Category 1+. Families in which no predisposing mutation has been identified

Families with four or more living affected with breast cancer or ovarian cancer (not two or three such cases as previously collected) and they will be referred to as Category 1+ (“one-plus”) families

• at least one member of the family at potentially high-risk according to the Cancer Australia Guidelines
• four or more cases of breast or ovarian cancer (on one side of the family)
• four 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

kConFab is interested in ‘mutation-positive’ families where there are two or more carriers (or likely carriers amongst first and second degree relatives from the informative side of the family).

Not all mutation-positive families will fit these criteria. A ‘mutation-carrier’ is defined for this purpose as the carrier of a pathogenic, splice site or unclassified variant in BRCA1 or BRCA2.

Category 3. Families with mutations in other breast cancer predisposing genes

Families that carry pathogenic mutations in the PTEN, TP53, PALB2, ATM, RAD51C/D 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 under Category 3.

Category 4. High-risk breast cancer families from which fresh tumour is available, but who do not fit other kConFab criteria

We will collect all families that fit the Cancer Australia Guidelines but do not fit the 1+, 3 criteria, if a family member wishes to enrol in kConFab and consent for a portion of their tumour (of any type) to be collected by kConFab.

NOTE: We will recruit families through Category 4 if a woman is having surgery for a suspected tumour. As previously, we will also collect normal tissue that is prophylactically removed at the time of this surgery for a suspected tumour.