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

[摘要] 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 forTP53mutations, 1 pathogenic mutation was found. Further investigation of selected families led to the discovery of germline mutations inMLH1, MSH2,andAPCgenes 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.  

[学科分类] 肿瘤学

[关键词] Sarcoma;Li–Fraumeni–like syndromes;Li–Fraumeni syndrome;Chompret criteria;Lynch syndrome;genetic screening;TP53 mutations