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

BRCA1

c.223G > T

p.Glu75Ter

No

IDC (R 44, L 54)

ER−/PR−/HER2-

S OC(52)

PA EC, PA LC, MU GC

c.1209delT

p.Glu404Asnfs

No

IDC (47), OC, TC

ER+/PR+/HER2-

M OC(52), MA OC(54)

c.1465G > T

p.Glu489Ter

Yes

IDC (51)

ER−/PR−/HER2-

S OC(52) and BC(58)

c.1945G > T

p.Glu649Ter

Yes

IDC (36)

ER−/PR−/HER2-

M BC(58)

c.2110_2111delAA

p.Asn704Cysfs

Yes

IDC (55)

ER−/PR−/HER2-

M BC(57)

IDC (68)

ER−/PR−/HER2-

S OC, D OC(40)

c.3266delA

p.Leu1089Cysfs

Yes

IDC (62)

ER−/PR−/HER2-

S OC(45)

S LC(65),

c.3295delC

p.Pro1099Leufs0

No

IDC (29)

ER−/PR−/HER2-

S BC(40)

c.3780_3781delAG

p.Leu1260Phefs

No

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

IDC (40)

ER+/PR+/HER2-

M BC(46)

c.4065_4068delTCAA

p.Asn1355Lysfs

Yes

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

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

IDC (32)

ER−/PR−/HER2-

S BC(L 35, R 37), M OC(47)

c.5173insA

p.Glu1725Argfs

Yes

IDC (42)

ER−/PR−/HER2-

S BC(48), MA BC(48)

M LC(51)

c.5251C > T

p.Arg1751Ter

Yes

IDC (47)

ND

S DCIS(57)

c.5467 + 1G > A

–

Yes

IDC (31)

ER+/PR+/HER2+

S BC(41), S BC(45), MA BC(51)

c.5468-1_5474del GCAATTGG

–

No

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

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

IDC (46)

ER+/PR+/HER2+

S BC(48)

c.469_473delAAGTC

p.Lys157Serfs

No

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

ILC (31)

ER+/PR+/HER2-

M BC(58)

c.755_758delACAG

p.Asp252Valfs

Yes

IDC (48)

ER+/PR+/HER2-

M OC(68)

c.784delG

p.Ala262Glnfs

No

IDC (43)

ER+/PR+/HER2-

S BC(43), PA BC(50)

F EsC(57), FU PC(56)

c.3109C>T

p.Gln1037Ter

Yes

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

IDC (55)

ER+/PR+/HER2-

S BC(55)

c.3596_3599delACTG

p.Asp1199Valfs

Yes

IDC (44)

NA

S BC(46), M BC(60)

c.4487delC

p.Pro1496Glnfs

No

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

IDC (41)

ER−/PR+/HER2-

S BC(43)

c.5682C > G

p.Tyr1894Ter

Yes

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

IDC (35)

NA

S BC(39), MGM BC(61), MS BC(50)

S LuC (52), MU LC(66)

c.6359C > G

p.Ser2120Ter

Yes

ILC (R 36, L 51), EC (55)

ER+/PR+/HER2-

M OC(76), MA BC(70)

c.7588C > T

p.Gln2530Ter

No

IDC (43)

ER+/PR+/HER2+

M BC(63)