MUTYH -germline mutations and manifestations
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MUTYH-germline mutations and manifestations a. Biallelic mutation Family No. Age at Diagnosis Number of adenomas CRC Manifestation of other organs Family History 43 410 (well, ss) ( - ) ( + ) (sib) c. 833C>T p. A278V c. 833C>T p. A278V 56 420 (mod. m) ( - ) c. 833C>T p. A278V c. 833C>T p. A278V 47 200 c. 848G>A p. G283E c. 848G>A p. G283E 39 100 Ovarian cyst c. 55C>T p. R19X c. 833C>T p. A278V b. Monoallelic mutation Family No. Age at Diagnosis Number of adenomas CRC Manifestation of other organs Family History Monoallelic MUTYH mutation Mutation of the other MUTYH allele 1470 Gastric cancer IVS10 -2, a/g 46 200 c. 53C>T p. P18L ucleotide number of the CDS of the p: amino acid number of the MYH protein Biallelic MUTYH mutations (sporadic) ( - ) (+) (+) (sporadic) ( - ) (sporadic) ( - ) ( - ) ( - ) ( - ) ( + ) (sib) ( + ) (sib) ( - ) ( - ) ( - ) ( - ) 44 ① ② ③ ④ ⑤ ⑥ p q Human Chr. 1 5’ 3’ 1 2 10 11 16 1p34.3-p32.1 ( - )
description
p. q. 3’. 5’. ( - ). ( - ). ( - ). (sporadic). (sporadic). (sporadic). MUTYH -germline mutations and manifestations. Human Chr. 1. 1. 2. 10. 11. 16. 1p34.3-p32.1. a. Biallelic mutation. Manifestation. Age at. Number of. Family. Family No. CRC. of other. - PowerPoint PPT Presentation
Transcript of MUTYH -germline mutations and manifestations
MUTYH-germline mutations and manifestations
a. Biallelic mutation
Family No.Age at
DiagnosisNumber ofadenomas
CRCManifestation
of otherorgans
FamilyHistory
43 410 (well, ss) ( - ) ( + ) (sib)
c. 833C>Tp. A278V
c. 833C>Tp. A278V
56 420 (mod. m)( - ) c. 833C>T
p. A278Vc. 833C>Tp. A278V
47 200c. 848G>Ap. G283E
c. 848G>Ap. G283E
39 100 Ovarian cystc. 55C>Tp. R19X
c. 833C>Tp. A278V
b. Monoallelic mutation
Family No.Age at
DiagnosisNumber ofadenomas
CRCManifestation
of otherorgans
FamilyHistory
MonoallelicMUTYHmutation
Mutation ofthe otherMUTYH allele
1470Gastriccancer
IVS10 -2,a/g
46 200c. 53C>Tp. P18L
c: nucleotide number of the CDS of the p: amino acid number of the MYH protein
Biallelic MUTYH mutations
(sporadic)( - )
(+)
(+)
(sporadic)( - )
(sporadic)( - )
( - )( - )
( - )
( + ) (sib)
( + ) (sib)
( - )
( - ) ( - )
( - )44
①
②
③
④
⑤
⑥
p qHuman Chr. 1 5’ 3’
1 2 10 11 161p34.3-p32.1
( - )
