Table 1.
Indication for Inclusion and Mutation Status of Study Participants
| Indication for Inclusion or Mutation Status | No. | % |
|---|---|---|
| Indication for Inclusion | ||
| Known mutation in family and/or proband | 867 | 24.4 |
| Breast/ovarian family history; no known mutation | 1,499 | 42.1 |
| Ovarian only family history; no known mutation | 889 | 25.0 |
| Lynch syndrome family history; no known mutation | 25 | 0.7 |
| Not fitting standard inclusion criteria but deemed high risk by recruiting center and study clinical geneticist (J.M.) | 283* | 7.9 |
| Total | 3,563 | 100 |
| Mutation status of proband at censor date | ||
| BRCA1 | 282 | 7.9 |
| BRCA2 | 250 | 7.0 |
| BRCA1 and BRCA2 | 6 | 0.2 |
| MLH1 | 28 | 0.8 |
| MSH2 | 33 | 0.9 |
| MSH6 | 4 | 0.1 |
| PMS1 | 0 | 0.0 |
| PMS2 | 0 | 0.0 |
| Tested negative | 322 | 9.0 |
| Tested but result pending | 109 | 3.1 |
| Untested | 2,529 | 71.0 |
| Total | 3,563 | 100 |
NOTE. Documentation (death certificates or histopathology reports) of relevant cancers in the family was required. This was available for 63.9% of women included for reasons other than a predisposing mutation in themselves or first-degree relative.
*
Nine were possible Lynch syndrome families, and 271 were breast/ovarian cancer families.