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Table 1 Clinicopathologic and genetic characteristics of the 10 MBC cases analyzed for the presence of BRCA1/2 mutations.

From: Phenotypic features and genetic characterization of male breast cancer families: identification of two recurrent BRCA2 mutations in north-east of Italy

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.
  1. 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.
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