Table 2 Pathogenic variants (PV)

HNPCC

Ov

ATM

c.5979_5983delTAAAG

p.Ser1993Argfs

Frameshift

HNPCC

Ov

ATM

c.1339C > T

p.Arg447Ter

Nonsense

HBOC

Br

BLM

c.1642C > T

p.Gln548Ter

Nonsense

HBOC

Br

BRCA2

c.658_659delGT

p.Val220fs

Frameshift

HBOC

Br

BRCA2

c.2808_2811delACAA

p.Ala938fs

Frameshift

HBOC

Br

BRIP1

c.206-2A > G

–

Splicng

HNPCC

Ov

BRIP1

c.1140 + 1G > C^a

–

Splicng

HBOC

End

CHEK2

c.593-1G > T

–

Splicng

HBOC

Col

CHEK2

c.1427C > T

p.Thr476Met

Missense

HNPCC

Gas

MLH1

c.2239_2240insAGCCTGATACTATATCCTGCAGC

p.Pro747fs

Frameshift

HNPCC

Br

MSH2

c.211G > C

p.Gly71Arg

Missense

HNPCC

Br

MSH2

c.2131C > T

p.Arg711Ter

Nonsense

HNPCC

Br

MUTYH

c.1147delC

p.Ala385fs

Frameshift

HNPCC

Skin

MUTYH

c.1187G > A

p.Gly396Asp

Missense

HNPCC

Col

MUTYH

c.1187G > A

p.Gly396Asp

Missense

HNPCC

Gas

MUTYH

c.1187G > A

p.Gly396Asp

Missense

HNPCC

Col

MUTYH

c.1187G > A

p.Gly396Asp

Missense

HNPCC

Col

PMS2

c.137G > T

p.Ser46Ile

Missense