OMIM: 608456Inheritance: Multiple
Classification: Neoplasms
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | MUTYH |
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| Dna Change: | c.1227_1228dup |
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| Protein Change: | p.Glu410GlyfsX43 |
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| Mutation Type: | Duplication |
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| Mutation Effect: | Frameshift |
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| Location: | exon 13 |
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| Transcript: | NM_001128425.1 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Algeria | NA | NA | 5 families/13 families were originally from North Africa | NA | Lefevre JH et al., 2011Lefevre JH, Colas C, Coulet F, Baert-Desurmont S, Mongin C, Tiret E, Frebourg T, Soubrier F, Parc Y, . Frequent mutation in North African patients with MUTYH-associated polyposis.. Clin. Genet.. 2011; 80(4):389-93 |
| Morocco | NA | NA | 1 family/13 families were originally from North Africa | NA | Lefevre JH et al., 2011Lefevre JH, Colas C, Coulet F, Baert-Desurmont S, Mongin C, Tiret E, Frebourg T, Soubrier F, Parc Y, . Frequent mutation in North African patients with MUTYH-associated polyposis.. Clin. Genet.. 2011; 80(4):389-93 |
| Tunisia | NA | NA | 4 families/13 families were originally from North Africa | NA | Lefevre JH et al., 2011Lefevre JH, Colas C, Coulet F, Baert-Desurmont S, Mongin C, Tiret E, Frebourg T, Soubrier F, Parc Y, . Frequent mutation in North African patients with MUTYH-associated polyposis.. Clin. Genet.. 2011; 80(4):389-93 |
| Tunisia | NA | NA | 13 % | NA | Abdelmaksoud-Dammak R et al., 2012Abdelmaksoud-Dammak R, Miladi-Abdennadher I, Amouri A, Tahri N, Ayadi L, Khabir A, Frikha F, Gargouri A, Mokdad-Gargouri R, . High prevalence of the c.1227_1228dup (p.Glu410GlyfsX43) mutation in Tunisian families affected with MUTYH-associated-polyposis.. Fam. Cancer. 2012; 11(3):503-8 |
| Gene/Locus: | MUTYH |
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| Dna Change: | c.933+3A>C |
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| Protein Change: | |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Splice site |
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| Location: | intron 11 |
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| Transcript: | NM_001128425.1 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Italy | NA | North-Eastern | 11 patients/11 unrelated families | 83 generations ago | Pin E et al., 2013Pin E, Pastrello C, Tricarico R, Papi L, Quaia M, Fornasarig M, Carnevali I, Oliani C, Fornasin A, Agostini M, Maestro R, Barana D, Aretz S, Genuardi M, Viel A, . MUTYH c.933+3A>C, associated with a severely impaired gene expression, is the first Italian founder mutation in MUTYH-Associated Polyposis.. Int. J. Cancer. 2013; 132(5):1060-9 |
| Gene/Locus: | MUTYH |
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| Dna Change: | c.536A>G |
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| Protein Change: | p.Tyr179Cys |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon 7 |
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| Transcript: | NM_001128425.1 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Italy | NA | NA | NA | 6950 years ago (278 generations) | Aretz S et al., 2014Aretz S, Tricarico R, Papi L, Spier I, Pin E, Horpaopan S, Cordisco EL, Pedroni M, Stienen D, Gentile A, Panza A, Piepoli A, de Leon MP, Friedl W, Viel A, Genuardi M, . MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events.. Eur. J. Hum. Genet.. 2014; 22(7):923-9 |
| Gene/Locus: | MUTYH |
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| Dna Change: | c.1187G>A |
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| Protein Change: | p.Gly396Asp |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon 13 |
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| Transcript: | NM_001128425.1 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Italy | NA | NA | NA | 7500 years ago (300 generations) | Aretz S et al., 2014Aretz S, Tricarico R, Papi L, Spier I, Pin E, Horpaopan S, Cordisco EL, Pedroni M, Stienen D, Gentile A, Panza A, Piepoli A, de Leon MP, Friedl W, Viel A, Genuardi M, . MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events.. Eur. J. Hum. Genet.. 2014; 22(7):923-9 |
References
Abdelmaksoud-Dammak R, Miladi-Abdennadher I, Amouri A, Tahri N, Ayadi L, Khabir A, Frikha F, Gargouri A, Mokdad-Gargouri R, High prevalence of the c.1227_1228dup (p.Glu410GlyfsX43) mutation in Tunisian families affected with MUTYH-associated-polyposis.Fam. Cancer. 2012; 11(3):503-8
Aretz S, Tricarico R, Papi L, Spier I, Pin E, Horpaopan S, Cordisco EL, Pedroni M, Stienen D, Gentile A, Panza A, Piepoli A, de Leon MP, Friedl W, Viel A, Genuardi M, MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events.Eur. J. Hum. Genet.. 2014; 22(7):923-9
Lefevre JH, Colas C, Coulet F, Baert-Desurmont S, Mongin C, Tiret E, Frebourg T, Soubrier F, Parc Y, Frequent mutation in North African patients with MUTYH-associated polyposis.Clin. Genet.. 2011; 80(4):389-93
Pin E, Pastrello C, Tricarico R, Papi L, Quaia M, Fornasarig M, Carnevali I, Oliani C, Fornasin A, Agostini M, Maestro R, Barana D, Aretz S, Genuardi M, Viel A, MUTYH c.933+3A>C, associated with a severely impaired gene expression, is the first Italian founder mutation in MUTYH-Associated Polyposis.Int. J. Cancer. 2013; 132(5):1060-9