Table 1.
Summary of BRCA1 Promoter Methylation Status in Lymphocyte-Derived DNA and Clinical Phenotypes and Genotypes for the c.−107A>T Variant in All Tested Individuals
| Individual | BRCA1 Promoter Methylation (Mean %) | c.−107A>T | Clinical Status (Age at Diagnosis in Years) | Sex | Age Tested (Years) |
|---|---|---|---|---|---|
| Family 1 | |||||
| II-1 | 1 | AA | unaffected | female | 80 |
| II-3 | 0 | AA | unaffected | female | 74 |
| II-4 | 43 | AT | breast (39) and ovarian (48) cancer | female | 68 |
| II-5 | 37 | AT | bilateral breast cancer (30 and 32), colorectal cancer (64) | female | 68 |
| II-7 | 41 | AT | unaffected | male | 63 |
| III-1 | 38 | AT | unaffected | male | 43 |
| III-2 | 1 | AA | unaffected | female | 41 |
| III-3 | 44 | AT | unaffected | male | 31 |
| III-4 | 41 | AT | unaffected | female | 49 |
| III-5 | 32 | AT | breast cancer (39) | female | 43 |
| Family 2 | |||||
| II-4 | 44 | AT | unaffected | female | 85 |
| III-1 | 44 | AT | unaffected | male | 58 |
| III-2 | 41 | AT | bilateral breast cancer (38 and 46) | female | 56 |
| III-3 | 43 | AT | ovarian cancer (48) | female | 61 |