Evidence map›Paper›PMID 36370464›Full record

ArticleJCO precision oncology2022

Multigene Panel Testing Yields High Rates of Clinically Actionable Variants Among Patients With Colorectal Cancer.

Sarah E Coughlin, Brandie Heald, Dana Farengo Clark, Sarah M Nielsen, Kathryn E Hatchell, Edward D Esplin, Bryson W Katona

Open access · hybridAbstract read
In one paragraph

Article in JCO precision oncology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.

0numbers the graph read from it
0cells of the map it votes in
23citing papers in PubMed
6.0field-weighted citation impact, top 3% 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

23 citing papers in PubMed, 43 citations in OpenAlex.

  1. Review
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  6. Black-White disparities across the colorectal cancer care continuum in the USA.Nature reviews. Gastroenterology & hepatology · 2025
    Review
  7. 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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  15. TGFβ in Pancreas and Colorectal Cancer: Opportunities to Overcome Therapeutic Resistance.Clinical cancer research : an official journal of the American Association for Cancer Research · 2024
    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

7 authors at 2 institutions in 1 country.

Sarah E CoughlinUniversity of Pennsylvania Perelman School of Medicine, Philadelphia, PA.ORCID 0000-0002-6993-8430
Brandie HealdInvitae, San Francisco, CA.ORCID 0000-0003-4227-3675
Dana Farengo ClarkUniversity of Pennsylvania Perelman School of Medicine, Philadelphia, PA.
Sarah M NielsenInvitae, San Francisco, CA.ORCID 0000-0002-5916-6393
Kathryn E HatchellInvitae, San Francisco, CA.ORCID 0000-0003-0849-7018
Edward D EsplinInvitae, San Francisco, CA.ORCID 0000-0001-9205-3756
Bryson W KatonaUniversity of Pennsylvania Perelman School of Medicine, Philadelphia, PA.ORCID 0000-0001-8186-9119
Invitae (United States) · USUniversity of Pennsylvania · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeWhether germline multigene panel testing (MGPT) should be performed in all individuals with colorectal cancer (CRC) remains uncertain. Therefore, we aimed to determine the yield and potential clinical impact of MGPT across a large, diverse CRC cohort.

methodsThis was a retrospective cohort study of adults with CRC who underwent MGPT of > 10 genes at a commercial laboratory between March 2015 and May 2021. All data were prospectively collected through a single commercial laboratory and retrospectively analyzed.

resultsA total of 34,244 individuals with a history of CRC underwent germline MPGT and were included in the analysis. This cohort was predominantly female (60.7%), White (70.6%), and age 50 years or older (68.9%), with 35.5% also reporting a noncolorectal malignancy. At least one pathogenic/likely pathogenic germline variant (PGV) was found in 4,864 (14.2%), with 3,111 (9.1%) having a PGV associated with increased CRC/polyposis risk and 1,048 (3.1%) having an otherwise clinically actionable PGV. Larger gene panels were not clearly associated with higher yield of clinically actionable PGVs. PGVs were more prevalent in individuals of Ashkenazi Jewish descent (

conclusionTo our knowledge, this is the largest study to date examining MGPT in CRC, demonstrating high rates of clinically actionable variants detected across all age groups, panel sizes, and racial/ethnic groups. This work supports consideration of broadening germline genetic testing criteria for individuals with CRC.

Indexed as

Colorectal NeoplasmsGenetic TestingAdultAsian PeopleEthnicityFemaleHumansMaleMiddle AgedRetrospective Studies

Identifiers

PMID36370464
PMCPMC9812641
OpenAlexW4309073115

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.