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Current Oncology
Volume 22
Issue 5
10.3747/co.22.2588
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Current Oncology is published by MDPI from Volume 28 Issue 1 (2021). Previous articles were published by another publisher in Open Access under a CC-BY (or CC-BY-NC-ND) licence, and they are hosted by MDPI on mdpi.com as a courtesy and upon agreement with Multimed Inc..
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Article

Using a Family History Questionnaire to Identify Adult Patients with Increased Genetic Risk for Sarcoma

by
A. Schiavi
1,
J. Lavigne
2,
R. Turcotte
2,3,4,
L. Kasprzak
1,
N. Dumas
5,
G. Chong
6,7,
C. Freeman
4,8,
M. Alameldin
7,
P. Galiatsatos
4,9,
L. Palma
1 and
W.D. Foulkes
1,4,6,9,*
1
Department of Medical Genetics, McGill University Health Centre, McGi ll University, Montreal, QC, Canada
2
Department of Surgery, McGill University, Montreal, QC, Canada
3
Department of Orthopedics, McGill University, Montreal, QC, Canada
4
Department of Oncology, McGill University, Montreal, QC, Canada
5
Centre hospitalier de l’Université de Montréal, Montreal, QC, Canada
6
Department of Human Genetics, McGill University, Montreal, QC, Canada
7
Department of Pathology, McGill University, Montreal, QC, Canada
8
Department of Pediatrics, McGill University, Montreal, QC, Canada
9
Department of Medicine, McGill University, Montreal, QC, Canada
*
Author to whom correspondence should be addressed.
Curr. Oncol. 2015, 22(5), 317-325; https://doi.org/10.3747/co.22.2588
Submission received: 8 July 2015 / Revised: 7 August 2015 / Accepted: 2 September 2015 / Published: 1 October 2015

Abstract

Background: Sarcomas 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. Methods: Between 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. Results: A 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. Conclusions: The 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.
Keywords: Sarcoma; Li–Fraumeni–like syndromes; Li–Fraumeni syndrome; Chompret criteria; Lynch syndrome; genetic screening; TP53 mutations Sarcoma; Li–Fraumeni–like syndromes; Li–Fraumeni syndrome; Chompret criteria; Lynch syndrome; genetic screening; TP53 mutations

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MDPI and ACS Style

Schiavi, A.; Lavigne, J.; Turcotte, R.; Kasprzak, L.; Dumas, N.; Chong, G.; Freeman, C.; Alameldin, M.; Galiatsatos, P.; Palma, L.; et al. Using a Family History Questionnaire to Identify Adult Patients with Increased Genetic Risk for Sarcoma. Curr. Oncol. 2015, 22, 317-325. https://doi.org/10.3747/co.22.2588

AMA Style

Schiavi A, Lavigne J, Turcotte R, Kasprzak L, Dumas N, Chong G, Freeman C, Alameldin M, Galiatsatos P, Palma L, et al. Using a Family History Questionnaire to Identify Adult Patients with Increased Genetic Risk for Sarcoma. Current Oncology. 2015; 22(5):317-325. https://doi.org/10.3747/co.22.2588

Chicago/Turabian Style

Schiavi, A., J. Lavigne, R. Turcotte, L. Kasprzak, N. Dumas, G. Chong, C. Freeman, M. Alameldin, P. Galiatsatos, L. Palma, and et al. 2015. "Using a Family History Questionnaire to Identify Adult Patients with Increased Genetic Risk for Sarcoma" Current Oncology 22, no. 5: 317-325. https://doi.org/10.3747/co.22.2588

APA Style

Schiavi, A., Lavigne, J., Turcotte, R., Kasprzak, L., Dumas, N., Chong, G., Freeman, C., Alameldin, M., Galiatsatos, P., Palma, L., & Foulkes, W. D. (2015). Using a Family History Questionnaire to Identify Adult Patients with Increased Genetic Risk for Sarcoma. Current Oncology, 22(5), 317-325. https://doi.org/10.3747/co.22.2588

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