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A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]

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A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Last update

21/6/2017

Phenotype: Colorectal cancer, hereditary nonpolyposis, type 1 (Lynch syndrome)

OMIM: 120435
Inheritance: Autosomal dominant
Classification: Neoplasms

Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials

MSH2 || c.1277-1180_1386+2226del3516insCATTCTCTTTGAAAA

Gene/Locus:	MSH2
Dna Change:	c.1277-1180_1386+2226del3516insCATTCTCTTTGAAAA
Protein Change:
Mutation Type:	Indel
Mutation Effect:	Frameshift
Location:	exon 8
Transcript:	NG_007110.2

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Italy	NA	Sardinia	8 families/13 families	NA	Borelli I et al., 2013Borelli I, Barberis MA, Spina F, Casalis Cavalchini GC, Vivanet C, Balestrino L, Micheletti M, Allavena A, Sala P, Carcassi C, Pasini B, . A unique MSH2 exon 8 deletion accounts for a major portion of all mismatch repair gene mutations in Lynch syndrome families of Sardinian origin.. Eur. J. Hum. Genet.. 2013; 21(2):154-61

MSH2 || c.1276+198_1386+3761del19280

Gene/Locus:	MSH2
Dna Change:	c.1276+198_1386+3761del19280
Protein Change:
Mutation Type:	Deletion
Mutation Effect:	Frameshift
Location:	exon 8
Transcript:	NG_007110.2

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Italy	NA	Sardinia	2 families/13 families	NA	Borelli I et al., 2013Borelli I, Barberis MA, Spina F, Casalis Cavalchini GC, Vivanet C, Balestrino L, Micheletti M, Allavena A, Sala P, Carcassi C, Pasini B, . A unique MSH2 exon 8 deletion accounts for a major portion of all mismatch repair gene mutations in Lynch syndrome families of Sardinian origin.. Eur. J. Hum. Genet.. 2013; 21(2):154-61

MSH2 || c.2063T>G

Gene/Locus:	MSH2
Dna Change:	c.2063T>G
Protein Change:	p.Met688Arg
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 13
Transcript:	NM_000251.2

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Spain	NA	Tenerife	5 families	NA	Martín-López JV et al., 2012Martín-López JV, Barrios Y, Medina-Arana V, Andújar M, Lee S, Gu L, Li GM, Rüschoff J, Salido E, Fishel R, . The hMSH2(M688R) Lynch syndrome mutation may function as a dominant negative.. Carcinogenesis. 2012; 33(9):1647-54
Spain	NA	Tenerife	5 families	NA	Medina-Arana V et al., 2006Medina-Arana V, Barrios Y, Fernández-Peralta A, Herrera M, Chinea N, Lorenzo N, Jiménez A, Martín-López JV, González-Hermoso F, Salido E, González-Aguilera JJ, . New founding mutation in MSH2 associated with hereditary nonpolyposis colorectal cancer syndrome on the Island of Tenerife.. Cancer Lett.. 2006; 244(2):268-73

MLH1 || c.1865T>A

Gene/Locus:	MLH1
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

MLH1 || c.306+5G>A

Gene/Locus:	MLH1
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

MSH2 || c.2210G>A

Gene/Locus:	MSH2
Dna Change:	c.2210G>A
Protein Change:	p.Arg737Lys
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 13
Transcript:	NM_000251.2

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Turkey	NA	NA	5 patients/28 patients	NA	Tunca B et al., 2010Tunca B, Pedroni M, Cecener G, Egeli U, Borsi E, Zorluoglu A, Di Gregorio C, Yilmazlar T, Yerci O, de Leon MP, . Analysis of mismatch repair gene mutations in Turkish HNPCC patients.. Fam. Cancer. 2010; 9(3):365-76

MSH2 || c.[2635-3T>C; 2635-5C>T]

Gene/Locus:	MSH2
Dna Change:	c.[2635-3T>C; 2635-5C>T]
Protein Change:
Mutation Type:	Substitution
Mutation Effect:	Splice site
Location:	intron 15
Transcript:	NM_000251.2

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Spain	NA	Catalonia	4 Unrelated families	NA	Menéndez M et al., 2010Menéndez M, Castellví-Bel S, Pineda M, de Cid R, Muñoz J, González S, Teulé A, Balaguer F, Ramón y Cajal T, Reñé JM, Blanco I, Castells A, Capellà G, . Founder effect of a pathogenic MSH2 mutation identified in Spanish families with Lynch syndrome.. Clin. Genet.. 2010; 78(2):186-90

MLH1 || c.2252_2253delAA

Gene/Locus:	MLH1
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

MSH2 || 32-KB DEL, EX1-6

Gene/Locus:	MSH2
Dna Change:	32-KB DEL, EX1-6
Protein Change:
Mutation Type:	Deletion
Mutation Effect:
Location:	exon 1 to 6
Transcript:	NG_007110.2

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Italy	NA	Northeastern	2 families	NA	Stella A et al., 2007Stella A, Surdo NC, Lastella P, Barana D, Oliani C, Tibiletti MG, Viel A, Natale C, Piepoli A, Marra G, Guanti G, . Germline novel MSH2 deletions and a founder MSH2 deletion associated with anticipation effects in HNPCC.. Clin. Genet.. 2007; 71(2):130-9

References

Borelli I, Barberis MA, Spina F, Casalis Cavalchini GC, Vivanet C, Balestrino L, Micheletti M, Allavena A, Sala P, Carcassi C, Pasini B, A unique MSH2 exon 8 deletion accounts for a major portion of all mismatch repair gene mutations in Lynch syndrome families of Sardinian origin.Eur. J. Hum. Genet.. 2013; 21(2):154-61

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

Martín-López JV, Barrios Y, Medina-Arana V, Andújar M, Lee S, Gu L, Li GM, Rüschoff J, Salido E, Fishel R, The hMSH2(M688R) Lynch syndrome mutation may function as a dominant negative.Carcinogenesis. 2012; 33(9):1647-54

Medina-Arana V, Barrios Y, Fernández-Peralta A, Herrera M, Chinea N, Lorenzo N, Jiménez A, Martín-López JV, González-Hermoso F, Salido E, González-Aguilera JJ, New founding mutation in MSH2 associated with hereditary nonpolyposis colorectal cancer syndrome on the Island of Tenerife.Cancer Lett.. 2006; 244(2):268-73

Menéndez M, Castellví-Bel S, Pineda M, de Cid R, Muñoz J, González S, Teulé A, Balaguer F, Ramón y Cajal T, Reñé JM, Blanco I, Castells A, Capellà G, Founder effect of a pathogenic MSH2 mutation identified in Spanish families with Lynch syndrome.Clin. Genet.. 2010; 78(2):186-90

Stella A, Surdo NC, Lastella P, Barana D, Oliani C, Tibiletti MG, Viel A, Natale C, Piepoli A, Marra G, Guanti G, Germline novel MSH2 deletions and a founder MSH2 deletion associated with anticipation effects in HNPCC.Clin. Genet.. 2007; 71(2):130-9

Tunca B, Pedroni M, Cecener G, Egeli U, Borsi E, Zorluoglu A, Di Gregorio C, Yilmazlar T, Yerci O, de Leon MP, Analysis of mismatch repair gene mutations in Turkish HNPCC patients.Fam. Cancer. 2010; 9(3):365-76

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Phenotype: Colorectal cancer, hereditary nonpolyposis, type 1 (Lynch syndrome)

References