OMIM: 606719Inheritance: Autosomal dominant
Classification: Neoplasms
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | CDKN2A |
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| Dna Change: | c.301G>T |
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| Protein Change: | p.Gly101Trp |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon 2 |
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| Transcript: | NM_000077.4 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| 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) | 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 |
| Gene/Locus: | CDKN2A |
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| Dna Change: | c.79G>T |
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| Protein Change: | p.Glu27X |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Nonsense |
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| Location: | exon 1 |
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| Transcript: | NM_000077.4 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| 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 |
References
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