Table 3 Germline pathogenic variants of BRCA1 in breast and ovarian cancer families in La Rioja

2

c.68_69delAG

p.Glu23ValfsTer17

rs80357914

2

[23,24,25]

3

c.81–2 A > T

rs397509326

2

[22]

5

c.135–2 A > G

--

rs80358065

1

[27, 28]

5

c.211 A > G

p.Arg71Gly

rs80357382

3

[5]

7

c.303T > G

p.Tyr101Ter

rs80356936

1

[4, 29, 30]

8

c.442-1G > T

--

rs1351019392

1

[31]

11

c.959delG

p.Arg320AspfsTer20

1

Not described

11

c.1912delG

p.Glu638AsnfsTer13

rs80357933

1

[7,8,9,10]

11

c.1961delA

p.Lys654Serfs

rs80357522

1

[7,8,9,10]

11

c.3607 C > T

p.Arg1203Ter

rs62625308

1

[7,8,9,10]

11

c.4038_4039delAA

p.Gly1348AsnfsTer7

rs273900721

2

[7]

15

c.4591delG

p.Val1531fs

rs886040238

1

Not published

15

c.4675 + 1G > A

--

rs80358044

1

[33, 34]

18

c.5123 C > A

p.Ala1708Glu

rs28897696

8

[8]

20

c.5194-2A> G

--

rs80358069

1

[7, 11,12,13]

20

c.5266dupC

p.Gln1756fs

rs80357906

2

[26]

24

c.5536 C > T

p.Gln1846Ter

rs80356873

1

[35, 36]

Large

Genomic

Rearrangements

1ª-1B-2

BRCA1

Del Ex 1ª-1B-2

1

[14]

22 y 23

BRCA1

Del Ex 22 y 23

NM_007294.4

1

[14]