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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: Melanoma, cutaneous malignant, 2

OMIM: 155601
Inheritance: Autosomal recessive
Classification: Neoplasms

Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials

CDKN2A || c.176T>G

Gene/Locus:	CDKN2A
Dna Change:	c.176T>G
Protein Change:	p.Val59Gly
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 2
Transcript:	NM_000077.4

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
France	Jews	NA	1 family	NA	Yakobson E et al., 2003Yakobson E, Eisenberg S, Isacson R, Halle D, Levy-Lahad E, Catane R, Safro M, Sobolev V, Huot T, Peters G, Ruiz A, Malvehy J, Puig S, Chompret A, Avril MF, Shafir R, Peretz H, Bressac-de Paillerets B, . A single Mediterranean, possibly Jewish, origin for the Val59Gly CDKN2A mutation in four melanoma-prone families.. Eur. J. Hum. Genet.. 2003; 11(4):288-96
Morocco	Jews	NA	1 family	NA	Yakobson E et al., 2003Yakobson E, Eisenberg S, Isacson R, Halle D, Levy-Lahad E, Catane R, Safro M, Sobolev V, Huot T, Peters G, Ruiz A, Malvehy J, Puig S, Chompret A, Avril MF, Shafir R, Peretz H, Bressac-de Paillerets B, . A single Mediterranean, possibly Jewish, origin for the Val59Gly CDKN2A mutation in four melanoma-prone families.. Eur. J. Hum. Genet.. 2003; 11(4):288-96
Spain	Jews	NA	1 family	NA	Yakobson E et al., 2003Yakobson E, Eisenberg S, Isacson R, Halle D, Levy-Lahad E, Catane R, Safro M, Sobolev V, Huot T, Peters G, Ruiz A, Malvehy J, Puig S, Chompret A, Avril MF, Shafir R, Peretz H, Bressac-de Paillerets B, . A single Mediterranean, possibly Jewish, origin for the Val59Gly CDKN2A mutation in four melanoma-prone families.. Eur. J. Hum. Genet.. 2003; 11(4):288-96
Tunisia	Jews	NA	1 family	NA	Yakobson E et al., 2003Yakobson E, Eisenberg S, Isacson R, Halle D, Levy-Lahad E, Catane R, Safro M, Sobolev V, Huot T, Peters G, Ruiz A, Malvehy J, Puig S, Chompret A, Avril MF, Shafir R, Peretz H, Bressac-de Paillerets B, . A single Mediterranean, possibly Jewish, origin for the Val59Gly CDKN2A mutation in four melanoma-prone families.. Eur. J. Hum. Genet.. 2003; 11(4):288-96

CDKN2A || c.301G>T

Gene/Locus:	CDKN2A
Dna Change:	c.301G>T
Protein Change:	p.Gly101Trp
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 2
Transcript:	NM_000077.4

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
France	NA	NA	6 families	97 generations ago	Ciotti P et al., 2000Ciotti P, Struewing JP, Mantelli M, Chompret A, Avril MF, Santi PL, Tucker MA, Bianchi-Scarrà G, Bressac-de Paillerets B, Goldstein AM, . A single genetic origin for the G101W CDKN2A mutation in 20 melanoma-prone families.. Am. J. Hum. Genet.. 2000; 67(2):311-9
Italy	NA	NA	10 families	97 generations ago	Ciotti P et al., 2000Ciotti P, Struewing JP, Mantelli M, Chompret A, Avril MF, Santi PL, Tucker MA, Bianchi-Scarrà G, Bressac-de Paillerets B, Goldstein AM, . A single genetic origin for the G101W CDKN2A mutation in 20 melanoma-prone families.. Am. J. Hum. Genet.. 2000; 67(2):311-9
Italy	NA	North-western (Ligurian)	9 families/34 families	NA	Mantelli M et al., 2004Mantelli M, Pastorino L, Ghiorzo P, Barile M, Bruno W, Gargiulo S, Sormani MP, Gliori S, Vecchio S, Ciotti P, Sertoli MR, Queirolo P, Goldstein AM, Bianchi-Scarrà G, , . Early onset may predict G101W CDKN2A founder mutation carrier status in Ligurian melanoma patients.. Melanoma Res.. 2004; 14(6):443-8

CDKN2A || c.67G>A

Gene/Locus:	CDKN2A
Dna Change:	c.67G>A
Protein Change:	p.Gly23Ser
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 1
Transcript:	NM_000077.4

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Italy	NA	Central Italy (Tuscany)	3 families/23 families	NA	Gensini F et al., 2007Gensini F, Sestini R, Piazzini M, Vignoli M, Chiarugi A, Brandani P, Ghiorzo P, Salvini C, Borgognoni L, Palli D, Bianchi-Scarrà G, Carli P, Genuardi M, . The p.G23S CDKN2A founder mutation in high-risk melanoma families from Central Italy.. Melanoma Res.. 2007; 17(6):387-92

CDKN2A || [c.339G>C;c.340C>T]

Gene/Locus:	CDKN2A
Dna Change:	[c.339G>C;c.340C>T]
Protein Change:	[p.Leu113Leu;p.Pro114Ser]
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 2
Transcript:	NM_000077.4

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
France	NA	NA	3 families/ 7 families	NA	Kannengiesser C et al., 2007Kannengiesser C, Dalle S, Leccia MT, Avril MF, Bonadona V, Chompret A, Lasset C, Leroux D, Thomas L, Lesueur F, Lenoir G, Sarasin A, Bressac-de Paillerets B, . New founder germline mutations of CDKN2A in melanoma-prone families and multiple primary melanoma development in a patient receiving levodopa treatment.. Genes Chromosomes Cancer. 2007; 46(8):751-60

CDKN2A || c.167G>T

Gene/Locus:	CDKN2A
Dna Change:	c.167G>T
Protein Change:	p.Ser56Ile
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 2
Transcript:	NM_000077.4

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
France	NA	NA	3 families/ 7 families	NA	Kannengiesser C et al., 2007Kannengiesser C, Dalle S, Leccia MT, Avril MF, Bonadona V, Chompret A, Lasset C, Leroux D, Thomas L, Lesueur F, Lenoir G, Sarasin A, Bressac-de Paillerets B, . New founder germline mutations of CDKN2A in melanoma-prone families and multiple primary melanoma development in a patient receiving levodopa treatment.. Genes Chromosomes Cancer. 2007; 46(8):751-60

References

Ciotti P, Struewing JP, Mantelli M, Chompret A, Avril MF, Santi PL, Tucker MA, Bianchi-Scarrà G, Bressac-de Paillerets B, Goldstein AM, A single genetic origin for the G101W CDKN2A mutation in 20 melanoma-prone families.Am. J. Hum. Genet.. 2000; 67(2):311-9

Gensini F, Sestini R, Piazzini M, Vignoli M, Chiarugi A, Brandani P, Ghiorzo P, Salvini C, Borgognoni L, Palli D, Bianchi-Scarrà G, Carli P, Genuardi M, The p.G23S CDKN2A founder mutation in high-risk melanoma families from Central Italy.Melanoma Res.. 2007; 17(6):387-92

Kannengiesser C, Dalle S, Leccia MT, Avril MF, Bonadona V, Chompret A, Lasset C, Leroux D, Thomas L, Lesueur F, Lenoir G, Sarasin A, Bressac-de Paillerets B, New founder germline mutations of CDKN2A in melanoma-prone families and multiple primary melanoma development in a patient receiving levodopa treatment.Genes Chromosomes Cancer. 2007; 46(8):751-60

Mantelli M, Pastorino L, Ghiorzo P, Barile M, Bruno W, Gargiulo S, Sormani MP, Gliori S, Vecchio S, Ciotti P, Sertoli MR, Queirolo P, Goldstein AM, Bianchi-Scarrà G, , Early onset may predict G101W CDKN2A founder mutation carrier status in Ligurian melanoma patients.Melanoma Res.. 2004; 14(6):443-8

Yakobson E, Eisenberg S, Isacson R, Halle D, Levy-Lahad E, Catane R, Safro M, Sobolev V, Huot T, Peters G, Ruiz A, Malvehy J, Puig S, Chompret A, Avril MF, Shafir R, Peretz H, Bressac-de Paillerets B, A single Mediterranean, possibly Jewish, origin for the Val59Gly CDKN2A mutation in four melanoma-prone families.Eur. J. Hum. Genet.. 2003; 11(4):288-96

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Phenotype: Melanoma, cutaneous malignant, 2

References