Table 2 Age at cancer diagnosis, tumour histopathology and receptor status in hereditary breast cancer patients in relation to the gene-specific VUS

APC

c.1564 A > G

63

Invasive ductal

N/A

N/A

N/A

ATM

c.7502 A > G

c.7502 A > G

42

39

Invasive ductal

Invasive osteoclast like giant cells

+

+

+

+

-

-

BRCA1

c.3392 A > G

51

Invasive ductal

-

-

+

BRCA2

c.784G > A

c.2488 A > G

c.6231G > C

c.521G > A

c.8417 C > T

70

28

36

69

70

Invasive ductal

Invasive ductal

Invasive ductal

N/A

N/A

N/A

-

-

N/A

N/A

N/A

-

-

N/A

N/A

N/A

-

+

N/A

N/A

BRIP1

c.3103 C > T

51

Low grade ductal CAIS

N/A

N/A

N/A

CDKN2A

c.377 A > G

56

Adenocarcinoma

+

-

+

CHEK2

c.60G > T

c.1501G > A

51

44

Invasive ductal

Papillary

N/A

+

N/A

-

N/A

-

FANCI

c.3179T > C

46

N/A

N/A

N/A

N/A

MET

c.840G > T

42

High grade ductal CAIS

+

+

+

STK11

c.355 A > G

82

Invasive ductal

+

-

-

NF2

c.1522G > A

31

Invasive ductal

+

+

-