title: Finding all BRCA pathogenic mutation carriers: best practice models.
abstract: Identifying germline BRCA pathogenic mutations in patients with ovarian or breast cancer is a crucial component in the medical management of affected patients. Furthermore, the relatives of affected patients can be offered genetic testing. Relatives who test positive for a germline BRCA pathogenic mutation can take appropriate action to prevent cancer or have cancer diagnosed as early as possible for better treatment options. The recent discovery that BRCA pathogenic mutation status can inform treatment decisions in patients with ovarian cancer has led to an increased demand for BRCA testing, with testing taking place earlier in the patient care pathway. New approaches to genetic counselling may be required to meet this greater demand for BRCA testing. This review discusses the need for best practices for genetic counselling and BRCA testing; it examines the challenges facing current practice and looks at adapted models of genetic counselling.
authors: Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
authors: Nicoline
authors: N
authors: Hoogerbrugge
authors: Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
authors: Marjolijn Cj
authors: MC
authors: Jongmans
mesh_terms: D019313:BRCA1 Protein / Q000235:genetics*; D024682:BRCA2 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005817:Genetic Counseling / Q000379:methods / Q000592:standards*; D005820:Genetic Testing / Q000379:methods / Q000592:standards; D006579:Heterozygote; D006801:Humans; D010051:Ovarian Neoplasms / Q000175:diagnosis / Q000235:genetics*; D017410:Practice Guidelines as Topic
chemical_list: D019313:BRCA1 Protein; C492913:BRCA1 protein, human; D024682:BRCA2 Protein; C551750:BRCA2 protein, human