Table 2 Germline variants identified

47

MSH3

c.2180G > A

VUS

83

CDH1

c.394G > A

VUS

47

MSH6

c.1211A > G

VUS

42

MLH1

c.884 + 4A > G

Pathogenic

83

BLM

c.968A > G

VUS

47

RAD51

c.878C > T

VUS

47

CHEK2

c.1100delC

Pathogenic

47

CDKN2A

c.407dup

VUS

46

POLE

c.5744 T > C

VUS

7

MUTYH

c.700G > A

VUS

47

APC

c.-30,478 T > C

VUS

83

POLE

c.3881G > T

VUS

47

APC

c.423-3_423-2del

VUS

47

MSH6

c.2979A > G

VUS

29

CHEK2

del exon 13

VUS

47

APC

c.5140G > A

VUS

29

POLD1

c.1040C > T

VUS

29

TP53

c.814G > T

VUS