CATEGORY 1. Families in which no predisposition mutation has been identified. All of the following are required:

• At least one member of the family at high risk according to the National Breast Cancer Centre Category 111 guidelines (National Breast Ovarian Cancer Centre) 
• Four or more cases of breast or ovarian cancer (on one side of the family)
• Two or more living affected with breast or ovarian cancer
• Four or more living first or second degree unaffected female relatives of affected cases, over the age of 18

CATEGORY 2. Families in which a BRCA1 or BRCA2 mutation has been identified (pathogenic, splice site or unclassified variant).

• Mutation status of potential carriers may be unproven, but simply predicted by Mendelian inheritance 
• There does not need to be a living affected potential carrier 
• One or both potential carriers can be unaffected  

CATEGORY 3. Families with mutations in other breast cancer predisposition genes.

A small number of pedigrees submitted by the FCC have some features of other cancer syndromes that include breast cancer and are of interest to kConFab because they carry mutations in PTEN, TP53 or ATM. Families that carry pathogenic mutations in these genes and have two or more living carriers, or potential carriers are eligible for enrolment into kConFab. Families must carry a mutation to be enrolled into

Category 3.
If the clinical features suggest a relevant cancer syndrome (e.g. LiFraumeni Syndrome) but no mutation has been identified, the family can only be enrolled if they fulfill the Category 1 criteria.
kConfab will recruit all families in which there are at least two or more living potential female mutation carriers (affected and/or unaffected) amongst first and second degree relatives from the informative side of the family.

Information provided by kConFab