Table 3. The clinical characteristics and family cancer history for HBOC individuals analysed in the SNP array with the six validated copy number variations.
| Family | Variation | Cancer (age at dg) | Br/Ov Cahistology/grade | Receptor Status | Ca cases in the family(age at dg if known) |
| 221 | 2q34 del | Bil. Br (39, 42) | duct, gr 1 and | ER+, PR+, HER2− and | Br (51), Panc (54) |
| duct, gr 2 | ER+, PR+, HER2− | ||||
| 212 | 2q34 del | Bil. Br (43) | duct, gr na and na | ER+, PR+, HER2− and na | Br (52) |
| 263 | 2q34 del | Ov (69), Br (72) | duct, gr 3 | ER−, PR−, HER2− | – |
| 249 | 2q34 del | Br (42) | medullary, na | na | Br (35, 44, 57, 67, 71), Ute (39), Kid (67), Mel (63) |
| Ov (45), Skin, To (51), Co (78) | |||||
| 132 | 2q34 del | Br (47) | duct, gr 1 | ER+, PR+, HER2 na | Br (38) |
| 232 | 3p11.1 del | Br (34) | duct, na | ER+, PR+, HER2 na | Br (39) |
| 244 | 3p11.1 del | Br (45) | duct, gr 2 | ER+, PR+, HER2− | Bil. Br (<45), Br (<35, 46), Brain (67) |
| 121 | 3p11.1 del | Br (50) | duct, gr 3 | ER−, PR−, HER2+ | 4xBr (36, 39, 40, 48) |
| 207 | 3p11.1 del | Br (38) | duct, gr 3 | na | Bil.Br (64) |
| 230 | 3p11.1 del | Br (33), Kid (37) | duct, gr 1 | ER+, PR+, HER2− | Br (70) |
| 118 | 3p11.1 del | Ov (32), Br (40), Mel (41) | Mucinous and | ER+, PR+, HER2− | – |
| 19q13.41 dup | duct, gr 2 | ||||
| 269 | 3p11.1 del | Br (36) | duct, gr 1 | ER+, PR+, HER2− | 3xBr (52, 70, 72), Skin (66) |
| 225 | 3p11.1 del | Br (43) | duct, gr 1 | ER+, PR+, HER2− | 2xBr (52, 77), Kid (64) |
| 123 | 5q15 del* | Br (29) | duct, gr 2 | ER+, PR−, HER2− | Br (65), Eso (73) |
| 250 | 5q15 del | Br (24) | duct, gr 3 | ER+, PR+, HER2+ | Cer (30), Ov (83) |
| 264 | 5q15 del | Bil. Br (44) | lob, gr 2 | ER+, PR+, HER2− | Br (44, 52) |
| 19q13.41 dup | |||||
| 129 | 5q15 del | BCC (70), Bil. Br (78), | left: lob, gr 2, | left: ER−, PR−, HER2−, | Bil. Br (59), BCC (48), Co (58) |
| Sto (82) | right: duct, gr 1 | right: ER+, PR+, HER2− | |||
| 246 | 5q15 del | Thy (30), Cer (33), Br (39) | duct, gr 3 | ER−, PR−, HER2+ | 2xBr (49, 54), Rectum (61) |
| 128 | 8p23.2 del | Br (36) | duct, gr 2 | ER+, PR+, HER2− | 2x Br (45, 58), GI (57), Mel (69) |
| 252 | 17q21.31 del | Br (46) | duct, gr 3 | ER−, PR−, HER2− | Bil. Ov (46), Ov (44) |
| 240 | 19q13.41 dup* | Br (53) | duct, gr 3 | ER+, PR−, HER2+ | 2xBr (42, 62) |
| 206 | 19q13.41 dup | Br (53) | duct, gr 1 | ER−, PR−, HER2− | Bil. Br (64), Br (49) |
| 133 | 19q13.41 dup | Br (48) | duct, gr 2 | ER+, PR+, HER2− | 2xBr (73, 79), Int, BCC (60) |
| 113 | 19q13.41 dup* | Br (51), BCC (55) | duct, gr 3 | ER−, PR−, HER2+ | Br (35) |
| 239 | 19q13.41 dup* | Br (37) | duct, gr 2 | ER+, PR+, HER2− | Br (>90), Co |
*
Homozygous CNV.
Abbreviations: BCC = Basal-cell carsinoma; Bil. Br = bilateral breast; Br = breast; Ca = cancer; Cer = cervix in situ carsinoma/cervix carsinoma; Co = colon; Dg = diagnosis; Del = deletion; Duct = ductal; Dup = duplication; Eso = esophagus; GI = gastrointestinal; gr = grade; Int = intestine; Kid = kidney; Lob = lobular; Mel = melanoma; na = not available; Ov = ovary; Panc = pancreatic; Sto = stomach; Thy = thyroid; To = tongue; Ute = ute. Cancers diagnosed in the paternal side of the family are presented in italics. Cancers diagnosed in siblings or their children of the index patients are underlined. Cancers diagnosed in the children of the index patients are presented in bold.