Table 2.
Characteristics of MBC Patients with BRCA2 Mutations.
| Patient | Mutation | Effect | Age at Diagnosis (years) | Histologic Type (Grade) | Family History of Cancer Among First-Degree and Second-Degree Relatives | |
| Type of Relative (Age at Diagnosis) | ||||||
| Breast Cancer | Other Cancers | |||||
| Y170 | 999 del5 | Frameshift | 46 | IDC (3) | S (25), S (45), S (54), S (65, 67)* | M stomach (76), F prostate (63), B lung (64), PA uterine (61), PA fallopian tube (79) |
| Y047 | 4075 delGT | Frameshift | 58 | ILC | B (78) | S ovary (67), S cervical (71) |
| Y099 | 5808 del5 | Frameshift | 66 | IDC (3) | MA (76), PA (83) | MA skin (97), GD leukemia (5), B skin (74), BD chorion (30) |
| Y021 | 7708 C>T | Nonsense | 71 | IDC (3) | M (80), S (50) | F skin (NA), S liver (78), SD brain (8) |
| Y063-17 | 9346(-2) A>G | Splice site | 67 | IDC (2) | SS (71), SD (36), SD (49), SD (50) a, SD (54) b |
SD ovarian (58), D uterine (55), So prostate (60), B colon (87), S laryngeal (NA), SD cervical (39), SD cervical (47) a, SD lymphoma (69) b |
| Y076 | 9346(-2) A>G | Splice site | 64 | IDC (3) | ||
| Y084 | 9346(-2) A>G | Splice site | 49 | IDC (2) | S (73) | F prostate (69), F skin (47), B prostate (58) |
| Y089 | 9346(-2) A>G | Splice site | 66 | IDC (2) | ||
| Y095 | 9346(-2) A>G | Splice site | 69 | IDC (3) | D (44) c, S (80) | D chorion (33) c, B prostate (69) |
| Y103 | 9346(-2) A>G | Splice site | 91 | IDC (1) | ||
| Y115 | 9346(-2) A>G | Splice site | 57 | ILC | ||
| Y157 | 9346(-2) A>G | Splice site | 75 | IDC (2) | B stomach (84), So prostate (56) | |
IDC, invasive ductal carcinoma; ILC, invasive lobular carcinoma.
M, mother; F, father; S, sister; B, brother; D, daughter; So, son; GD, granddaughter; PA, paternal aunt; PU, paternal uncle; MA, maternal aunt; SD, sister's daughter; SS, sister's son; BD, brother's daughter; NA, not available.
a, b, c, same individuals.
*
Bilateral breast cancer.