Scoring system for identification of a pathogenic BRCA1/2 mutation
| Cancer, age at diagnosis | BRCA1 | BRCA2 |
|---|---|---|
| FBC, female breast cancer (each breast cancer in bilateral disease is counted separately and DCIS is included); MBC, male breast cancer. | ||
| Scores should be summed counting each cancer in a direct lineage, for example: proband breast cancer aged 29 years (BRCA1: 6; BRCA2: 5); mother breast cancer at aged 61 years (BRCA1: 1; BRCA2: 1, discounted as not the highest score in direct lineage); father MBC at 54 years of age (BRCA1: 5 only if BRCA2 negative; BRCA2: 8); paternal aunt breast cancer bilateral at age 43 and 52 years (BRCA1: 5; BRCA2: 5); total score: BRCA2: 18; BRCA1: 16 only after BRCA2 testing. | ||
| FBC, <30 | 6 | 5 |
| FBC, 30–39 | 4 | 4 |
| FBC, 40–49 | 3 | 3 |
| FBC, 50–59 | 2 | 2 |
| FBC, >59 | 1 | 1 |
| MBC, <60 | 5 (if BRCA2 alreadytested) | 8 |
| MBC, >59 | 5 (if BRCA2 alreadytested) | 5 |
| Ovarian cancer, <60 | 8 | 5 (if BRCA1 already tested) |
| Ovarian cancer, >59 | 5 | 5 (if BRCA1 already tested) |
| Pancreatic cancer | 0 | 1 |
| Prostate cancer, <60 | 0 | 2 |
| Prostate cancer, >59 | 0 | 1 |