スライド 1

MUTYH-germline mutations and manifestations
Human
Chr. 1
p
q
3’
5’
1
1p34.3-p32.1
2
10 11
16
a. Biallelic mutation
Age at
Number of
Family No.
Diagnosis adenomas
①
②
③
④
43
56
47
39
410
CRC
(+)
Manifestation
of other
organs
Family
History
(+)
(well, ss)
(-)
(+)
(-)
(+)
420
(mod. m)
200
(-)
(-)
100
(-)
Ovarian cyst
CRC
Manifestation
of other
organs
(sib)
(sib)
(-)
(sporadic)
(+)
(sib)
Biallelic MUTYH mutations
c. 833C>T
p. A278V
c. 833C>T
p. A278V
c. 848G>A
p. G283E
c. 55C>T
p. R19X
c. 833C>T
p. A278V
c. 833C>T
p. A278V
c. 848G>A
p. G283E
c. 833C>T
p. A278V
b. Monoallelic mutation
Age at
Number of
Family No.
Diagnosis adenomas
⑤
⑥
46
44
200
(-)
1470
(-)
c: nucleotide number of the CDS of the
(-)
Gastric
cancer
Family
History
Monoallelic Mutation of
MUTYH
the other
mutation
MUTYH allele
(-)
c. 53C>T
(sporadic) p. P18L
IVS10 -2,
(-)
(sporadic) a/g
p: amino acid number of the MYH protein
(-)
(-)

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