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Last update

21/6/2017

Gene: mutL homolog 1; MLH1

Gene Symbol: MLH1
OMIM: 120436
Chromosome location: 3p22.2

Related informations: NCBI Gene Genome Browser Ensembl UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD

Colorectal cancer, hereditary nonpolyposis, type 2 || c.731G>A

Phenotype:	Colorectal cancer, hereditary nonpolyposis, type 2
Dna Change:	c.731G>A
Protein Change:	p.Gly244Asp
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 9
Transcript:	NM_000249.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
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

Colorectal cancer, hereditary nonpolyposis, type 2 || c.1731G>A

Phenotype:	Colorectal cancer, hereditary nonpolyposis, type 2
Dna Change:	c.1731G>A
Protein Change:	Loss of exon 15
Mutation Type:	Substitution
Mutation Effect:	Splice site
Location:	exon 15
Transcript:	NM_000249.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
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

Colorectal cancer, hereditary nonpolyposis, type 2 || c.1558+1G>T

Phenotype:	Colorectal cancer, hereditary nonpolyposis, type 2
Dna Change:	c.1558+1G>T
Protein Change:
Mutation Type:	Substitution
Mutation Effect:	Silent mutation
Location:	intron 13
Transcript:	NM_000249.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
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

Colorectal cancer, hereditary nonpolyposis, type 2 || c.1831_1832delAT (c.1831delAT)

Phenotype:	Colorectal cancer, hereditary nonpolyposis, type 2
Dna Change:	c.1831_1832delAT (c.1831delAT)
Protein Change:	p.Ile611CysfsX2
Mutation Type:	Deletion
Mutation Effect:	Frameshift
Location:
Transcript:	NM_000249.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
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

Colorectal cancer, hereditary nonpolyposis, type 2 || c.545+3A>G (IVS6+3A>G)

Phenotype:	Colorectal cancer, hereditary nonpolyposis, type 2
Dna Change:	c.545+3A>G (IVS6+3A>G)
Protein Change:
Mutation Type:	Substitution
Mutation Effect:	Splice site
Location:	intron 6
Transcript:	NM_000249.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
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

Colorectal cancer, hereditary nonpolyposis, type 2 || c.2269_2270insT

Phenotype:	Colorectal cancer, hereditary nonpolyposis, type 2
Dna Change:	c.2269_2270insT
Protein Change:	p.*757LeuextX33
Mutation Type:	Insertion
Mutation Effect:	Frameshift
Location:	UTR 3 prime
Transcript:	NM_000249.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
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

Colorectal cancer, hereditary nonpolyposis, type 1 (Lynch syndrome) || c.1865T>A

Phenotype:	Colorectal cancer, hereditary nonpolyposis, type 1 (Lynch syndrome)
Dna Change:	c.1865T>A
Protein Change:	p.Leu622His
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 16
Transcript:	NM_000249.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Spain	NA	NA	12 families/ 57 families	from 12 to 22 generations	Borràs E et al., 2010Borràs E, Pineda M, Blanco I, Jewett EM, Wang F, Teulé A, Caldés T, Urioste M, Martínez-Bouzas C, Brunet J, Balmaña J, Torres A, Ramón y Cajal T, Sanz J, Pérez-Cabornero L, Castellví-Bel S, Alonso A, Lanas A, González S, Moreno V, Gruber SB, Rosenberg NA, Mukherjee B, Lázaro C, Capellá G, . MLH1 founder mutations with moderate penetrance in Spanish Lynch syndrome families.. Cancer Res.. 2010; 70(19):7379-91

Colorectal cancer, hereditary nonpolyposis, type 1 (Lynch syndrome) || c.306+5G>A

Phenotype:	Colorectal cancer, hereditary nonpolyposis, type 1 (Lynch syndrome)
Dna Change:	c.306+5G>A
Protein Change:
Mutation Type:	Substitution
Mutation Effect:	Splice site
Location:	intron 3
Transcript:	NM_000249.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Spain	NA	NA	17 families/57 families	from 53 to 122 generations	Borràs E et al., 2010Borràs E, Pineda M, Blanco I, Jewett EM, Wang F, Teulé A, Caldés T, Urioste M, Martínez-Bouzas C, Brunet J, Balmaña J, Torres A, Ramón y Cajal T, Sanz J, Pérez-Cabornero L, Castellví-Bel S, Alonso A, Lanas A, González S, Moreno V, Gruber SB, Rosenberg NA, Mukherjee B, Lázaro C, Capellá G, . MLH1 founder mutations with moderate penetrance in Spanish Lynch syndrome families.. Cancer Res.. 2010; 70(19):7379-91

Colorectal cancer, hereditary nonpolyposis, type 1 (Lynch syndrome) || c.2252_2253delAA

Phenotype:	Colorectal cancer, hereditary nonpolyposis, type 1 (Lynch syndrome)
Dna Change:	c.2252_2253delAA
Protein Change:	p.Lys751SerfsX3
Mutation Type:	Deletion
Mutation Effect:	Frameshift
Location:	exon 19
Transcript:	NM_000249.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Italy	NA	south-west of Turin	11 unrelated families/ 140 families	1550 years ago	Borelli I et al., 2014Borelli I, Casalis Cavalchini GC, Del Peschio S, Micheletti M, Venesio T, Sarotto I, Allavena A, Delsedime L, Barberis MA, Mandrile G, Berchialla P, Ogliara P, Bracco C, Pasini B, . A founder MLH1 mutation in Lynch syndrome families from Piedmont, Italy, is associated with an increased risk of pancreatic tumours and diverse immunohistochemical patterns.. Fam. Cancer. 2014; 13(3):401-13

References

Borelli I, Casalis Cavalchini GC, Del Peschio S, Micheletti M, Venesio T, Sarotto I, Allavena A, Delsedime L, Barberis MA, Mandrile G, Berchialla P, Ogliara P, Bracco C, Pasini B, A founder MLH1 mutation in Lynch syndrome families from Piedmont, Italy, is associated with an increased risk of pancreatic tumours and diverse immunohistochemical patterns.Fam. Cancer. 2014; 13(3):401-13

Borràs E, Pineda M, Blanco I, Jewett EM, Wang F, Teulé A, Caldés T, Urioste M, Martínez-Bouzas C, Brunet J, Balmaña J, Torres A, Ramón y Cajal T, Sanz J, Pérez-Cabornero L, Castellví-Bel S, Alonso A, Lanas A, González S, Moreno V, Gruber SB, Rosenberg NA, Mukherjee B, Lázaro C, Capellá G, MLH1 founder mutations with moderate penetrance in Spanish Lynch syndrome families.Cancer Res.. 2010; 70(19):7379-91

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

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Gene: mutL homolog 1; MLH1

References