Table 1 Gene, exon, mutation description, site of cancer in proband with age of onset and family history

1

BRCA1

12

c.4158_4162delCTCTC; p.Ser1369SerfsX2

[Acc No. AY144588]*

Breast

28

Mother – B (44 y)

MA – B (50 y)

MGM – B (50 y)

2

BRCA1

13

c.4327C>T; p.R1443X *

Breast

40

3 Sisters – B (35 y, 38 y, 48 y)

PA – B (64 y)

3

BRCA1

11C

c.1148_1149delAT;

p.Asn383Arg fsX6

[Acc No. AY458144]

Breast

38

2 Sisters (50 and 49 y)

4

BRCA1

14

c.4399C>T; p.Gln1467X

[Acc No. AY06912]

Breast (Metachronous Bil.) and uterine

38 (L)

40 (R)

43 (En)

2 sisters – B (39 y)

Mother – O (74 y)

5

BRCA1

16

c.4705_4706insTGGAATC; p.Ile1567fsx5

[Acc No. DQ075361]

Breast

45

Mother – O (58 y)

6

BRCA1

17

c.5024_5025insT;

p. Thr1675Thr fsX4

[Acc No. AY706913]

Ovarian

61

Daughter – O (39 y)

7

BRCA1

2

c.68_69delAG; p.Glu23Val fsX16

Breast

33

No family history

8

BRCA1

2

c.68_69delAG; p.Glu23Val fsX16

Breast

33

No family history

9

BRCA1

2

c.68_69delAG; p.Glu23Val fsX16

Breast

39

Mother – O (60 y)

10

BRCA1

2

c.68_69delAG; p.Glu23Val fsX16

Ovarian

59

Sister – O (44 y)

Daughter – B (39 y)

11

BRCA2

11O

c.6214_6218delCTTAA; p.Ser2072Ser fsX4 *

Breast

38

Mother – B (40 y)

12

BRCA2

1D

c.5130_5133delTGTA; p.Tyr1693X

Breast

27

No family history

13

BRCA1

2

c.66_67delAG; p. Leu22Leu fsX18

Breast

55

Mother – B (41 y)

O (55 y)

MA – B (47 y)

14

BRCA1

18

c.5118_5120delAAT; p.del1707Ile

[Acc No. FJ940752]

Breast

45

Mother – B (39 y)

MA – B (64 y)

Sister – B (33 y)

15

BRCA2

11G

c.2621_2627delAACTGTC;

p. Ile873Ile fsX19

Breast

35

Mother – Cervix (40 y)

MGM – B (60 y)

PA – U (52 y)