Table 1 Clinical and molecular characteristics of patients with mutations

GD22

45

FAP

yes (vertical)

osteomas, desmoids, duodenal cancer

c.646-1 G > A^b

7

Criptic splice site fsX292

GD23

n.a.

FAP

yes

c.4666dup^b

16

p.Thr1556_AsnfsX1558

GD31

72

FAP

yes (vertical)

>1000 polyps, colon cancer

c.3183_3187del^b

16

p.Lys1061_LysfsX1062

GD33

n.a

FAP

yes (vertical)

c.904 C > T^b

9

p.Arg302X

GD37

41

AFAP

yes (vertical)

ileal polyps, colon cancer,

c.1176_1177insT^b

10

p.His393_PhefsX396

GD38

35

FAP

yes (vertical)

CHRPE, osteomas

c.4717 G > T^b

16

p.Glu1573X

GD41

24

FAP

yes (vertical)

gastric and ileal polyps

c.2684 C > A^b

16

p.Ser895X

GD48

33

FAP

yes (vertical)

duodenal polyps

c.2758_2759del^b

16

p.Asp920_CysfsX922

GD57

22

FAP

no

c.2299 C > T^b

16

p.Gln767X

GD58

48

FAP

no

c.4393_4394del^b

16

p.Ser1465_TrpfsX1467

GD59

31

FAP

yes (vertical)

c.4192_4193del^b

16

p.Ser1398_SerfsX1407

GD74

27

FAP

yes (vertical)

>100 polyps, desmoids, colon cancer

ex15del

15

∆ 15

GD103

55

FAP

no

c.694 C > T^b

7

p.Arg232X

GD119

26

FAP

yes (vertical)

duodenal polyps, rectal cancer

c.2633delT

16

p.Leu878_CysfsX916

ᅟ

ᅟ

ᅟ

ᅟ

ᅟ

ᅟ

ᅟ

ᅟ

Case^a

Age at diagnosis

Phenotype

Family History (transmission)

Additional informations

MUTYH Mutation

Exon

Effect

GD68

45

AFAP

no

40 polyps

[c.536A > G]+

7, 12

[p.Tyr179Cys]+

[c.1163 T > C]^b

[p.Leu388Pro]

GD72

29

FAP

yes (vertical)

[c.536A > G] + [c.=]^b

7

[p.Tyr179Cys] + [p.=]

GD82#1

49

Multiple polyposis

yes (horizontal)

caecum cancer

[c.536A > G]+

7, 10

[p.Tyr179Cys]+

[c.820C > T]^b

[p.Arg274Trp]

GD82#2

54

Colon cancer

yes (horizontal)

[c.536A > G]+

7, 10

[p.Tyr179Cys]+

[c.820C > T]

[p.Arg274Trp]

GD91

30

Multiple polyposis

no

100 polyps

[c.1145del]+

12

[p.Ala382AlafsX407]+

[c.1145del]^b

[p.Ala382AlafsX407]

GD155

70

AFAP

no

[c.536A > G] + [c.=]

7

[p.Tyr179Cys] + [p.=]