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Table 1 Pathogenic germline BRCA1 mutations in breast and ovarian cancer patients from the Prague area

From: High proportion of recurrent germline mutations in the BRCA1 gene in breast and ovarian cancer patients from the Prague area

Family no.

Mutation description

Method of detection

No. of cancers in a family and age at onset

 

Exon

Traditional nomenclature

Approved nomenclature

Predicted effect

 

Breast cancer (bilateral)

Mean age at diagnosis

Other cancers (age at onset)

F-24

2

c.187_188delAG

c.68_69delAG

p.Glu23fsX39

Sequencing

1

35

Colon (54)

F-111

5

c.300T>G

c.181T>G

p.Cys61Gly

Sequencing

3

42

Stomach (51)

F-126

5

c.300T>G

c.181T>G

p.Cys61Gly

Sequencing

2

45

-

F-252

5

c.300T>G

c.181T>G

p.Cys61Gly

Sequencing

1

29

-

F-43

11

c.1135delA

c.1016delA

p.Lys339fsX340

PTT

2

41

Colon (50), lung (64)

F-361

11

c.1246delA

c.1127delA

p.Asn376fsX393

PTT

1

37

Ovarian (52, 54, 55)

F-21

11

c.1806C>T

c.1687C>T

p.Gln563X

PTT

1 (1)

46

Ovarian (43), melanoma (53)

F-397

11

c.1866A>Ta

c.1747A>Ta

p.Lys583Xa

PTT

-

-

Ovarian (39, 43)

F-249

11

c.2382G>T

c.2263G>T

p.Glu755X

PTT

4

53

Ovarian (41, 54)

F-61

11

c.2530_2531delAG

c.2411_2412delAG

p.Gln804fsX808

PTT

3

49

-

F-80

11

c.3450C>T

c.3331C>T

p.Gln1111X

PTT

2

52

-

F-305

11

c.3819_3823del5

c.3700_3704del5

p.Val1234fsX1241

PTT

1

38

Leukemia (67), lung (65)

F-337

11

c.3819_3823del5

c.3700_3704del5

p.Val1234fsX1241

PTT

3

44

-

F-347

11

c.3819_3823del5

c.3700_3704del5

p.Val1234fsX1241

PTT

2

42

-

F-390

11

c.3819_3823del5

c.3700_3704del5

p.Val1234fsX1241

PTT

1

42

Lung (56), kidney (65)

F-164

11

c.3875_3878delGTCT

c.3756_3759delGTCT

p.Leu1252fsX1262

PTT

2 (1)

42

Ovarian (40, 43), stomach (?)

F-245

12

c.4284_4285delAG

c.4165_4166delAG

p.Ser1389fsX

HDA

2

38

Ovarian (44, 50), kidney (75)

F-15

20

c.5385dupC

c.5266dupC

p.Gln1756fsX1829

Sequencing

1

32

-

F-75

20

c.5385dupC

c.5266dupC

p.Gln1756fsX1829

Sequencing

1

44

Ovarian (?, ?)

F-152

20

c.5385dupC

c.5266dupC

p.Gln1756fsX1829

Sequencing

2

58

Ovarian (72)

F-185

20

c.5385dupC

c.5266dupC

p.Gln1756fsX1829

Sequencing

3

51

Colon (?)

F-187

20

c.5385dupC

c.5266dupC

p.Gln1756fsX1829

Sequencing

3

48

Ovarian (56)

F-194

20

c.5385dupC

c.5266dupC

p.Gln1756fsX1829

Sequencing

4

43

Ovarian (52)

F-201

20

c.5385dupC

c.5266dupC

p.Gln1756fsX1829

Sequencing

2

41

-

F-239

20

c.5385dupC

c.5266dupC

p.Gln1756fsX1829

Sequencing

3

46

Ovarian (41), stomach (?)

F-243

20

c.5385dupC

c.5266dupC

p.Gln1756fsX1829

Sequencing

3 (1)

42

-

F-261

20

c.5385dupC

c.5266dupC

p.Gln1756fsX1829

Sequencing

2

29

-

F-265

20

c.5385dupC

c.5266dupC

p.Gln1756fsX1829

Sequencing

3 (1)

52

Ovarian (?)

F-273

20

c.5385dupC

c.5266dupC

p.Gln1756fsX1829

Sequencing

3

36

Ovarian (42), colon (51, 56)

F-331

20

c.5385dupC

c.5266dupC

p.Gln1756fsX1829

Sequencing

1 (1)

31

Uterus (60), colon (64)

F-342

20

c.5385dupC

c.5266dupC

p.Gln1756fsX1829

Sequencing

2

50

Ovarian (41), colon (?)

F-368

20

c.5385dupC

c.5266dupC

p.Gln1756fsX1829

Sequencing

4 (2)

37

Ovarian (40), kidney 78)

F-370

20

c.5385dupC

c.5266dupC

p.Gln1756fsX1829

Sequencing

2

49

Ovarian (55)

F-385

20

c.5385dupC

c.5266dupC

p.Gln1756fsX1829

Sequencing

1

52

Ovarian (61), colon (83), melanoma (79)

F-387

20

c.5385dupC

c.5266dupC

p.Gln1756fsX1829

Sequencing

3 (1)

36

-

  1. Position in cDNA is according to GenBank accession number U14680. aNovel mutations. HAD, heteroduplex analysis; PTT, protein truncation test.
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Breast Cancer Research

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