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MUTYH -germline mutations and manifestations

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.

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MUTYH -germline mutations and manifestations

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  1. 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 Biallelic MUTYH mutations Diagnosis adenomas History organs (+) ① ( + ) (sib) c. 833C>T c. 833C>T ( - ) 43 410 (well, ss) p. A278V p. A278V (+) ( + ) (sib) ( - ) ② c. 833C>T c. 833C>T 56 420 (mod. m) p. A278V p. A278V c. 848G>A c. 848G>A ③ ( - ) ( - ) 47 200 p. G283E p. G283E ( + ) (sib) c. 55C>T c. 833C>T ④ ( - ) 39 100 Ovarian cyst p. R19X p. A278V b. Monoallelic mutation Manifestation Monoallelic Mutation of Age at Number of Family Family No. CRC of other MUTYH the other Diagnosis adenomas History organs mutation MUTYH allele ⑤ c. 53C>T ( - ) ( - ) ( - ) 46 200 p. P18L IVS10 -2, ⑥ Gastric ( - ) ( - ) 44 1470 a/g cancer c: nucleotide number of the CDS of the p: amino acid number of the MYH protein

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