Evidence map›Paper›PMID 39802765›Full record

ArticlemedRxiv : the preprint server for health sciences2024

Genomic ascertainment to quantify prevalence and cancer risk in adults with pathogenic and likely pathogenic germline variants in RASopathy genes.

Jung Kim, Gina Ney, Megan N Frone, Jeremy S Haley, Uyenlinh L Mirshahi, Esteban Astiazaran-Symonds, Mariya Shandrina, Gretchen Urban, H Shanker Rao, Rick Stahl and 7 more

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in medRxiv : the preprint server for health sciences, 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

5 · Who and what money

Authors and funding

17 authors.

Jung KimClinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Rockville, MD, USA.ORCID 0000-0001-6274-2841
Gina NeyClinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Rockville, MD, USA.
Megan N FroneClinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Rockville, MD, USA.
Jeremy S HaleyDepartment of Genomic Health, Geisinger, Danville, PA, USA.
Uyenlinh L MirshahiDepartment of Genomic Health, Geisinger, Danville, PA, USA.ORCID 0000-0003-4972-5451
Esteban Astiazaran-SymondsDepartment of Medicine, College of Medicine-Tucson, University of Arizona, Tucson, AZ USA.
Mariya ShandrinaMindich Child Health and Development Institute and the Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Gretchen UrbanDepartment of Genomic Health, Geisinger, Danville, PA, USA.
H Shanker RaoDepartment of Genomic Health, Geisinger, Danville, PA, USA.
Rick StahlDepartment of Genomic Health, Geisinger, Danville, PA, USA.
Alicia GoldenDepartment of Genomic Health, Geisinger, Danville, PA, USA.
Marielle E YoheLaboratory of Cell and Developmental Signaling, Center for Cancer Research, National Cancer Institute, NIH, Bethesda, MD, USA.
Andrea M GrossPediatric Oncology Branch, National Cancer Institute, Center for Cancer Research, Bethesda, MD, USA.
Yi DingDepartment of Genomic Health, Geisinger, Danville, PA, USA.
David J CareyDepartment of Genomic Health, Geisinger, Danville, PA, USA.
Bruce D GelbMindich Child Health and Development Institute and the Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Douglas R StewartClinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Rockville, MD, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Purpose: Genomic ascertainment of electronic health record-linked exome data in two large biobanks was used to quantify germline pathogenic/likely pathogenic (P/LP) variant prevalence, cancer prevalence, and survival in adults with non- Patients and Methods: Germline RASopathy variants were examined from adult participants in UK Biobank (UKBB; n=469,802), Geisinger MyCode (n=167,050) and Mount Sinai Bio Results: Pathogenic variants in Noonan syndrome-associated genes (excluding known Noonan syndrome with multiple lentigines variants) were the most common with an estimated prevalence that ranged between 1:1,772-1:3,330 in the three cohorts. Pathogenic variants in cardiofaciocutaneous syndrome-associated genes had an estimated prevalence of 1:41,762-1:55,683 in two cohorts. Pathogenic variants in Conclusion: Genomic ascertainment from two large biobanks did not show evidence of elevated cancer risk in adult Noonan syndrome heterozygotes. There may be an increased cancer risk for adult

Indexed as

cancergenomic ascertainmentgermlineRASvariation

Identifiers

PMID39802765
PMCPMC11722494

What Socratic 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 Socratic graph.