Table 3 Identified variants in the studied individuals

202

BRCA1, 4883T > C

Br (26)

Ductal, 3

ER-, PR-, HER2-

Skin (54)

206

BRCA1, 4883T > C

Br (53)

Ductal, 1

ER-, PR-, HER2-

Bil. Ov (64), Br (49)

231

BRCA1, 4883T > C

-

Br x2 (33, 46), Cer (60), Skin (73)

232

BRCA1, 4883T > C

Br (34)

Ductal, na

ER +, PR +, HER2 na

Br (39)

249 (Figure 1)

BRCA1, 5095C > T

Br (42)

Medullary, na

na

Br x5 (35, 44, 57, 67, 71, ),

Co (78), Kid (67), Mel (63), Ov (45),

Skin, To (51), Ute (39)

115

BRCA2, 68-80insT

Br (59)

Lobular, 2

ER+, PR+, HER2-

Br x3 (<50), Br x2 (60, 60)

240

BRCA2, 72A > T

Br (53)

Ductal, 3

ER+, PR-, HER2+

Br x2 (42, 62)

207

BRCA2, 793 + 34T > G

Br (38)

na

na

Bil. Br (64)

5 (Figure 8)

BRCA2, 8182G > A

-

Bil. Br x2 (43, 48 and 54, 76),

BRCA2, 10234A > G

Br (43), Brain (75), Lip (45), Lung (81), Skin (75), Sto (56)

4

BRCA2, 9976A > T

-

Bil. Br x2 (53, 69 and <70),

CHEK2, 470T > C

Br (<70)

212

CHEK2, 444 + 85T > A

Bil. Br (43)

Ductal, 2 and na

ER+, PR+, HER2- and

Br (52)

PALB2, 2794G > A

na

110 (Figure 3)

CHEK2, 792 + 39C > T

Br (26)

Ductal, 2

ER+, PR+, HER2+

Br (48), Ca (84), Pr (64)

CHEK2, 470T > C

CHEK2, 1100delC

RAD50, 2398-32A > G

112

CHEK2, 470T > C

-

Br x3 (35, 43, 83), Skin (76),

PALB2, 1676A > G

Lung (71)

120

CHEK2, 470T > C

-

Br (64), Ov (72)

122

CHEK2, 470T > C

Br (25)

Ductal, 2

ER-, PR-, HER2+

Brain (66, Ca (83),Cer (31),

Pr (93), Re (73), Skin (87)

126

CHEK2, 470T > C

Br (48)

Ductal, na

ER, PR, HER2 na

Bil. Br, Br x2 (51, <53)

129 (Figure 2)

CHEK2, 470T > C

Skin (70),

Lobular, 2 and

ER-, PR-, HER2- and

Bil. Br (59), Co (58), Skin (48)

PALB2, 1676A > G

Bil. Br (78),

Ductal, 1

ER+, PR+, HER2-

Sto (82)

262 (Figure 6)

CHEK2, 470T > C

Bil. Br

Intraductal, na and

ER+, PR+, HER2+ and

Br (57), Panc (83), Si (79)

PALB2, 1000T > G

(45, 58)

Ductal, na

ER+, PR+, HER2-

264 (Figure 4)

CHEK2, 1100delC

Bil. Br (44)

Lobular, 2

ER+, PR+, HER2-

Br x2 (44, 52)

265 (Figure 5)

CHEK2, 1100delC

Br (45)

Ductal, 3

ER+, PR+, HER2+

Br (38)

PALB2, 1676A > G

237

PALB2, 814G > A

Br (28)

Ductal, 2

ER+, PR+, HER2+

-

133

PALB2, 1010T > C

Br (48)

Ductal, 2

ER+, PR+, HER2-

Int, Br x2 (73, 79), Skin (60)

235

PALB2, 1010T > C

Br (52)

na

na

Bil. Br (28), Br (56)

239

PALB2, 1010T > C

Br (37)

Ductal, 2

ER+, PR+, HER2-

Br ( > 90)

250

PALB2, 1010T > C

Br (24)

Ductal, 3

ER+, PR+, HER2+

Cer (30), Ov (83)

260

PALB2, 1010T > C

Br (29)

Ductal, 3

ER-, PR-, HER2-

Br (58), Lung (60)

267

PALB2, 1010T > C

Br (48)

Ductal, 1

ER+, PR+, HER2 na

Br x2 (51, 58)

113

PALB2, 1676A > G^a

Br (51),

Ductal, 3

ER-, PR-, HER2+

Br (35)

Skin (55)

131 (Figure 7)

PALB2, 1676A > G

Bil. Br (54)

Intraductal, na and

na

Bil. Br (46), Br (48)

BRIP1, 584T > C

Ductal, 2

229

PALB2, 1676A > G

Bil. Br (68)

na

na

Bil. Br (50, 70), Br x2 (45, 50)

236

PALB2, 1676A > G

Br (29)

Intraductal, na

na

Br (52)

246

PALB2, 1676A > G

Thy (30),

Ductal, 3

ER-, PR-, HER2+

Br x2 (49, 54), Re (61)

Cer (33),

Br (39)

268

PALB2, 1676A > G

Br (62)

Papillary, na

ER+, PR+, HER2-

Br x2 (36, 38)

PALB2, 2205A > G

271

PALB2, 1676A > G

Thy (62),

Lobular, 2

ER+, PR+, HER2-

Br x2 (43, 44)

Br (65)

102

PALB2, 2794G > A

Br (29)

Lobular, na

ER-, PR-, HER2+

Br (72)

BRIP1, 584T > C

244

PALB2, 2794G > A

Br (45)

Ductal, 2

ER+, PR+, HER2-

Bil. Br (<45), Br x2 (<35, 46),

Brain (67)

270

PALB2, 2993G > A

Br (66)

Ductal, 3

ER+, PR+, HER2-

Br x2 (48, <66)

257

RAD50, 1544A > G

Br (39)

Lobular, 2

ER+, PR+, HER2-

Br (69)

225

RAD50, 3475+33C > G

Br (43)

Ductal, 1

ER+, PR+, HER2-

Br x2 (52, 77), Kid (64)