Nicla La Verde1, Fabio Corsi2, Anna Moretti1, Bernard Peissel3, Davide Dalu4, Serena Girelli1, Cinzia Fasola4, Anna Gambaro4, Gaia Roversi4,5, Jacopo Azzollini3, Paolo Radice6, Valeria Pensotti7, Gabriella Farina1, Siranoush Manoukian3. 1. Department of Oncology, AO Fatebenefratelli & Oftalmico, Milan - Italy. 2. Department of Biomedical and Clinical Sciences L. Sacco, University of Milan, Milan - Italy. 3. Unit of Medical Genetics, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan - Italy. 4. Department of Oncology, Luigi Sacco Hospital, Milan - Italy. 5. Department of Surgery and Translational Medicine, University of Milano-Bicocca, Milan - Italy. 6. Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan - Italy. 7. IFOM, Fondazione Istituto FIRC di Oncologia Molecolare and Cogentech Cancer Genetics Test Laboratory, Milan - Italy.
Abstract
AIMS AND BACKGROUND: Patients with hereditary breast cancer (BC) may benefit from genetic counseling and testing for detection of causative mutations, definition of therapeutic and preventive strategies, and identification of at-risk relatives. Italy has few oncogenetic centers and genetic evaluation of all patients with BC is not feasible. Moreover, lack of uniformity in the selection of patients generates inappropriate referral to the geneticist. We designed a model that may represent a reproducible way to select patients at risk for hereditary BC, with the aims of rationalizing access to genetic centers and improving clinical management and surveillance. METHODS: The genetic unit of a Cancer Center and the Departments of Oncology from 2 public Hospitals in Milan were involved in the project. After training sessions at the genetic unit, operators from the 2 hospitals evaluated all patients with BC attending a first oncologic visit, through a specific interview. Patients considered at risk of hereditary BC attended counseling at the genetic unit. RESULTS: Of 419 patients, 61 (14.5%) were eligible for genetic counseling after the interview. Of these, 46 (10.9%) strictly met testing criteria. Overall, 52 (12.4%) patients underwent genetic counseling and 47 were tested for BRCA1/BRCA2 mutation. After genetic test results, the available options for treatment/surveillance were discussed by a multidisciplinary team, according to the level of genetic risk. CONCLUSIONS: It is possible to improve the process of referring patients with suspected hereditary BC for genetic risk assessment. The application of clinical screening reduced the genetics unit's workload and enabled optimization of time and resources.
AIMS AND BACKGROUND:Patients with hereditary breast cancer (BC) may benefit from genetic counseling and testing for detection of causative mutations, definition of therapeutic and preventive strategies, and identification of at-risk relatives. Italy has few oncogenetic centers and genetic evaluation of all patients with BC is not feasible. Moreover, lack of uniformity in the selection of patients generates inappropriate referral to the geneticist. We designed a model that may represent a reproducible way to select patients at risk for hereditary BC, with the aims of rationalizing access to genetic centers and improving clinical management and surveillance. METHODS: The genetic unit of a Cancer Center and the Departments of Oncology from 2 public Hospitals in Milan were involved in the project. After training sessions at the genetic unit, operators from the 2 hospitals evaluated all patients with BC attending a first oncologic visit, through a specific interview. Patients considered at risk of hereditary BC attended counseling at the genetic unit. RESULTS: Of 419 patients, 61 (14.5%) were eligible for genetic counseling after the interview. Of these, 46 (10.9%) strictly met testing criteria. Overall, 52 (12.4%) patients underwent genetic counseling and 47 were tested for BRCA1/BRCA2 mutation. After genetic test results, the available options for treatment/surveillance were discussed by a multidisciplinary team, according to the level of genetic risk. CONCLUSIONS: It is possible to improve the process of referring patients with suspected hereditary BC for genetic risk assessment. The application of clinical screening reduced the genetics unit's workload and enabled optimization of time and resources.
Authors: Daiana Bucio; Kelly E Ormond; Daisy Hernandez; Carlos D Bustamante; Arturo Lopez Pineda Journal: Mol Genet Genomic Med Date: 2019-04-01 Impact factor: 2.183
Authors: Muy-Kheng M Tea; Yen Y Tan; Christine Staudigl; Birgit Eibl; Romana Renz; Ella Asseryanis; Andreas Berger; Georg Pfeiler; Christian F Singer Journal: PLoS One Date: 2018-07-12 Impact factor: 3.240