Cancer Center, Boston, MA, USA.
Jennifer M YehDepartment of Pediatrics, Boston Children's Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0002-2724-7404
Arindam Bhattacharjee *Department of Pediatrics, Harvard Medical School, Boston, MA, USA.
Richard B Parad *Department of Pediatrics, Harvard Medical School, Boston, MA, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Population-based genomic newborn screening identifying newborns at risk for early-onset cancers has not been evaluated. Here, within a Michigan birth cohort (1987-2020), we identify all children developing a solid or central nervous system malignancy by age 8 years (n = 1948). We perform targeted sequencing of 11 cancer predisposition genes using archived newborn dried blood spot DNA. We find pathogenic or likely-pathogenic germline variants (P/LP) in 6.8% of cases (n = 132): RB1 (n = 69), TP53 (n = 24), SMARCB1 (n = 8), WT1 (n = 7), RET (n = 6), SUFU (n = 6), PTCH1 (n = 4), DICER1 (n = 4), APC (n = 3) and PHOX2B (n = 1). We show approximately 1/27,000 newborns develop an early-onset malignancy with an associated pathogenic or likely-pathogenic variant. Germline variant prevalence is 100% in medullary thyroid carcinoma, 40% in retinoblastoma, and 11-30% across five additional diagnoses, with strong gene-tumor specificity (p < 0.001). P/LP variants are rare in comparison datasets from healthy newborns and gnomAD. Our data support newborn screening for selected cancer-risk genes.

Indexed as

Dried Blood Spot TestingGenetic Predisposition to DiseaseNeonatal ScreeningNeoplasmsChildChild, PreschoolFemaleGenomicsGerm-Line MutationHumansInfant, NewbornMale

Identifiers

PMID42586985
PMCPMC13470452

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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.