Definitions for inclusion rules and carrier risk classification rules
| Progenitor, HNPCC family | The closest common ancestors of all mutation carriers by test, plus cases with any of the following: endometrial cancer age <50, colon cancer age <50, multiple colon/endometrial cancer |
| Progenitor, HBOC family | The closest common ancestors of all mutation carriers by test plus cases with any of the following: breast cancer age <50, ovarian cancer any age, or multiple breast/ovary cancer |
| HNPCC cancer | Invasive cancer of the colon, endometrium, ovary, stomach, or small bowel, or an invasive transitional cell carcinoma of the kidney or ureter |
| HBOC cancer | Invasive cancer of the breast or ovary |
| Known carrier | A direct test for a specific mutation, previously identified in other family members, was positive and results were disclosed |
| Known non-carrier | A direct test for a specific mutation, previously identified in other family members, was negative and results were disclosed |