Table 2 |
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Features that may guide selection for treatment-focused genetic counselling and testing |
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Strong family history consistent with dominantly inherited breast/ovarian cancer |
Two or more first- or second-degree relatives on one side of the family plus one or more of the following features on the same side of the familya: |
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Additional relatives with breast or ovarian cancer |
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Breast cancer diagnosed before the age of 40 years |
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Bilateral breast cancer |
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Breast and ovarian cancer in the same woman |
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Ashkenazi Jewish ancestry |
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Breast cancer in a male relative |
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One or more first- or second-degree relatives with breast cancer at age 45 years or younger plus another first- or second-degree relative on the same side of the family with sarcoma (bone/soft tissue) at age 45 years or younger |
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Young age of onsetb especially in combination with: |
At least one first-degree relative with breast or ovarian cancer; or |
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Bilateral breast cancer; or |
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Specific ethnic group with known founder mutations, for example, Ashkenazi Jewish ancestry; or |
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Presence of a triple negative breast tumours (ER, progesterone receptor and HER2 negative) or their subgroup of basal-cell like tumours |
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aNational Breast Cancer Centre [96]. bThe age cut-off to be used will depend on local availability of resources and the future cost of mutation detection. |
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Meiser et al. Breast Cancer Research 2008 10:216 doi:10.1186/bcr2194 |
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