OMIM: 609310Inheritance: Autosomal dominant
Classification: Neoplasms
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | MLH1 |
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| Dna Change: | c.731G>A |
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| Protein Change: | p.Gly244Asp |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon 9 |
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| Transcript: | NM_000249.3 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Italy | NA | Apulia region | 12 patients/3 families | NA | Lastella P et al., 2011Lastella P, Patruno M, Forte G, Montanaro A, Di Gregorio C, Sabbà C, Suppressa P, Piepoli A, Panza A, Andriulli A, Resta N, Stella A, . Identification and surveillance of 19 Lynch syndrome families in southern Italy: report of six novel germline mutations and a common founder mutation.. Fam. Cancer. 2011; 10(2):285-95 |
| Gene/Locus: | MLH1 |
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| Dna Change: | c.1731G>A |
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| Protein Change: | Loss of exon 15 |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Splice site |
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| Location: | exon 15 |
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| Transcript: | NM_000249.3 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Italy | NA | Apulia region | 2 patients/2 families | NA | Lastella P et al., 2011Lastella P, Patruno M, Forte G, Montanaro A, Di Gregorio C, Sabbà C, Suppressa P, Piepoli A, Panza A, Andriulli A, Resta N, Stella A, . Identification and surveillance of 19 Lynch syndrome families in southern Italy: report of six novel germline mutations and a common founder mutation.. Fam. Cancer. 2011; 10(2):285-95 |
| Gene/Locus: | MLH1 |
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| Dna Change: | c.1558+1G>T |
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| Protein Change: | |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Silent mutation |
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| Location: | intron 13 |
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| Transcript: | NM_000249.3 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Italy | NA | Apulia region | 13 patients/2 families | NA | Lastella P et al., 2011Lastella P, Patruno M, Forte G, Montanaro A, Di Gregorio C, Sabbà C, Suppressa P, Piepoli A, Panza A, Andriulli A, Resta N, Stella A, . Identification and surveillance of 19 Lynch syndrome families in southern Italy: report of six novel germline mutations and a common founder mutation.. Fam. Cancer. 2011; 10(2):285-95 |
| Gene/Locus: | MLH1 |
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| Dna Change: | c.1831_1832delAT (c.1831delAT) |
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| Protein Change: | p.Ile611CysfsX2 |
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| Mutation Type: | Deletion |
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| Mutation Effect: | Frameshift |
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| Location: | |
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| Transcript: | NM_000249.3 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Italy | Italian-Quebec | NA | 2 families | NA | Thiffault I et al., 2004Thiffault I, Foulkes WD, Marcus VA, Farber D, Kasprzak L, MacNamara E, Wong N, Hutter P, Radice P, Bertario L, Chong G, . Putative common origin of two MLH1 mutations in Italian-Quebec hereditary non-polyposis colorectal cancer families.. Clin. Genet.. 2004; 66(2):137-43 |
| Gene/Locus: | MLH1 |
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| Dna Change: | c.545+3A>G (IVS6+3A>G) |
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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 6 |
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| Transcript: | NM_000249.3 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Italy | Italian-Quebec | NA | 2 families | NA | Thiffault I et al., 2004Thiffault I, Foulkes WD, Marcus VA, Farber D, Kasprzak L, MacNamara E, Wong N, Hutter P, Radice P, Bertario L, Chong G, . Putative common origin of two MLH1 mutations in Italian-Quebec hereditary non-polyposis colorectal cancer families.. Clin. Genet.. 2004; 66(2):137-43 |
| Gene/Locus: | MLH1 |
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| Dna Change: | c.2269_2270insT |
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| Protein Change: | p.*757LeuextX33 |
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| Mutation Type: | Insertion |
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| Mutation Effect: | Frameshift |
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| Location: | UTR 3 prime |
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| Transcript: | NM_000249.3 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Italy | NA | Northern | NA | NA | Caluseriu O et al., 2004Caluseriu O, Di Gregorio C, Lucci-Cordisco E, Santarosa M, Trojan J, Brieger A, Benatti P, Pedroni M, Colibazzi T, Bellacosa A, Neri G, Ponz de Leon M, Viel A, Genuardi M, . A founder MLH1 mutation in families from the districts of Modena and Reggio-Emilia in northern Italy with hereditary non-polyposis colorectal cancer associated with protein elongation and instability.. J. Med. Genet.. 2004; 41(3):e34 |
References
Caluseriu O, Di Gregorio C, Lucci-Cordisco E, Santarosa M, Trojan J, Brieger A, Benatti P, Pedroni M, Colibazzi T, Bellacosa A, Neri G, Ponz de Leon M, Viel A, Genuardi M, A founder MLH1 mutation in families from the districts of Modena and Reggio-Emilia in northern Italy with hereditary non-polyposis colorectal cancer associated with protein elongation and instability.J. Med. Genet.. 2004; 41(3):e34
Lastella P, Patruno M, Forte G, Montanaro A, Di Gregorio C, Sabbà C, Suppressa P, Piepoli A, Panza A, Andriulli A, Resta N, Stella A, Identification and surveillance of 19 Lynch syndrome families in southern Italy: report of six novel germline mutations and a common founder mutation.Fam. Cancer. 2011; 10(2):285-95
Thiffault I, Foulkes WD, Marcus VA, Farber D, Kasprzak L, MacNamara E, Wong N, Hutter P, Radice P, Bertario L, Chong G, Putative common origin of two MLH1 mutations in Italian-Quebec hereditary non-polyposis colorectal cancer families.Clin. Genet.. 2004; 66(2):137-43