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Table 2 BRCA1/2 mutations in ovarian cancer patients: clinical aspects and molecular description

From: Germline mutations in BRCA1 and BRCA2 in epithelial ovarian cancer patients in Brazil

ID

HGVS cDNA

HGVS protein

BIC name

Type

Age

Ancestry

HT

CS

FH

Reference

BRCA1

21

c.791_794delGTTC

p.Ser264Metfs

910del4

F

50–59

BRZ

S

III

NC

[30]

18

c.961_962delTG

p.(Trp321fs)

ND

F

50–59

BRZ

S

III

-

Current Study

49

c.1687C > T

p.Gln563Ter

1806C > T

N

40–49

BRZ

S

III

+

[30]

39

c.2215A > T

p.Lys739Ter

K739X

N

50–59 (BC ≀50)

BRZ

S

III

NC

[BIC]

17

c.3331_3334delCAAG

p.Gln1111Asnfs

3450del4

F

30–39

IND/BRZ/EUR

S

III

+

[5, 11, 13, 30]

42

c.3331_3334delCAAG

p.Gln1111Asnfs

3450del4

F

50–59

IND/BRZ/EUR

S

III

+

[5, 11, 13, 30]

107

c.3331_3334delCAAG

p.Gln1111Asnfs

3450del4

F

50–59 (BC ≀50)

BRZ/EUR

E

III

+

[5, 11, 13, 30]

50

c.4484G > T

p.Arg1495Met

R1495M

M

30–39

BRZ

S

III

-

[4]

37

c.4484G > T

p.Arg1495Met

R1495M

M

50–59

IND/BRZ

S

IV

+

[4]

106

c.4675+1G > A

-

IVS15+1G >A

Ss

40–49

BRZ/EUR

S

III

-

[4]

67

c.5074+2 T > C

-

IVS17+2 T >C

Ss

60–69

BRZ/EUR

S

III

+

[BIC]

85

c.5098_5098delA

p.Thr1700Hisfs

5217delA

F

40–49

BRZ/EUR

S

IV

-

[BIC]

26

c.5266dupC

p.Gln1756Profs

5382insC

F

50–59

EUR

S

IV

+

[11, 13, 32]

56

c.5266dupC

p.Gln1756Profs

5382insC

F

50–59 (BC ≀50)

BRZ

S

III

+

[11, 13, 32]

108

c.5266dupC

p.Gln1756Profs

5382insC

F

40–49

IND/BRZ

S

III

UK

[11, 13, 32]

101

Exon 1–2 deleteda

-

-

LGR

50–59

BRZ

S

III

+

[37, 38]

9

Exon 5–7 deleteda

-

-

LGR

50–59

BRZ /EUR

S

III

-

[37, 38]

BRCA2

74

c.1963_1963delC

p.(Pro655fs)

ND

F

60–69

EUR

S

III

+

Current Study

102

c.5576_5579delTTAA

p.Ile1859_Lys1860?fs

5804del4

F

60–69

JAP

S

III

+

[30]

  1. ID patient identification; Type: F frameshift, N nonsense, M missense, Ss splice site, LGR large genomic rearrangement; Age in years (range); BC previous breast cancer history; Ancestry: BRZ Brazilian, IND Indigenous, EUR European, JAP Japanese, CS clinical stage, HT histological type, S serous, E endometrioid, FH family history for breast and/or ovarian cancer: (+): present, (−): absent, NC not completely known, UK unknown, BIC breast cancer information core, ND not described mutation
  2. aIndicates mutations detected by MLPA