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Table 1 Small pathogenic variants of BRCA1 and BRCA2 in 218 familial breast and/or ovarian cancer patients

From: Comprehensive mutation detection of BRCA1/2 genes reveals large genomic rearrangements contribute to hereditary breast and ovarian cancer in Chinese women

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)  
  1. 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