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In oncology, the expanding use of multi-gene panels to explore familial cancer predisposition and tumor genome analysis has led to increased secondary findings discoveries (SFs) and has given rise to important medical, ethical, and legal issues. The American College of Medical Genetics and Genomics published a policy statement for managing SFs for a list of genes, including 25 cancer-related genes. Currently, there are few recommendations in Europe. From June 2016 to May 2017, the French Society of Predictive and Personalized Medicine (SFMPP) established a working group of 47 experts to elaborate guidelines for managing information given on the SFs for genes related to cancers. A subgroup of ethicists, lawyers, patients' representatives, and psychologists provided ethical reflection, information guidelines, and materials (written consent form and video). A subgroup with medical expertise, including oncologists and clinical and molecular geneticists, provided independent evaluation and classification of 60 genes. The main criteria were the "actionability" of the genes (available screening or prevention strategies), the risk evaluation (severity, penetrance, and age of disease onset), and the level of evidence from published data. Genes were divided into three classes: for class 1 genes (n = 36), delivering the information on SFs was recommended; for class 2 genes (n = 5), delivering the information remained questionable because of insufficient data from the literature and/or level of evidence; and for class 3 genes (n = 19), delivering the information on SFs was not recommended. These guidelines for managing SFs for cancer-predisposing genes provide new insights for clinicians and laboratories to standardize clinical practices.
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http://dx.doi.org/10.1038/s41431-018-0224-1 | DOI Listing |
Ophthalmic Plast Reconstr Surg
December 2024
Division of Oculofacial Plastic and Reconstructive Surgery, Shiley Eye Institute, UCSD, La Jolla, California, U.S.A.
Purpose: To describe and characterize shortened fornix syndrome (SFS), a rare complication following posterior-approach ptosis repair using conjunctival Müller muscle resection.
Methods: This retrospective case series evaluates 4 patients who developed SFS after conjunctival Müller muscle resection. Clinical characteristics, surgical histories, management, and outcomes are reviewed.
Health Qual Life Outcomes
December 2024
Department of Urology, Medical University of Vienna, Waehringer Guertel 18-20, Vienna, 1090, Austria.
Background: Electronic patient-reported outcomes (ePROs) have been shown to enhance healthcare quality by improving patient symptom management or quality of life (QoL). However, ePROs data for urothelial cancer (UC) patients receiving systemic therapies are scarce, and the application of ePROs in this patient cohort may need specific setups. This study tested the feasibility of ePROs for UC patients receiving systemic therapies in the outpatient clinic of a tertiary care center.
View Article and Find Full Text PDFForensic Sci Int
December 2024
People's Public Security University of China, Beijing 10038, China. Electronic address:
Objective: To determine the living regions of individuals based on amino acids in fingermark residues and to establish a rapid and accurate regional classification method using machine learning.
Methods: A total of 71 fingermark donors from six different provinces in various regions of China were selected. The content of 18 amino acids in their fingermarks was detected using UHPLC-QQQ-MS/MS.
Target Oncol
November 2024
Department of Urology, The Jikei University School of Medicine, 3-19-18 Nishi-shimbashi, Minato-ku, Tokyo, 105-8471, Japan.
Context: Adjuvant immune checkpoint inhibitors (ICIs) have recently emerged as guideline-recommended treatments of high-risk muscle-invasive urothelial carcinoma (MIUC). However, there is limited evidence regarding the optimal candidates and the differential efficacy of adjuvant ICI regimens.
Objective: To synthesize and compare the efficacy and safety of adjuvant ICIs for high-risk MIUC using updated data from phase III randomized controlled trials.
Genet Med
November 2024
Institute of Health Policy, Management & Evaluation, University of Toronto, Toronto, Ontario, Canada; Genomics Health Services Research Program, Li Ka Shing Knowledge Institute, St Michael's Hospital, Unity Health Toronto, Toronto, Ontario, Canada.
Background: Practice is shifting toward genome-first approaches, such as opportunistic screening for secondary findings (SFs). Analysis of SFs could be extended beyond medically actionable results to include non-medically actionable monogenic disease risks, carrier status, pharmacogenomic variants, and risk variants for common complex disease. However, evidence on the clinical utility of returning these results is lacking.
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