title: Using a family history questionnaire to identify adult patients with increased genetic risk for sarcoma.
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.
authors.affiliation: Department of Medical Genetics, McGill University Health Centre, McGill University, Montreal, QC;
authors.forename: A
authors.initials: A
authors.lastname: Schiavi
authors.affiliation: Department of Surgery, McGill University, Montreal, QC;
authors.forename: J
authors.initials: J
authors.lastname: Lavigne
authors.affiliation: Department of Oncology, McGill University, Montreal, QC; ; Department of Surgery, McGill University, Montreal, QC; ; Department of Orthopedics, McGill University, Montreal, QC;
authors.forename: R
authors.initials: R
authors.lastname: Turcotte
authors.affiliation: Department of Medical Genetics, McGill University Health Centre, McGill University, Montreal, QC;
authors.forename: L
authors.initials: L
authors.lastname: Kasprzak
authors.affiliation: Centre hospitalier de l'Université de Montréal, Montreal, QC;
authors.forename: N
authors.initials: N
authors.lastname: Dumas
authors.affiliation: Department of Human Genetics, McGill University, Montreal, QC; ; Department of Pathology, McGill University, Montreal, QC;
authors.forename: G
authors.initials: G
authors.lastname: Chong
authors.affiliation: Department of Oncology, McGill University, Montreal, QC; ; Department of Pediatrics, McGill University, Montreal, QC;
authors.forename: C
authors.initials: C
authors.lastname: Freeman
authors.affiliation: Department of Pathology, McGill University, Montreal, QC;
authors.forename: M
authors.initials: M
authors.lastname: Alameldin
authors.affiliation: Department of Oncology, McGill University, Montreal, QC; ; Department of Medicine, McGill University, Montreal, QC.
authors.forename: P
authors.initials: P
authors.lastname: Galiatsatos
authors.affiliation: Department of Medical Genetics, McGill University Health Centre, McGill University, Montreal, QC;
authors.forename: L
authors.initials: L
authors.lastname: Palma
authors.affiliation: 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.
authors.forename: W D
authors.initials: WD
authors.lastname: Foulkes
keywords: Chompret criteria; Li–Fraumeni syndrome; Li–Fraumeni–like syndromes; Lynch syndrome; Sarcoma; TP53 mutations; genetic screening