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Classification of germline non-truncating variants: a new approach to interpretation.
J Med Genet
November 2024
Cancer Genetics Unit, Institut Bergonié, Bordeaux, Aquitaine, France.
Article Synopsis
- PTEN hamartoma tumour syndrome (PHTS) includes syndromes like Cowden syndrome, with missense variants making up 30% of PHTS cases, yet their classification is complex.
- A study from the Bergonie Institute identified 76 non-truncating variants in 166 patients, developing a new classification method using criteria like functional analysis, phenotypic features, and familial patterns.
- The new approach successfully reclassifies 25 variants, revealing the need to update current classification standards based on multiple factors, and it requires further validation in future research.
Editorial Comment.
J Urol
November 2022
Department of Radiation Oncology, University Hospital Leuven, Leuven, Belgium.
Standard chemotherapy with or without bevacizumab for women with newly diagnosed ovarian cancer (ICON7): overall survival results of a phase 3 randomised trial.
Lancet Oncol
August 2015
St James Institute of Oncology, St James University Hospital, Leeds, UK.
Background: The ICON7 trial previously reported improved progression-free survival in women with ovarian cancer with the addition of bevacizumab to standard chemotherapy, with the greatest effect in patients at high risk of disease progression. We report the final overall survival results of the trial.
Methods: ICON7 was an international, phase 3, open-label, randomised trial undertaken at 263 centres in 11 countries across Europe, Canada, Australia and New Zealand.
Methodological aspects of estimating rare cancer prevalence in Europe: the experience of the RARECARE project.
Cancer Epidemiol
December 2013
Department of Cancer Epidemiology, Istituto Superiore di Sanità, Rome, Italy. Electronic address:
This paper describes the usage and the performance evaluation of the completeness index method in the 'Surveillance of Rare Cancers in Europe project' (RARECARE) for estimating rare cancer prevalence in Europe. The 15-year prevalence at 1st January 2003 for 255 cancers is obtained from a pool of 22 RARECARE cancer registries (CRs). Incidence and survival models are applied to the RARECARE database to estimate the parameters from which the completeness indices are calculated.
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