Table 1 Clinical and molecular description of the BRCA1 , BRCA2, CHEK2 1100delC and TP53 R337H mutation carriers

SM-01

39

Breast

HBOC

BRCA1

c.5203delTT

Frameshift

18

BIC

SM-17

49/51

Ovarian/Breast

HBOC

BRCA1

c.3376 T > G; p.L1086X

Nonsense

11

BIC

SM-25

69

Breast

HBOC

BRCA1

c.120A > G; p.M1V

Missense

2

BIC

SM-69

33

Breast

HBOC

BRCA1

c.5242C > A; p.A1708E

Missense

18

BIC

SM-74

50

Hemangioblastoma

HBOC

BRCA1

c.2080delA

Frameshift

11

BIC

MO-07

34

Breast

HBOC

BRCA1

c.5382insC

Frameshift

20

BIC

MO-09

42

Breast

HBOC

BRCA1

c.5382insC

Frameshift

20

BIC

MO-45

48

Breast

HBOC

BRCA1

c.5382insC

Frameshift

20

BIC

MO-13

32/44

Breast/Skin

HBOC

BRCA1

c.4831del5

Frameshift

16

BIC

MO-26

37

Breast

HBOC

BRCA1

c.1499insA

Frameshift

11

BIC

MO-31

38/63

Breast/Peritoneal

HBOC

BRCA1

c.5563G > A; p.W1815X

Nonsense

23

BIC

MO-37

(-)

Breast

HBOC

BRCA1

c.3759G > T; p.E1214X

Nonsense

11

BIC

MO-38

42/44

Breast/Breast

HBOC

BRCA1

c.307 T > A; p.L63X

Nonsense

5

BIC

SM-50

36/47

Breast/Breast

HBOC

BRCA1

c.4794 + 1G > A

Splice site

15

BIC

SM-80

42/48

Breast/Ovarian

HBOC

BRCA1

c.1446 A > T; p.K443X

Nonsense

11

Current study

SM-81

55

Fallopian Tube

HBOC

BRCA1

c.5582insT

Frameshift

23

Current study

SM-89

40

Breast

HBOC

BRCA1

c.4406 C > A; p.Y1429X

Nonsense

13

Current study

MO-15

43/56

Breast/Ovarian

HBOC

BRCA1

c.560 + 2 T > A

Splice site

7

Carraro et al. [28]

M0-28

48

Breast

HBOC

BRCA1

Exon 24 amplification

LGR

24

Current study

SM-03

36/36

Breast/Ovarian

HBOC

BRCA1

Exon 16–17 deletion

LGR

16-17

BIC

SM-08

33

Breast

HBOC

BRCA2

c.6174delT

Frameshift

11

BIC

SM-46

32

Breast

HBOC

BRCA2

c.9709 A > T; p.K3161X

Nonsense

25

BIC

SM-61

51

Breast

HBOC

BRCA2

c.9709A > T; p.K3161X

Nonsense

25

BIC

SM-104

32

Breast

HBOC

BRCA2

c.3034del4

Frameshift

11

BIC

MO-02

53/63

Breast/Breast

HBOC

BRCA2

c.9610C > T, p.R3128X

Nonsense

25

BIC

SM-53

30/49

Breast/Thyroid

HBOC

BRCA2

c.6242del4

Frameshift

11

Current study

SM-84

35

Breast

HBOC

BRCA2

c.8423 T > G; p.L2732X

Nonsense

18

Current study

MO-41

47

Breast

HBOC

CHEK2

c.1100delC; p.Thr367MetfsX15

Frameshift

10

BIC

SM-31

49

Breast

HBOC

TP53

c.1010G > A; p.R337H

Missense

10

IARC TP53

SM-31

49

Breast

HBOC

TP53

c.1010G > A; p.R337H

Missense

10

IARC TP53

SM-82

29

Breast

HBOC

TP53

c.1010G > A; p.R337H

Missense

10

IARC TP53