Evidence map›Paper›PMID 37319387›Full record

ArticleJournal of clinical oncology : official journal of the American Society of Clinical Oncology2023

Clinical Multigene Panel Testing Identifies Racial and Ethnic Differences in Germline Pathogenic Variants Among Patients With Early-Onset Colorectal Cancer.

Hannah M Seagle, Samantha R Keller, Sean V Tavtigian, Carolyn Horton, Andreana N Holowatyj

Open access · greenAbstract read
In one paragraph

Article in Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
22citing papers in PubMed, 2 pooled it
4.6field-weighted citation impact, top 5% 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

22 citing papers in PubMed, 2 syntheses or guidelines pooled it, 18 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Review
  4. Observational
  5. The Landscape of Genomic and Socioeconomic Variables in Patients with Colorectal Cancer Based on Genetic Ancestry.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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  14. Early-Onset Colorectal Cancer: From Genetic Discovery to Clinical Innovation.American Society of Clinical Oncology educational book. American Society of Clinical Oncology. Annual Meeting · 2025
    Review
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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

5 authors at 3 institutions in 1 country.

Hannah M SeagleDepartment of Medicine, Vanderbilt University Medical Center, Nashville, TN.ORCID 0000-0002-3834-4357
Samantha R KellerDepartment of Medicine, Vanderbilt University Medical Center, Nashville, TN.ORCID 0000-0002-0859-9068
Sean V TavtigianDepartment of Oncological Sciences, University of Utah, Salt Lake City, UT.ORCID 0000-0002-7543-8221
Carolyn HortonDepartment of Clinical Diagnostics, Ambry Genetics, Aliso Viejo, CA.ORCID 0000-0001-5186-6208
Andreana N HolowatyjDepartment of Medicine, Vanderbilt University Medical Center, Nashville, TN.ORCID 0000-0001-8001-8793
Vanderbilt University · USAmbry Genetics (United States) · USUniversity of Utah · US

Funding

Vanderbilt-Ingram Cancer Center SPORE in Gastrointestinal CancerP50CA236733 · NCI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI MARY Kay WASHINGTON · 2019 to 2026
$19.6M
Building Interdisciplinary Research Careers in Women's HealthK12HD043483 · NICHD · VANDERBILT UNIVERSITY MEDICAL CENTER · PI HARTMANN, KATHERINE E, MAJOR, AMY S · 2002 to 2023
$10.3M
Training Program in Genomic MedicineT32HG008962 · NHGRI · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI Lynn Jorde, Aaron R Quinlan · 2016 to 2026
$3.0M
Building Interdisciplinary Research Careers in Women's HealthK12AR084232 · NIAMS · VANDERBILT UNIVERSITY MEDICAL CENTER · PI AMY S MAJOR, Digna R Velez Edwards · 2023 to 2026
$1.3M
NCI NIH HHS P50 CA236733NHGRI NIH HHS T32 HG008962NIAMS NIH HHS K12 AR084232NICHD NIH HHS K12 HD043483
6 · The paper itself

Abstract

purposeThe early-onset colorectal cancer (EOCRC) burden differs across racial/ethnic groups, yet the role of germline genetic predisposition in EOCRC disparities remains uncharacterized. We defined the prevalence and spectrum of inherited colorectal cancer (CRC) susceptibility gene variations among patients with EOCRC by race and ethnicity. PATIENTS AND

methodsWe included individuals diagnosed with a first primary CRC between age 15 and 49 years who identified as Ashkenazi Jewish, Asian, Black, Hispanic, or White and underwent germline genetic testing of 14 CRC susceptibility genes performed by a clinical testing laboratory. Variant comparisons by racial and ethnic groups were evaluated using chi-square tests and multivariable logistic regression adjusted for sex, age, CRC site, and number of primary colorectal tumors.

resultsAmong 3,980 patients with EOCRC, a total of 530 germline pathogenic or likely pathogenic variants were identified in 485 individuals (12.2%). By race/ethnicity, 12.7% of Ashkenazim patients, 9.5% of Asian patients, 10.3% of Black patients, 14.0% of Hispanic patients, and 12.4% of White patients carried a germline variant. The prevalence of Lynch syndrome (

conclusionGermline genetic features differed by race/ethnicity in young patients with CRC, suggesting that current multigene panel tests may not be representative of EOCRC risk in diverse populations. Further study is needed to optimize genes selected for genetic testing in EOCRC via ancestry-specific gene and variant discovery to yield equitable clinical benefits for all patients and to mitigate inequities in disease burden.

Indexed as

Colorectal NeoplasmsColorectal Neoplasms, Hereditary NonpolyposisAdolescentAdultGenetic Predisposition to DiseaseGenetic TestingGerm-Line MutationHumansMiddle AgedYoung Adult

Identifiers

PMID37319387
PMCPMC10852379
OpenAlexW4380740743

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.