Table 1.
Clinicopathologic and genetic characteristics of the 10 MBC cases analyzed for the presence of BRCA1/2 mutations.
| Family | Patient | Age | TNM | histology | ER | PR | Method | Mutation | Effect | Affected relatives |
| 25 | BR 22 | 40 | N.A. | N.A. | N.A. | N.A. | PTT-SSCP | 9106C>T | Q2960X | BC(31)s, BC(48)s, BC(44)s, BC(30)s, BC(65)s, BC(37)ptc. |
| 103 | BR 111 | 59 | pT1N0 | intraductal carcinoma | N.A. | N.A. | PTT-SSCP MLPA | w.t. | BC(78)s, BC(75)pta, BC(55)ptc, BC(N.A.)ptc, BC(60)ptc, BC(60)ptc, BC(58)ptc, BC(60)ptc. | |
| 125 | BR 138 | 62 | pTis | intraductal carcinoma | + | + | PTT-SSCP MLPA | w.t. | BC(82)m. | |
| 127 | BR 140 | 52 | pT1cN0 | infiltrating ductal carcinoma | + | + | PTT-SSCP MLPA | w.t. | BC(55)mta, BC(47)mta, PC(61)mtu, BC(45)mtc, BCbil.(35)mtc, BC(42)mtc. | |
| 139 | BR 173 | 58 | pT2N1biii | infiltrating ductal carcinoma | + | + | PTT-SSCP MLPA | w.t. | / | |
| 140 | BR 175 | 58/66PC | PT4bN0 | infiltrating ductal carcinoma | + | + | PTT-SSCP | 9106C>T | Q2960X | BCbil.(30)s, BC(40)pta, BC(48)pta. |
| 161 | BR 195 | 50 | N.A. | N.A. | N.A. | N.A. | PTT-SSCP | IVS16-2A>G | exon skipping | BC(38)f, BC(57)pta, PC(N.A.)ptu, BC(50)ptgm, BC(N.A.)ptggf, BC(N.A.)ptga, BC(N.A.)ptga. |
| 190 | BR 243 | 70 | pT1c | infiltrating ductal carcinoma | + | + | PTT-SSCP | IVS16-2A>G | exon skipping | BC(36)d, BC(46)OC(N.A.)m, BC(N.A.)(OC)(N.A.)mta, BC(N.A.)mtc. |
| 192 | BR 247 | 38 | pT4bN1biiiM0 | infiltrating ductal carcinoma | + | + | PTT-SSCP MLPA | w.t. | PC(75)f. | |
| 217 | BR 282 | 46 | pT1aiiiN0 | infiltrating ductal carcinoma | + | + | PTT-Direct Sequencing MLPA | 4590C>G | P1491A | BC(N.A.)pta, BC (N.A.)ma. |
Number between parentheses indicate the age at diagnosis; N.A.: not available; w.t.: wild-type; PTT: protein truncation test; SSCP: single strand conformation polymorphism; MLPA: multiplex ligation-dependent probe amplification; mt: maternal; pt: paternal; m: mother; f: father; s: sister; d: daughter; gm: grandmother; ggf: great-grandfather; ga: great-aunt; c: cousin; u: uncle; a: aunt. BC: breast cancer; BCbil: bilateral breast cancer; OC: ovarian cancer; PC: prostate cancer.