Evidence map›Paper›PMID 26628864›Full record

ArticleCurrent oncology (Toronto, Ont.)2015

Using a family history questionnaire to identify adult patients with increased genetic risk for sarcoma.

A Schiavi, J Lavigne, R Turcotte, L Kasprzak, N Dumas, G Chong, C Freeman, M Alameldin, P Galiatsatos, L Palma and 1 more

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

Article in Current oncology (Toronto, Ont.), 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed, 2 pooled it
0.3field-weighted citation impact, top 39% 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

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

  1. Pooled it
  2. Family history tools for primary care: A systematic review.The European journal of general practice · 2022
    Pooled it
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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

11 authors at 3 institutions in 1 country.

A SchiaviDepartment of Medical Genetics, McGill University Health Centre, McGill University, Montreal, QC;
J LavigneDepartment of Surgery, McGill University, Montreal, QC;
R TurcotteDepartment of Oncology, McGill University, Montreal, QC; ; Department of Surgery, McGill University, Montreal, QC; ; Department of Orthopedics, McGill University, Montreal, QC;
L KasprzakDepartment of Medical Genetics, McGill University Health Centre, McGill University, Montreal, QC;
N DumasCentre hospitalier de l'Université de Montréal, Montreal, QC;
G ChongDepartment of Human Genetics, McGill University, Montreal, QC; ; Department of Pathology, McGill University, Montreal, QC;
C FreemanDepartment of Oncology, McGill University, Montreal, QC; ; Department of Pediatrics, McGill University, Montreal, QC;
M AlameldinDepartment of Pathology, McGill University, Montreal, QC;
P GaliatsatosDepartment of Oncology, McGill University, Montreal, QC; ; Department of Medicine, McGill University, Montreal, QC.
L PalmaDepartment of Medical Genetics, McGill University Health Centre, McGill University, Montreal, QC;
W D FoulkesDepartment of Medical Genetics, McGill University Health Centre, McGill University, Montreal, QC; ; Department of Oncology, McGill University, Montreal, QC; ; Department of Human Genetics, McGill University, Montreal, QC; ; Department of Medicine, McGill University, Montreal, QC.
McGill University · CAMcGill University Health Centre · CACentre Hospitalier de l’Université de Montréal · CA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundSarcomas in adults can be associated with hereditary cancer syndromes characterized by early-onset predisposition to numerous types of cancer. Because of variability in familial presentation and the largely unexplained genetic basis of sarcomas, ascertainment of patients for whom a genetics evaluation is most indicated poses challenges. We assessed the utility of a Sarcoma Clinic Genetic Screening (scgs) questionnaire in facilitating that task.

methodsBetween 2008 and 2012, 169 patients (median age: 53 years; range: 17-88 years) completed a self-administered scgs questionnaire. A retrospective chart review was completed for all respondents, and descriptive statistics were reported. Probands were divided into two groups depending on whether they did or did not report a family history of Li-Fraumeni syndrome-type cancers.

resultsA family history of cancer (as far as 3rd-degree relatives) was reported in 113 of 163 sarcoma patients (69%). Eeles Li-Fraumeni-like (lfl) criteria were fulfilled in 46 probands (28%), Chompret lfl in 21 (13%), Birch lfl in 8 (5%), and classic Li-Fraumeni in none. In the 10 probands tested for TP53 mutations, 1 pathogenic mutation was found. Further investigation of selected families led to the discovery of germline mutations in MLH1, MSH2, and APC genes in 3 individuals.

conclusionsThe scgs questionnaire was useful for ascertaining probands with sarcoma who could benefit from a genetic assessment. The tool allowed us to identify high-risk families fitting the criteria for lfl and, surprisingly, other hereditary cancer syndromes. Similar questionnaires could be used in other cancer-specific clinics to increase awareness of the genetic component of these cancers.

Indexed as

Chompret criteriagenetic screeningLi–Fraumeni–like syndromesLi–Fraumeni syndromeLynch syndromeSarcomaTP53 mutations

Identifiers

PMID26628864
PMCPMC4608397
OpenAlexW1748515212

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.