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Table 2 Features that may guide selection for treatment-focused genetic counselling and testing

From: 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

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:

 

   Additional relatives with breast or ovarian cancer

 

   Breast cancer diagnosed before the age of 40 years

 

   Bilateral breast cancer

 

   Breast and ovarian cancer in the same woman

 

   Ashkenazi Jewish ancestry

 

   Breast cancer in a male relative

 

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

Young age of onsetb especially in combination with:

At least one first-degree relative with breast or ovarian cancer; or

 

Bilateral breast cancer; or

 

Specific ethnic group with known founder mutations, for example, Ashkenazi Jewish ancestry; or

 

Presence of a triple negative breast tumours (ER, progesterone receptor and HER2 negative) or their subgroup of basal-cell like tumours

  1. 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.