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.
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.
Meiser
Bettina
B
Department of Medical Oncology, Prince of Wales Hospital, Randwick, NSW 2031, Australia. b.meiser@unsw.edu.au
Tucker
Kathy
K
Friedlander
Michael
M
Barlow-Stewart
Kristine
K
Lobb
Elizabeth
E
Saunders
Christobel
C
Mitchell
Gillian
G
D001943:Breast Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000523:psychology*; D005260:Female; D005796:Genes / Q000235:genetics*; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000523:psychology*; D006801:Humans; D009154:Mutation / Q000235:genetics*