Third, cascade testing for the pathogenic variant enables identification of family members who carry it, are at elevated risk of cancer and might benefit from medical interventions, as well as providing reassurance for those who do not carry the familial variant. Second, knowledge of elevated risk of subsequent breast, ovarian and other cancers may direct the patient towards risk-reducing surgery and/or intensive surveillance. First, identification of a germline pathogenic variant can provide insights into the oncogenesis of their cancer, potentially informing selection of chemotherapeutic agents, including platinum and targeted therapies such as poly-ADP ribose polymerase inhibitors. Testing of patients with cancer for high penetrance breast-ovarian cancer susceptibility gene (CSGs) BRCA1, BRCA2 and PALB2 offers three potential benefits.
16 Division of Evolution and Genomic Sciences, The University of Manchester, Manchester, UKĭr Clare Turnbull, Division of Genetics and Epidemiology, Institute of Cancer Research, London SM2 5NG, UK .uk.15 Nightingale and Genesis Breast Cancer Centre, University Hospital of South Manchester NHS Foundation Trust, Manchester, UK.14 Prevent Breast Cancer Centre, Wythenshawe Hospital Manchester Universities Foundation Trust, Manchester, UK.13 School of Cancer Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.12 Department of Health Services Research, Faculty of Public Health & Policy, London School of Hygiene and Tropical Medicine, London, UK.11 Department of Gynaecological Oncology, Barts Health NHS Trust, London, UK.10 Department of Medicine, Univerity of Oxford Nuffield, Oxford, UK.9 Clinical Ethics and Law at Southampton (CELS), University of Southampton, Southampton, UK.8 Cancer Genetics Unit, Royal Marsden NHS Foundation Trust, London, UK.
7 Wolfson Institute of Population Health, Queen Mary’s University of London, London, UK.6 Clinical Genetics, East Anglian Medical Genetics Service, Cambridge, UK.5 BRCA Journey, Patient Representative, Leeds, UK.4 Sussex Health Outcomes, Research and Education in Cancer (SHORE-C), Brighton and Sussex Medical School, Brighton, UK.3 Centre for Molecular Pathology, Institute of Cancer Research Sutton, Sutton, UK.2 Clinical Trials Unit, Brighton and Sussex Medical School, Brighton, UK.1 Institute of Cancer Research, Division of Genetics and Epidemiology, Sutton, UK.
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