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

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

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 family^a:
	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 onset^b 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

^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.

ISSN: 1465-542X