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

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.

ISSN: 1471-2407