Criteria for ascertainment for CDH1 mutation analysis
| Breast Cancer Genetics Consortium | |||||||
| Criteria for ascertainment | Patients (n=120) | Sex | Median age (years) | Age range (years) | Novel non-synonymous variants in criteria | BRCA1/2 negative (n=66) | BRCA1/2 unknown (n=54) |
| Criteria 1 | 66 | F | 40 | (28–44) (n=66) | 2 | 36 | 34 |
| Criteria 2 | 54 | F | 54 | (45–72) (n=54) | 1 | 30 | 20 |
| Breast CFR | |||||||
| Criteria for ascertainment | Patients (n=165) | Sex | Median age (years) | Age range (years) | Novel non-synonymous variants in criteria | BRCA1/2 negative (n=147) | BRCA1/2 unknown (n=18) |
| Criteria 1 | 142 | F | 40 | (31–44) (n=51) | 3 | 130 | 12 |
| Criteria 2 | 23 | F | 57 | (45–79) (n=20) | 0 | 17 | 6 |
| kConFab | |||||||
| Criteria for ascertainment | Patients (n=33) | Sex | Median age (years) | Age range (years) | Novel non-synonymous variants in criteria | BRCA1/2 negative (n=33) | BRCA1/2 unknown |
| Criteria 1 | 6 | F | 40 | (37–43) (n=6) | 0 | 6 | 0 |
| Criteria 2 | 27 | F | 57 | (45–77) (n=28) | 0 | 27 | 0 |
| All samples | |||||||
| Criteria for ascertainment | Patients (n=318) | Sex | Median age (years) | Age range (years) | Novel non-synonymous variants in criteria | BRCA1/2 negative (n=246) | BRCA1/2 unknown (n=72) |
| Criteria 1 | 214 | F | 40 | (28–44) (n=123) | 5 | 172 | 46 |
| Criteria 2 | 104 | F | 56 | (45–79) (n=101) | 1 | 74 | 26 |
The criteria for ascertainment were a patient with a history of lobular or mixed ductal and lobular pathology whose BRCA1 and BRCA2 mutation status was negative or unknown and either diagnosed before age 45 years or diagnosed at any age but with two or more cases of breast cancer in first- or second-degree relatives.