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Table 1 Ascertainment criteria for defined kConFab categories

From: Analysis of cancer risk and BRCA1 and BRCA2mutation prevalence in the kConFab familial breast cancer resource

Category

Criteriaa

1

Families in which no predisposing mutation has been identified

 

Four or more cases of breast or ovarian cancer (on one side of the family) and

 

Two or more living affecteds with breast or ovarian cancer and

 

Four or more living first or second degree unaffected female relatives of affected cases

1B

Families in which no predisposing mutation has been identified

 

Two or three cases of breast or ovarian cancer (on one side of the family), if at least one of these cases is 'high risk' (i.e. male breast cancer, bilateral breast cancer, breast plus ovarian cancer in the same individual, or breast cancer with onset less than 40 years) and

 

Two or more living affected cases with breast or ovarian cancer and

 

Four or more living first or second degree unaffected female relatives of affected cases

2

Families in which a BRCA1 or BRCA2 variant has been identified

 

Two or more carriers, or likely carriers of a pathogenic, splice site or unclassified variantb, for example, two living affecteds, or one living affected and at least two living first degree unaffected females of a proven or likely mutation carrier

3

Families with mutations in other breast cancer predisposing genes

 

Families that carry pathogenic mutations in PTEN, TP53 or ATM, and have two or more living carriers, or potential carriers

4

Potentially high-risk individuals from whom fresh tumor is available, but who do not fit other criteria

 

Individuals that fit the Australian National Breast Cancer Centre guidelines for high risk of breast cancer (category III) [39], but who do not fit other kConFab categories, if they wish to donate fresh breast or ovarian surgical tissue to kConFab

5

Families with two cases of ovarian cancer that do not fit any of the other criteria

 

Two or three cases of ovarian cancer among first degree relatives, one or more of whom is alive and

 

Zero or one case of breast cancer and

 

Four or more living first or second degree unaffected female relatives of affected cases

  1. aAll criteria refer exclusively to individuals over the age of 18. bFamilies with unclassified variants in BRCA1 and BRCA2 were included in category 2 in order to maximize the opportunities to collect material that might be used in research studies aimed at trying to classify these variants.