Evidence map›Paper›PMID 33077534›Full record

ArticleCMAJ open

Genetic testing in families with hereditary colorectal cancer in British Columbia and Yukon: a retrospective cross-sectional analysis.

Vivienne K Beard, Angela C Bedard, Jennifer Nuk, Petra W C Lee, Quan Hong, James E J Bedard, Sophie Sun, Kasmintan A Schrader

Open access · diamondAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in CMAJ open. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed, 1 pooled it
1.0field-weighted citation impact, top 24% 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

5 citing papers in PubMed, 1 synthesis or guideline pooled it, 9 citations in OpenAlex.

  1. Cascade Testing for Hereditary Cancer Syndromes: Should We Move Toward Direct Relative Contact? A Systematic Review and Meta-Analysis.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2022
    Pooled it
  2. Review
  3. Young-onset colorectal cancer.Nature reviews. Disease primers · 2023
    Review
  4. Article
  5. Article
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

8 authors at 3 institutions in 2 countries.

Vivienne K BeardDepartment of Biology (Beard, Lee, J.E.J. Bedard), University of the Fraser Valley, Abbotsford, BC; Hereditary Cancer Program (A.C. Bedard, Nuk, Hong, Sun, Schrader), BC Cancer; Division of Medical Oncology (Sun), University of British Columbia; Department of Molecular Oncology (Schrader), BC Cancer; Department of Medical Genetics (Schrader), University of British Columbia, Vancouver, BC.
Angela C BedardDepartment of Biology (Beard, Lee, J.E.J. Bedard), University of the Fraser Valley, Abbotsford, BC; Hereditary Cancer Program (A.C. Bedard, Nuk, Hong, Sun, Schrader), BC Cancer; Division of Medical Oncology (Sun), University of British Columbia; Department of Molecular Oncology (Schrader), BC Cancer; Department of Medical Genetics (Schrader), University of British Columbia, Vancouver, BC.
Jennifer NukDepartment of Biology (Beard, Lee, J.E.J. Bedard), University of the Fraser Valley, Abbotsford, BC; Hereditary Cancer Program (A.C. Bedard, Nuk, Hong, Sun, Schrader), BC Cancer; Division of Medical Oncology (Sun), University of British Columbia; Department of Molecular Oncology (Schrader), BC Cancer; Department of Medical Genetics (Schrader), University of British Columbia, Vancouver, BC.
Petra W C LeeDepartment of Biology (Beard, Lee, J.E.J. Bedard), University of the Fraser Valley, Abbotsford, BC; Hereditary Cancer Program (A.C. Bedard, Nuk, Hong, Sun, Schrader), BC Cancer; Division of Medical Oncology (Sun), University of British Columbia; Department of Molecular Oncology (Schrader), BC Cancer; Department of Medical Genetics (Schrader), University of British Columbia, Vancouver, BC.
Quan HongDepartment of Biology (Beard, Lee, J.E.J. Bedard), University of the Fraser Valley, Abbotsford, BC; Hereditary Cancer Program (A.C. Bedard, Nuk, Hong, Sun, Schrader), BC Cancer; Division of Medical Oncology (Sun), University of British Columbia; Department of Molecular Oncology (Schrader), BC Cancer; Department of Medical Genetics (Schrader), University of British Columbia, Vancouver, BC.
James E J BedardDepartment of Biology (Beard, Lee, J.E.J. Bedard), University of the Fraser Valley, Abbotsford, BC; Hereditary Cancer Program (A.C. Bedard, Nuk, Hong, Sun, Schrader), BC Cancer; Division of Medical Oncology (Sun), University of British Columbia; Department of Molecular Oncology (Schrader), BC Cancer; Department of Medical Genetics (Schrader), University of British Columbia, Vancouver, BC.
Sophie SunDepartment of Biology (Beard, Lee, J.E.J. Bedard), University of the Fraser Valley, Abbotsford, BC; Hereditary Cancer Program (A.C. Bedard, Nuk, Hong, Sun, Schrader), BC Cancer; Division of Medical Oncology (Sun), University of British Columbia; Department of Molecular Oncology (Schrader), BC Cancer; Department of Medical Genetics (Schrader), University of British Columbia, Vancouver, BC.
Kasmintan A SchraderDepartment of Biology (Beard, Lee, J.E.J. Bedard), University of the Fraser Valley, Abbotsford, BC; Hereditary Cancer Program (A.C. Bedard, Nuk, Hong, Sun, Schrader), BC Cancer; Division of Medical Oncology (Sun), University of British Columbia; Department of Molecular Oncology (Schrader), BC Cancer; Department of Medical Genetics (Schrader), University of British Columbia, Vancouver, BC ischrader@bccancer.bc.ca angela.bedard@bccancer.bc.ca.
University of British Columbia · CAUniversity of the Fraser Valley · CAMolecular Oncology (United States) · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundGenetic testing in families with hereditary cancer enables identification of people most likely to benefit from intensive screening and preventive measures; however, the uptake of testing in relatives (known as cascade carrier testing) for hereditary colorectal cancer syndromes has been shown to be low. Our objective was to report rates of familial testing for hereditary colorectal cancer syndromes in a publicly funded hereditary cancer clinic in Canada.

methodsA cross-sectional retrospective database review was used to determine testing uptake between 1997 and 2016 for families served by the provincial Hereditary Cancer Program for British Columbia and Yukon. Analyses were conducted for genes associated with syndromes with an increased risk for colorectal cancer, including Lynch syndrome (

resultsThe study cohort included 245 index patients, with carrier testing performed in 382 relatives. The mean age at family member testing was 41.2 years, and most (61.0%) of the family members who underwent testing were women. The median time between disclosure of index cases and their family member's results was 8.3 months. Among eligible first-degree relatives, 32.6% (268/821) underwent testing in BC. Of 67 cancer diagnoses in family members, most (62.7%) occurred before genetic testing.

interpretationA substantial proportion of people at risk for hereditary colorectal cancer do not undergo genetic testing. This gap highlights the need to explore barriers to testing and to consider interventions to promote uptake; more aggressive efforts by hereditary cancer programs are needed to reach this highest risk population.

Indexed as

Genetic Predisposition to DiseaseAdenomatous Polyposis ColiAdultAgedBritish ColumbiaColorectal Neoplasms, Hereditary NonpolyposisCross-Sectional StudiesDatabases, FactualFamilyFemaleGenetic TestingHumansMaleMiddle AgedRetrospective StudiesYoung Adult

Identifiers

PMID33077534
PMCPMC7588261
OpenAlexW3093102685

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.