Showing papers by "Michael O. Woods published in 2014"
QIMR Berghofer Medical Research Institute1, University of Queensland2, Royal Melbourne Hospital3, University of Vermont4, Kuwait University5, University of Toronto6, Aalborg University7, Leiden University8, French Institute of Health and Medical Research9, University of Edinburgh10, University Hospital of Wales11, University of Rouen12, University of Utah13, Huntsman Cancer Institute14, University of Connecticut Health Center15, Ludwig Maximilian University of Munich16, University of Western Sydney17, University of New South Wales18, Garvan Institute of Medical Research19, Karolinska University Hospital20, University of Hong Kong21, Oslo University Hospital22, University of Helsinki23, Zhejiang University24, University of Rochester Medical Center25, University of Cape Town26, University of Copenhagen27, University of Düsseldorf28, John Hunter Hospital29, University of Newcastle30, University Medical Center Groningen31, State University of New York System32, Memorial University of Newfoundland33, University of Florence34
TL;DR: This large-scale endeavor will facilitate the consistent management of families suspected to have Lynch syndrome and demonstrates the value of multidisciplinary collaboration in the curation and classification of variants in public locus-specific databases.
Abstract: The clinical classification of hereditary sequence variants identified in disease-related genes directly affects clinical management of patients and their relatives. The International Society for Gastrointestinal Hereditary Tumours (InSiGHT) undertook a collaborative effort to develop, test and apply a standardized classification scheme to constitutional variants in the Lynch syndrome-associated genes MLH1, MSH2, MSH6 and PMS2. Unpublished data submission was encouraged to assist in variant classification and was recognized through microattribution. The scheme was refined by multidisciplinary expert committee review of the clinical and functional data available for variants, applied to 2,360 sequence alterations, and disseminated online. Assessment using validated criteria altered classifications for 66% of 12,006 database entries. Clinical recommendations based on transparent evaluation are now possible for 1,370 variants that were not obviously protein truncating from nomenclature. This large-scale endeavor will facilitate the consistent management of families suspected to have Lynch syndrome and demonstrates the value of multidisciplinary collaboration in the curation and classification of variants in public locus-specific databases.
407 citations
TL;DR: Pre-diagnosis cigarette smoking is associated with worsened prognosis among patients with CRC, and the associations of cigarette smoking with the study outcomes were higher Among patients with ⩾40 pack-years of smoking.
Abstract: Results: Compared with never smokers, all-cause mortality (overall survival, OS) was higher for current (HR: 1.78; 95% CI: 1.04–3.06), but not for former (HR: 1.06; 95% CI: 0.71–1.59) smokers. The associations of cigarette smoking with the study outcomes were higher among patients with X40 pack-years of smoking (OS: HR: 1.72; 95% CI: 1.03–2.85; disease-free survival (DFS: HR: 1.99; 95% CI: 1.25–3.19), those who smoked X30 cigarettes per day (DFS: HR: 1.80; 95% CI: 1.22–2.67), and those with microsatellite stable (MSS) or MSI-low tumours (OS: HR: 1.38; 95% CI: 1.04–1.82 and DFS: HR: 1.32; 95% CI: 1.01–1.72). Potential heterogeneity was noted for sex (DFS HR: 1.68 for men and 1.01 for women: P for heterogeneity ¼0.04), and age at diagnosis (OS: HR: 1.11 for patients aged o60 and 1.69 for patients aged X60: P for heterogeneity ¼0.03). Conclusions: Pre-diagnosis cigarette smoking is associated with worsened prognosis among patients with CRC.
49 citations