Table 5.
Distribution of BRCA1/2 * variants in family members of the index patients
| Gene | Index patient ID | Family member ID | Nucleotide change | Amino acid change | Relationship to the index patient | Cancer history of the family member | Age at diagnosis (y) |
|---|---|---|---|---|---|---|---|
| BRCA1 | 196A | 196B | c.5093_5096delCTAA | p.Thr1698Ilefs*2 | Mother | Breast cancer | 61 |
| BRCA2 | 033A | 033B | No | — | Mother | No | — |
| 033C | c.304A>T | p.Lys102Ter | Father | Pancreatic cancer | 50 | ||
| BRCA2 | 073A | 073B | No | — | Father | Pancreatic cancer | 50 |
| 073C | No | — | Older sister | Breast cancer | 45 | ||
| 073D | No | — | Mother | No | — | ||
| 073E | No | — | Younger sister | No | — | ||
| 073F | No | Daughter | No | — |
*
BRCA1 (NM_007294.3) and BRCA2 (NM_000059.3).