Abstract
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.
Highlights
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Studies were included in the review if they met the following criteria: they assessed mutation frequency in women with early onset breast cancer who were unselected for family history; they were published in a peer-review journal; they were published between January 1997 and October 2008; and they were published in the English language
There is increasing interest in treatment-focused genetic counselling and testing. This approach is not indicated for women who would not consider mastectomy or oophorectomy for cancer management because of age considerations or personal preference as they would have little to gain from an expedited genetic assessment
Summary
To provide guidance on the criteria that may be used to select women for treatment-focused genetic testing, we undertook a systematic literature search. Studies were included in the review if they met the following criteria: they assessed mutation frequency in women with early onset breast cancer who were unselected for family history; they were published in a peer-review journal; they were published between January 1997 and October 2008; and they were published in the English language. Specific personal and family features may mean that an uninformative test may support an assessment that it is less likely there is a hereditary syndrome, reducing estimates of risks for a new ipsilateral or contralateral breast cancer In this instance, the woman can make an informed decision and reasonably elect breast conservation. Age Sensitivity cut-off ranking of BRCA1/2 mutation (years) methodologya frequency combined
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