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Last update

21/6/2017

Gene: cyclin-dependent kinase inhibitor 2A; CDKN2A

Gene Symbol: CDKN2A
OMIM: 600160
Chromosome location: 9p21.3

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

Melanoma, cutaneous malignant, 2 || c.176T>G

Phenotype:	Melanoma, cutaneous malignant, 2
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

Melanoma, cutaneous malignant, 2 || c.301G>T

Phenotype:	Melanoma, cutaneous malignant, 2
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	NA	NA	NA	Ghiorzo P et al., 2012Ghiorzo P, Fornarini G, Sciallero S, Battistuzzi L, Belli F, Bernard L, Bonelli L, Borgonovo G, Bruno W, De Cian F, Decensi A, Filauro M, Faravelli F, Gozza A, Gargiulo S, Mariette F, Nasti S, Pastorino L, Queirolo P, Savarino V, Varesco L, Scarrà GB, , . CDKN2A is the main susceptibility gene in Italian pancreatic cancer families.. J. Med. Genet.. 2012; 49(3):164-70
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
Italy	NA	North-western (Ligurian)	detected in 4% of SPC cases	NA	Ghiorzo P et al., 2004Ghiorzo P, Pastorino L, Bonelli L, Cusano R, Nicora A, Zupo S, Queirolo P, Sertoli M, Pugliese V, Bianchi-Scarrà G, . INK4/ARF germline alterations in pancreatic cancer patients.. Ann. Oncol.. 2004; 15(1):70-8

Pancreatic cancer/melanoma syndrome || c.79G>T

Phenotype:	Pancreatic cancer/melanoma syndrome
Dna Change:	c.79G>T
Protein Change:	p.Glu27X
Mutation Type:	Substitution
Mutation Effect:	Nonsense
Location:	exon 1
Transcript:	NM_000077.4

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Italy	NA	NA	NA	NA	Ghiorzo P et al., 2012Ghiorzo P, Fornarini G, Sciallero S, Battistuzzi L, Belli F, Bernard L, Bonelli L, Borgonovo G, Bruno W, De Cian F, Decensi A, Filauro M, Faravelli F, Gozza A, Gargiulo S, Mariette F, Nasti S, Pastorino L, Queirolo P, Savarino V, Varesco L, Scarrà GB, , . CDKN2A is the main susceptibility gene in Italian pancreatic cancer families.. J. Med. Genet.. 2012; 49(3):164-70
Italy	NA	Liguria (north-western)	4 families	400 years ago (20 generations)	Ghiorzo P et al., 2006Ghiorzo P, Gargiulo S, Pastorino L, Nasti S, Cusano R, Bruno W, Gliori S, Sertoli MR, Burroni A, Savarino V, Gensini F, Sestini R, Queirolo P, Goldstein AM, Scarrà GB, . Impact of E27X, a novel CDKN2A germ line mutation, on p16 and p14ARF expression in Italian melanoma families displaying pancreatic cancer and neuroblastoma.. Hum. Mol. Genet.. 2006; 15(18):2682-9

Melanoma, cutaneous malignant, 2 || c.67G>A

Phenotype:	Melanoma, cutaneous malignant, 2
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

Melanoma, cutaneous malignant, 2 || [c.339G>C;c.340C>T]

Phenotype:	Melanoma, cutaneous malignant, 2
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

Melanoma, cutaneous malignant, 2 || c.167G>T

Phenotype:	Melanoma, cutaneous malignant, 2
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

Ghiorzo P, Fornarini G, Sciallero S, Battistuzzi L, Belli F, Bernard L, Bonelli L, Borgonovo G, Bruno W, De Cian F, Decensi A, Filauro M, Faravelli F, Gozza A, Gargiulo S, Mariette F, Nasti S, Pastorino L, Queirolo P, Savarino V, Varesco L, Scarrà GB, , CDKN2A is the main susceptibility gene in Italian pancreatic cancer families.J. Med. Genet.. 2012; 49(3):164-70

Ghiorzo P, Gargiulo S, Pastorino L, Nasti S, Cusano R, Bruno W, Gliori S, Sertoli MR, Burroni A, Savarino V, Gensini F, Sestini R, Queirolo P, Goldstein AM, Scarrà GB, Impact of E27X, a novel CDKN2A germ line mutation, on p16 and p14ARF expression in Italian melanoma families displaying pancreatic cancer and neuroblastoma.Hum. Mol. Genet.. 2006; 15(18):2682-9

Ghiorzo P, Pastorino L, Bonelli L, Cusano R, Nicora A, Zupo S, Queirolo P, Sertoli M, Pugliese V, Bianchi-Scarrà G, INK4/ARF germline alterations in pancreatic cancer patients.Ann. Oncol.. 2004; 15(1):70-8

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)

Gene: cyclin-dependent kinase inhibitor 2A; CDKN2A

References