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Table 3 Clinical data of the carriers of damaging BRCA1 mutation

From: Spectrum and frequencies of BRCA1/2 mutations in Bulgarian high risk breast cancer patients

BC№

HGVS nomenclature

Diagnosis and age of onset

ER

PR

HER2

TNM

Grade

Stage

Other cancer in patient (age of onset)

Family history of cancer and age of diagnosis

3

c.5263_5264insC

BC (36)

NA

NA

NA

NA

NA

NA

DC (41)

Grandmother - BC (NA)

6

c.5263_5264insC

IDC (43)

-

1+

NA

pT2N0Mx

NA

II

OC (45)

Mother – BC (50), sister - BBC (42/53), grandmother – BC and OC (50)

7

c.5263_5264insC

BBC (42)

3+/−

3+/−

1+/1+

pT1N0M0/pT1bpN1M0

G2/G2

I/IIB

 

Grandmother - BC (76), aunt BC(81), father seminoma (NA), cousin with cancer of the oral cavity (NA)

17

c.5263_5264insC

IDC (34)

2+

2+

NA

NA

G2

NA

 

No

21

c.5263_5264insC

IDC (48)

NA

NA

NA

NA

NA

NA

OC (48)

Grandfather - GC (70), grandfather – BT (NA), PC (NA), aunt - CGO (50), cousin - BC (54)

28

c.181 T > G

BBC (52/60)

NA

NA

NA

NA

NA

NA

OC (52)

Brother with bone cancer (47)

37

c.4603G > T

IDC (37)

-

-

-

pT1cN1M0

G2

II

FtC (41)

Grandfather - PC (76), grandfather - LC (69), grandmother - CRC (60)

39

c.5263_5264insC

BBC(37/55)

NA/-

NA/-

NA/-

NA

NA

NA

 

Uncle - PrC (66)

73

c.5263_5264insC

IDLC (53)

-

-

-

pT2pN0M0

G3

II

 

Mother - BC (47) and CRC (71)

79

c.5263_5264insC

IDC (42)

NA

NA

1+

NA

NA

NA

 

Grandmother - GC(70), mother – BBC (27/30), uncle – leukemia (67), grandmother - CLv (75)

99

c.5263_5264insC

IDC (40)

NA

NA

NA

pT1N0M0

G2

NA

OC (46)

Grandmother – unknown cancer (>80), mother-CrC (NA), mother’s sister – Paget’s disease of the nipple (NA)

111

c.5263_5264insC

ACC (36)

-

-

-

NA

G1

NA

 

No

121

c.5263_5264insC

IDC (34)

-

-

-

pT1N0M0

G3

I

 

Father – pelvic cancer (NA), cousin - BC (30)

132

c.181 T > G

IDC (39)

-

-

-

pT1pN0M0

G2

I

 

Grandmother - BC (60), mother -BBC (32/40)

134

c.464delA

IDC (54)

-

-

-

pT1N1M0

G3

II

 

Aunt - BC (47), grandmother and grandmother’s sister - BC(NA), father - LC (NA)

140

c.5263_5264insC

IDC (32)

1+

2+

2+

pT2pN0M0

G2

IIa

 

Mother - BBC (31/37), grandmother - EC, CRC (50/53), grandfather - LC (59), grandmother - BC (NA)

142

c.5263_5264insC

IDC (31)

-

-

-

pT1pN0M0

G2-3

I

 

No

143

c.5263_5264insC

IDC (51)

-

-

-

pT2N0M0

G3

I

OC (51)

Uncle - PC (68), grandmother LC (44), cousin - OC (37)

152

c.5263_5264insC

BBC (41)

NA

NA

NA

NA

NA

NA

OC (58)

Mother - BBC (NA)

155

c.5263_5264insC

BC (29)

-

-

-

NA

NA

NA

 

Grandmother - BC, ThC (50/70), cousin - BC (50), cousin - OC (48)

161

c.5263_5264insC

IDC (43)

-

-

-

NA

NA

NA

 

Mother – OC (62)

164

c.5263_5264insC

IDC (45)

-

-

-

NA

NA

NA

 

Mother - BC (NA)

171

c.5263_5264insC

BC (53)

-

-

-

NA

NA

NA

OC (NA)

Grandmother - BC (43), mother - BC (53) and OC (63)

175

c.5263_5264insC

MBC (33)

-

-

-

pT1сN2M0

G2

II

 

No

194

c.5030_5033

IDC (63)

-

-

-

pT1N0M0

G2

NA

 

No

delCTAA

190

c.5263_5264insC

IDC (33)

-

-

-

pT1bpN0M0

G2

I

 

Grandmother - BC (47), mother - OC (52), grandfather - CRC (62)

204

c.5263_5264insC

BBC (35/48)

NA

NA

NA

NA

NA

NA

 

Mother with bladder cancer in doubt

205

c.5397_5403

IDC (51)

-

-

-

pT1pN1M0

G3

II

 

Grandmother - BC (30), father – PC (NA)

delCCCTTGG

  1. BC№ - case identifier, BC – breast cancer, BBC – bilateral breast cancer, IDC – invasive ductal carcinoma, ILC - invasive lobular carcinoma, IDLC - infiltrating ductal/ lobular cancer, MBC - medullary breast cancer, ACC – adenoid cystic carcinoma, ThC – throat cancer, LyC – laryngeal cancer, PC – prostate cancer, LC – lung cancer, CRC – colorectal carcinoma, PrC – pancreatic cancer, CLv – cancer of the liver, GC - gastric cancer, OC - ovarian cancer, BT - brain tumor, EC - endometrial cancer, CGO – cancer of genital organs, DC – dysplasia of the cervix, FtC – fallopian tube cancer, NA – not available, “-“negative for ER, PR and HER2