Genetic counselling and testing for inherited gene mutations in newly diagnosed patients with breast cancer: a review of the existing literature and a proposed research agenda
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* Corresponding author: Bettina Meiser b.meiser@unsw.edu.au
1 Department of Medical Oncology, Prince of Wales Hospital, Randwick, NSW 2031, Australia
2 Prince of Wales Clinical School, University of New South Wales, Randwick, NSW 2031, Australia
3 Centre for Genetics Education, Royal North Shore Hospital, St Leonards, NSW 2065, Australia
4 Centre for Medical Psychology and Evidence-based Decision-making, University of Sydney, University of Sydney, NSW 2006, Australia
5 WA Centre for Cancer & Palliative Care, Curtin University of Technology, Bentley, WA 6102, Australia
6 WA Centre for Cancer & Palliative Care, Edith Cowan University, Joondalup, WA 6027, Australia
7 School of Surgery, University of Western Australia, 35 Stirling Highway, Nedlands, WA 6009, Australia
8 Jack Brockhoff Familial Cancer Centre, Peter MacCallum Cancer Centre, East Melbourne, VIC 3002, Australia
Breast Cancer Research 2008, 10:216 doi:10.1186/bcr2194
Published: 28 November 2008Abstract
Many women newly diagnosed with breast cancer and with a strong family history of breast cancer are referred to a family cancer service for genetic counselling and for consideration of genetic testing for germline mutations in cancer predisposition genes following completion of their cancer treatment. However, there is growing evidence that mutation status may influence treatment recommendations, and that there may be benefits in having 'treatment-focused genetic counselling and testing' available shortly after cancer diagnosis. This article reviews the literature that could inform the development of treatment-focused genetic counselling and testing, including: the rationale for genetic testing to aid with treatment decisions; the potential benefits of using mutation or risk status to tailor management; the criteria that may be used to identify patients most likely to carry germline mutations; and the evidence regarding women's decision-making regarding treatment-focused genetic counselling and testing and the associated psychological impact.