A Schiavi1, J Lavigne2, R Turcotte3, L Kasprzak1, N Dumas4, G Chong5, C Freeman6, M Alameldin7, P Galiatsatos8, L Palma1, W D Foulkes9. 1. Department of Medical Genetics, McGill University Health Centre, McGill University, Montreal, QC; 2. Department of Surgery, McGill University, Montreal, QC; 3. Department of Oncology, McGill University, Montreal, QC; ; Department of Surgery, McGill University, Montreal, QC; ; Department of Orthopedics, McGill University, Montreal, QC; 4. Centre hospitalier de l'Université de Montréal, Montreal, QC; 5. Department of Human Genetics, McGill University, Montreal, QC; ; Department of Pathology, McGill University, Montreal, QC; 6. Department of Oncology, McGill University, Montreal, QC; ; Department of Pediatrics, McGill University, Montreal, QC; 7. Department of Pathology, McGill University, Montreal, QC; 8. Department of Oncology, McGill University, Montreal, QC; ; Department of Medicine, McGill University, Montreal, QC. 9. Department 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.
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.
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 sarcomapatients (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.
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