Table 1.
Small pathogenic variants of BRCA1 and BRCA2 in 218 familial breast and/or ovarian cancer patients
| Gene | Mutation | AA change | ClinVar | No. of patient | Tumor type (age Dx) | IHC of BC | History of BC and OC (age Dx) | Other cancers in the family (age Dx) |
|---|---|---|---|---|---|---|---|---|
| BRCA1 | c.223G > T | p.Glu75Ter | No | 1 | IDC (R 44, L 54) | ER−/PR−/HER2- | S OC(52) | PA EC, PA LC, MU GC |
| c.1209delT | p.Glu404Asnfs | No | 1 | IDC (47), OC, TC | ER+/PR+/HER2- | M OC(52), MA OC(54) | ||
| c.1465G > T | p.Glu489Ter | Yes | 1 | IDC (51) | ER−/PR−/HER2- | S OC(52) and BC(58) | ||
| c.1945G > T | p.Glu649Ter | Yes | 1 | IDC (36) | ER−/PR−/HER2- | M BC(58) | ||
| c.2110_2111delAA | p.Asn704Cysfs | Yes | 2 | IDC (55) | ER−/PR−/HER2- | M BC(57) | ||
| IDC (68) | ER−/PR−/HER2- | S OC, D OC(40) | ||||||
| c.3266delA | p.Leu1089Cysfs | Yes | 1 | IDC (62) | ER−/PR−/HER2- | S OC(45) | S LC(65), | |
| c.3295delC | p.Pro1099Leufs0 | No | 1 | IDC (29) | ER−/PR−/HER2- | S BC(40) | ||
| c.3780_3781delAG | p.Leu1260Phefs | No | 2 | OC (57) | ND | M BC(58) | S GbC(70) | |
| IDC (39), OC (44) | NA | MA BC(42), MA BC(33) | ||||||
| c.4063_4066delAATC | p.Asn1355Lysfs | No | 1 | IDC (40) | ER+/PR+/HER2- | M BC(46) | ||
| c.4065_4068delTCAA | p.Asn1355Lysfs | Yes | 2 | IDC (38), OC (45) | ER−/PR−/HER2- | M BC (69) | MA EC | |
| IDC (50) | ER−/PR−/HER2- | S BC | P GC | |||||
| c.5154G > A | p.Trp1718Ter | Yes | 2 | IDC(35) | ER−/PR−/HER2- | S BC(40) | F BT | |
| IDC (41) | ER−/PR−/HER2- | S BC(45) | M EC(69), MA RC | |||||
| c.5161C > T | p.Gln1721Ter | Yes | 1 | IDC (32) | ER−/PR−/HER2- | S BC(L 35, R 37), M OC(47) | ||
| c.5173insA | p.Glu1725Argfs | Yes | 1 | IDC (42) | ER−/PR−/HER2- | S BC(48), MA BC(48) | M LC(51) | |
| c.5251C > T | p.Arg1751Ter | Yes | 1 | IDC (47) | ND | S DCIS(57) | ||
| c.5467 + 1G > A | – | Yes | 1 | IDC (31) | ER+/PR+/HER2+ | S BC(41), S BC(45), MA BC(51) | ||
| c.5468-1_5474del GCAATTGG | – | No | 2 | IDC (41) | ER−/PR−/HER2- | S BC(52), S OC(47) | M EC(77), F LuC(81) | |
| IDC (36) | ER−/PR−/HER2- | S BC(L 38, R 44), MA BC(48) | MA EC(50) | |||||
| c.5470_5477del ATTGGGCA | p.Ile1824Aspfs | Yes | 5 | IDC (36) | ER−/PR−/HER2- | S BC (L 37, R 39) | ||
| IDC (40) | ER−/PR−/HER2- | M BC(44) | ||||||
| IDC (58) | ER−/PR−/HER2- | M OC(55), MA BC(56) | ||||||
| IDC (L 22, R 33), TC (22) | ER−/PR−/HER2- | M BC(47), MGM BC(49), MA BC(33), MA OC(42) | MA RC(47) | |||||
| IDC (49) | ER−/PR−/HER2- | S BC(52), PA BC | ||||||
| BRCA2 | c.-39-1_-39delGA | – | Yes | 1 | IDC (46) | ER+/PR+/HER2+ | S BC(48) | |
| c.469_473delAAGTC | p.Lys157Serfs | No | 1 | IDC (46) | ER−/PR+/HER2- | S BC(L 47, R 49) | S CC(50), F EsC(51), B EsC(64) | |
| c.470_474del AGTCA | p.Lys157Serfs | Yes | 1 | ILC (31) | ER+/PR+/HER2- | M BC(58) | ||
| c.755_758delACAG | p.Asp252Valfs | Yes | 1 | IDC (48) | ER+/PR+/HER2- | M OC(68) | ||
| c.784delG | p.Ala262Glnfs | No | 1 | IDC (43) | ER+/PR+/HER2- | S BC(43), PA BC(50) | F EsC(57), FU PC(56) | |
| c.3109C>T | p.Gln1037Ter | Yes | 2 | IDC (L 39, R 47) | ER+/PR+/HER2- | M BC (39) | ||
| IDC (34) | ER+/PR+/HER2- | PA BC(51) | PA GC(70), PU EsC (59) | |||||
| c.3189_3192delGTCA | p.Ser1064Leufs | Yes | 1 | IDC (55) | ER+/PR+/HER2- | S BC(55) | ||
| c.3596_3599delACTG | p.Asp1199Valfs | Yes | 1 | IDC (44) | NA | S BC(46), M BC(60) | ||
| c.4487delC | p.Pro1496Glnfs | No | 1 | IDC (37) | ER−/PR+/HER2- | S BC(47), MS BC(41) | MA TC(51), MA TC(55), MS TC(36) | |
| c.5495delC | p.Ser1832Leufs | No | 1 | IDC (41) | ER−/PR+/HER2- | S BC(43) | ||
| c.5682C > G | p.Tyr1894Ter | Yes | 4 | ILC (32) | ER+/PR+/HER2- | PA BC(45), PA BC(R 42, L 46) | ||
| MBC (42) | NA | PGF BC(66) | ||||||
| ILC (68) | ER+/PR+/HER2- | PA BC(60) | ||||||
| ILC (61) | ER+/PR+/HER2- | S BC(51) | ||||||
| c.6141 T > A | p.Tyr2047Ter | No | 1 | IDC (35) | NA | S BC(39), MGM BC(61), MS BC(50) | S LuC (52), MU LC(66) | |
| c.6359C > G | p.Ser2120Ter | Yes | 1 | ILC (R 36, L 51), EC (55) | ER+/PR+/HER2- | M OC(76), MA BC(70) | ||
| c.7588C > T | p.Gln2530Ter | No | 1 | IDC (43) | ER+/PR+/HER2+ | M BC(63) |
AA amino acid, Dx diagnosis, IHC immunohistochemistry, IDC invasive ductal carcinoma, ILC invasive lobular carcinoma, MBC medullary breast carcinoma, L left, R right, BC breast cancer, OC ovarian cancer, LC liver cancer, EC endometrial carcinoma, LuC lung cancer, BT brain tumor, RC rectal cancer, DCIS ductal carcinoma in situ, GbC Gallbladder cancer, GC gastric cancer, TC thyroid cancer, CC Colon cancer, EsC Esophagus cancer, PA prostate cancer, M mother, S sister, MS maternal sister, PA paternal aunt, MGM maternal grandmother, F father, MU maternal uncle, FU father uncle, MA maternal aunt, D daughter, PGF paternal grandfather, B brother, PU paternal uncle, ND not done, NA not available