{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T10:29:09Z","timestamp":1790850549723,"version":"4.1.0"},"reference-count":47,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2008,7,1]],"date-time":"2008-07-01T00:00:00Z","timestamp":1214870400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Br J Cancer"],"published-print":{"date-parts":[[2008,7]]},"DOI":"10.1038\/sj.bjc.6604470","type":"journal-article","created":{"date-parts":[[2008,7,9]],"date-time":"2008-07-09T03:48:50Z","timestamp":1215575330000},"page":"364-370","source":"Crossref","is-referenced-by-count":28,"title":["The contribution of large genomic deletions at the CDKN2A locus to the burden of familial melanoma"],"prefix":"10.1038","volume":"99","author":[{"name":"French Familial Melanoma Study Group","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F","family":"Lesueur","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"de Lichy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Barrois","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G","family":"Durand","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Bombled","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M-F","family":"Avril","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Chompret","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F","family":"Boitier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G M","family":"Lenoir","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B","family":"Bressac-de Paillerets","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2008,7,8]]},"reference":[{"key":"BF6604470_CR1","doi-asserted-by":"publisher","first-page":"17","DOI":"10.1016\/S0962-8924(99)01673-6","volume":"10","author":"J Adams","year":"2000","unstructured":"Adams J, Kelso R, Cooley L (2000) The kelch repeat superfamily of proteins: propellers of cell function. Trends Cell Biol 10: 17\u201324","journal-title":"Trends Cell Biol"},{"key":"BF6604470_CR2","first-page":"2298","volume":"58","author":"M Bahuau","year":"1998","unstructured":"Bahuau M, Vidaud D, Jenkins RB, Bieche I, Kimmel DW, Assouline B, Smith JS, Alderete B, Cayuela JM, Harpey JP, Caille B, Vidaud M (1998) Germ-line deletion involving the INK4 locus in familial proneness to melanoma and nervous system tumors. Cancer Res 58: 2298\u20132303","journal-title":"Cancer Res"},{"key":"BF6604470_CR3","doi-asserted-by":"publisher","first-page":"1260","DOI":"10.1093\/jnci\/92.15.1260","volume":"92","author":"A Borg","year":"2000","unstructured":"Borg A, Sandberg T, Nilsson K, Johannsson O, Klinker M, Masback A, Westerdahl J, Olsson H, Ingvar C (2000) High frequency of multiple melanomas and breast and pancreas carcinomas in CDKN2A mutation-positive melanoma families. J Natl Cancer Inst 92: 1260\u20131266","journal-title":"J Natl Cancer Inst"},{"key":"BF6604470_CR4","doi-asserted-by":"publisher","first-page":"218","DOI":"10.1002\/humu.10108","volume":"20","author":"F Casilli","year":"2002","unstructured":"Casilli F, Di Rocco ZC, Gad S, Tournier I, Stoppa-Lyonnet D, Frebourg T, Tosi M (2002) Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments. Hum Mutat 20: 218\u2013226","journal-title":"Hum Mutat"},{"key":"BF6604470_CR5","doi-asserted-by":"publisher","first-page":"785","DOI":"10.1093\/jnci\/djh136","volume":"96","author":"V Chaudru","year":"2004","unstructured":"Chaudru V, Chompret A, Bressac-de Paillerets B, Spatz A, Avril MF, Demenais F (2004) Influence of genes, nevi, and sun sensitivity on melanoma risk in a family sample unselected by family history and in melanoma-prone families. J Natl Cancer Inst 96: 785\u2013795","journal-title":"J Natl Cancer Inst"},{"key":"BF6604470_CR6","doi-asserted-by":"publisher","first-page":"311","DOI":"10.1086\/303001","volume":"67","author":"P Ciotti","year":"2000","unstructured":"Ciotti P, Struewing JP, Mantelli M, Chompret A, Avril MF, Santi PL, Tucker MA, Bianchi-Scarr\u00e0 G, Bressac-de Paillerets B, Goldstein AM (2000) A single genetic origin for the G101W CDKN2A mutation in 20 melanoma-prone families. Am J Hum Genet 67: 311\u2013319","journal-title":"Am J Hum Genet"},{"key":"BF6604470_CR7","doi-asserted-by":"publisher","first-page":"558","DOI":"10.1002\/ijc.20163","volume":"110","author":"T Debniak","year":"2004","unstructured":"Debniak T, Gorski B, Scott RJ, Cybulski C, Medrek K, Zowocka E, Kurzawski G, Debniak B, Kadny J, Bielecka-Grzela S, Malekszka R, Lubinski J (2004) Germline mutation and large deletion analysis of the CDKN2A and ARF genes in families with multiple melanoma or an aggregation of malignant melanoma and breast cancer. Int J Cancer 110: 558\u2013562","journal-title":"Int J Cancer"},{"key":"BF6604470_CR8","doi-asserted-by":"publisher","first-page":"1465","DOI":"10.1038\/sj.jid.5700718","volume":"127","author":"A Erlandson","year":"2007","unstructured":"Erlandson A, Appelqvist F, Wennberg AM, Holm J, Enerback C (2007) Novel CDKN2A mutations detected in Western Swedish families with hereditary malignant melanoma. J Invest Dermatol 127: 1465\u20131467","journal-title":"J Invest Dermatol"},{"key":"BF6604470_CR9","first-page":"129","volume":"60","author":"M Esteller","year":"2000","unstructured":"Esteller M, Tortola S, Toyota M, Capella G, Peinado MA, Baylin SB, Herman JG (2000) Hypermethylation-associated inactivation of p14(ARF) is independent of p16(INK4a) methylation and p53 mutational status. Cancer Res 60: 129\u2013133","journal-title":"Cancer Res"},{"key":"BF6604470_CR10","doi-asserted-by":"publisher","first-page":"8541","DOI":"10.1073\/pnas.93.16.8541","volume":"93","author":"MG Fitzgerald","year":"1996","unstructured":"Fitzgerald MG, Harkin DP, Silva-Arrieta S, MacDonald DJ, Lucchina LC, Unsal H, O\u2032Neill E, Koh J, Finkelstein DM, Isselbacher KJ, Sober AJ, Haber DA (1996) Prevalence of germline mutations in p16, p19ARF, and CDK4 in familial melanoma: analysis of a clinic-based population. Proc Natl Acad Sci USA 93: 8541\u20138545","journal-title":"Proc Natl Acad Sci USA"},{"key":"BF6604470_CR11","doi-asserted-by":"publisher","first-page":"301","DOI":"10.1086\/377140","volume":"73","author":"E Gillanders","year":"2003","unstructured":"Gillanders E, Juo SH, Holland EA, Jones M, Nancarrow D, Freas-Lutz D, Sood R, Park N, Faruque M, Markey C, Kefford RF, Palmer J, Bergman W, Bishop DT, Tucker MA, Bressac-de Paillerets B, Hansson J, Stark M, Gruis N, Bishop JN, Goldstein AM, Bailey-Wilson JE, Mann GJ, Hayward N, Trent J, Lund Melanoma Study Group; Melanoma Genetics Consortium (2003) Localization of a novel melanoma susceptibility locus to 1p22. Am J Hum Genet 73: 301\u2013313","journal-title":"Am J Hum Genet"},{"key":"BF6604470_CR12","doi-asserted-by":"publisher","first-page":"1600","DOI":"10.1093\/jnci\/86.21.1600","volume":"86","author":"DE Goldgar","year":"1994","unstructured":"Goldgar DE, Easton DF, Cannon-Albright LA, Skolnick MH (1994) Systematic population-based assessment of cancer risk in first-degree relatives of cancer probands. J Nat Cancer Inst 86: 1600\u20131608","journal-title":"J Nat Cancer Inst"},{"key":"BF6604470_CR13","doi-asserted-by":"publisher","first-page":"9818","DOI":"10.1158\/0008-5472.CAN-06-0494","volume":"66","author":"AM Goldstein","year":"2006","unstructured":"Goldstein AM, Chan M, Harland M, Gillanders EM, Hayward NK, Avril MF, Azizi E, Bianchi-Scarra G, Bishop DT, Bressac-de Paillerets B, Bruno W, Calista D, Cannon Albright LA, Demenais F, Elder DE, Ghiorzo P, Gruis NA, Hansson J, Hogg D, Holland EA, Kanetsky PA, Kefford RF, Landi MT, Lang J, Leachman SA, Mackie RM, Magnusson V, Mann GJ, Niendorf K, Newton Bishop J, Palmer JM, Puig S, Puig-Butille JA, de Snoo FA, Stark M, Tsao H, Tucker MA, Whitaker L, Yakobson E, Melanoma Genetics Consortium (GenoMEL) (2006) High-risk melanoma susceptibility genes and pancreatic cancer, neural system tumors, and uveal melanoma across GenoMEL. Cancer Res 66: 9818\u20139828","journal-title":"Cancer Res"},{"key":"BF6604470_CR14","doi-asserted-by":"publisher","first-page":"825","DOI":"10.1002\/ijc.22712","volume":"121","author":"AM Goldstein","year":"2007","unstructured":"Goldstein AM, Chaudru V, Ghiorzo P, Badenas C, Malvehy J, Pastorino L, Laud K, Hulley B, Avril MF, Puig-Butille JA, Miniere A, Marti R, Chompret A, Cuellar F, Kolm I, Mila M, Tucker MA, Demenais F, Bianchi-Scarra G, Puig S, de-Paillerets BB (2007) Cutaneous phenotype and MC1R variants as modifying factors for the development of melanoma in CDKN2A G101W mutation carriers from 4 countries. Int J Cancer 121: 825\u2013831","journal-title":"Int J Cancer"},{"key":"BF6604470_CR15","first-page":"537","volume":"52","author":"AM Goldstein","year":"1993","unstructured":"Goldstein AM, Dracopoli NC, Ho EC, Fraser MC, Kearns KS, Bale SJ, McBride OW, Clark Jr WH, Tucker MA (1993) Further evidence for a locus for cutaneous malignant melanoma-dysplastic nevus (CMM\/DN) on chromosome 1p, and evidence for genetic heterogeneity. Am J Hum Genet 52: 537\u2013550","journal-title":"Am J Hum Genet"},{"key":"BF6604470_CR16","doi-asserted-by":"publisher","first-page":"970","DOI":"10.1056\/NEJM199510123331504","volume":"333","author":"AM Goldstein","year":"1995","unstructured":"Goldstein AM, Fraser MC, Struewing JP, Hussussian CJ, Ranade K, Zametkin DP, Fontaine LS, Organic SM, Dracopoli NC, Clark Jr WH, Tucker MA (1995) Increased risk of pancreatic cancer in melanoma-prone kindreds with p16INK4 mutations. N Engl J Med 333: 970\u2013974","journal-title":"N Engl J Med"},{"key":"BF6604470_CR17","first-page":"5336","volume":"57","author":"ML Gonzalgo","year":"1997","unstructured":"Gonzalgo ML, Bender CM, You EH, Glendening JM, Flores JF, Walker GJ, Hayward NK, Jones PA, Fountain JW (1997) Low frequency of p16\/CDKN2A methylation in sporadic melanoma: comparative approaches for methylation analysis of primary tumors. Cancer Res 57: 5336\u20135347","journal-title":"Cancer Res"},{"key":"BF6604470_CR18","doi-asserted-by":"publisher","first-page":"1154","DOI":"10.1001\/archderm.1995.01690220060011","volume":"131","author":"F Grange","year":"1995","unstructured":"Grange F, Chompret A, Guilloud-Bataille M, Guillaume JC, Margulis A, Prade M, Demenais F, Avril MF (1995) Comparison between familial and nonfamilial melanoma in France. Arch Dermatol 131: 1154\u20131159","journal-title":"Arch Dermatol"},{"key":"BF6604470_CR19","doi-asserted-by":"publisher","first-page":"2061","DOI":"10.1093\/hmg\/6.12.2061","volume":"6","author":"M Harland","year":"1997","unstructured":"Harland M, Meloni R, Gruis N, Pinney E, Brookes S, Spurr NK, Frischauf A-M, Bataille V, Peters G, Cuzick J, Selby P, Bishop DT, Bishop JN (1997) Germline mutations of the CDKN2 gene in UK melanoma families. Hum Mol Genet 6: 2061\u20132067","journal-title":"Hum Mol Genet"},{"key":"BF6604470_CR20","doi-asserted-by":"publisher","first-page":"211","DOI":"10.1016\/S0304-3835(02)00027-7","volume":"180","author":"J Hashemi","year":"2002","unstructured":"Hashemi J, Lindstrom MS, Asker C, Platz A, Hansson J, Wiman KG (2002) A melanoma-predisposing germline CDKN2A mutation with functional significance for both p16 and p14ARF. Cancer Lett 180: 211\u2013221","journal-title":"Cancer Lett"},{"key":"BF6604470_CR21","first-page":"6864","volume":"60","author":"J Hashemi","year":"2000","unstructured":"Hashemi J, Platz A, Ueno T, Stierner U, Ringborg U, Hansson J (2000) CDKN2A germ-line mutations in individuals with multiple cutaneous melanomas. Cancer Res 60: 6864\u20136867","journal-title":"Cancer Res"},{"key":"BF6604470_CR22","doi-asserted-by":"publisher","first-page":"3053","DOI":"10.1038\/sj.onc.1206445","volume":"22","author":"NK Hayward","year":"2003","unstructured":"Hayward NK (2003) Genetics of melanoma predisposition. Oncogene 22: 3053\u20133062","journal-title":"Oncogene"},{"key":"BF6604470_CR23","doi-asserted-by":"publisher","first-page":"217","DOI":"10.1046\/j.1523-1747.2003.12041.x","volume":"120","author":"K Hemminki","year":"2003","unstructured":"Hemminki K, Zhang H, Czene K (2003) Familial and attributable risks in cutaneous melanoma: effects of proband and age. J Invest Dermatol 120: 217\u2013223","journal-title":"J Invest Dermatol"},{"key":"BF6604470_CR24","doi-asserted-by":"publisher","first-page":"697","DOI":"10.1056\/NEJMoa064522","volume":"356","author":"MP Hitchins","year":"2007","unstructured":"Hitchins MP, Wong JJ, Suthers G, Suter CM, Martin DI, Hawkins NJ, Ward RL (2007) Inheritance of a cancer-associated MLH1 germ-line epimutation. N Engl J Med 356: 697\u2013705","journal-title":"N Engl J Med"},{"key":"BF6604470_CR25","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1038\/ng0994-15","volume":"8","author":"CJ Hussussian","year":"1994","unstructured":"Hussussian CJ, Struewing JP, Goldstein AM, Higgins PAT, Ally DS, Steahan MD, Clark Jr WH, Tucker MA, Dracopoli NC (1994) Germline p16 mutations in familial melanoma. Nat Genet 8: 15\u201321","journal-title":"Nat Genet"},{"key":"BF6604470_CR26","doi-asserted-by":"publisher","first-page":"23","DOI":"10.1038\/ng0994-22","volume":"8","author":"A Kamb","year":"1994","unstructured":"Kamb A, Shattuck-Eidens D, Eeles R, Liu Q, Gruis NA, Ding W, Hussey C, Tran T, Miki Y, Weaver-Feldhaus J, McClure M, Aitken JF, Anderson DE, Bergman W, Frants R, Goldgar DE, Green A, MacLennan R, Martin NG, Meyer LJ, Youl P, Zone JJ, Skolnick MH, Cannon-Albright LA (1994) Analysis of the p16 gene (CDKN2) as a candidate for the chromosome 9p melanoma susceptibility locus. Nat Genet 8: 23\u201326","journal-title":"Nat Genet"},{"key":"BF6604470_CR27","doi-asserted-by":"crossref","unstructured":"Kannengiesser C, Brookes S, Gutierrez del Arroyo A, Pham D, Bombled J, Barrois M, Mauffret O, Avril MF, Chompret A, Lenoir GM, Sarasin A, French Hereditary Melanoma Study Group, Peters G, Bressac-de Paillerets B (2008) Functional, structural and genetic evaluation of 20 CDKN2A germ line mutations identified in melanoma-prone families or patients. Hum Mutat, (in press)","DOI":"10.1002\/humu.20845"},{"key":"BF6604470_CR28","doi-asserted-by":"publisher","first-page":"751","DOI":"10.1002\/gcc.20461","volume":"46","author":"C Kannengiesser","year":"2007","unstructured":"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 (2007) New founder germline mutations of CDKN2A in melanoma-prone families and multiple primary melanoma development in a patient receiving levodopa treatment. Genes Chromosomes Cancer 46: 751\u2013760","journal-title":"Genes Chromosomes Cancer"},{"key":"BF6604470_CR29","doi-asserted-by":"publisher","first-page":"1155","DOI":"10.1002\/gcc.20379","volume":"45","author":"S Knappskog","year":"2006","unstructured":"Knappskog S, Geisler J, Arnesen T, Lillehaug JR, Lonning PE (2006) A novel type of deletion in the CDKN2A gene identified in a melanoma-prone family. Genes Chromosomes Cancer 45: 1155\u20131163","journal-title":"Genes Chromosomes Cancer"},{"key":"BF6604470_CR30","doi-asserted-by":"publisher","first-page":"39","DOI":"10.1136\/jmg.2005.033498","volume":"43","author":"K Laud","year":"2006","unstructured":"Laud K, Marian C, Avril MF, Barrois M, Chompret A, Goldstein AM, Tucker MA, Clark PA, Peters G, Chaudru V, Demenais F, Spatz A, Smith MW, Lenoir GM, Bressac-de Paillerets B, French Hereditary Melanoma Study Group (2006) Comprehensive analysis of CDKN2A (p16INK4A\/p14ARF) and CDKN2B genes in 53 melanoma index cases considered to be at heightened risk of melanoma. J Med Genet 43: 39\u201347","journal-title":"J Med Genet"},{"key":"BF6604470_CR31","doi-asserted-by":"publisher","first-page":"5890","DOI":"10.1038\/sj.onc.1207776","volume":"23","author":"XQ Liang","year":"2004","unstructured":"Liang XQ, Avraham HK, Jiang S, Avraham S (2004) Genetic alterations of the NRP\/B gene are associated with human brain tumors. Oncogene 23: 5890\u20135900","journal-title":"Oncogene"},{"key":"BF6604470_CR32","doi-asserted-by":"publisher","first-page":"686","DOI":"10.1038\/nm0795-686","volume":"1","author":"A Merlo","year":"1995","unstructured":"Merlo A, Herman JG, Mao L, Lee DJ, Gabrielson E, Burger PC, Baylin SB, Sidransky D (1995) 5\u2032 CpG island methylation is associated with transcriptional silencing of the tumour suppressor p16\/CDKN2\/MTS1 in human cancers. Nature Med 1: 686\u2013692","journal-title":"Nature Med"},{"key":"BF6604470_CR33","doi-asserted-by":"publisher","first-page":"292","DOI":"10.1002\/gcc.20238","volume":"44","author":"SH Mistry","year":"2005","unstructured":"Mistry SH, Taylor C, Randerson-Moor JA, Harland M, Turner F, Barrett JH, Whitaker L, Jenkins RB, Knowles MA, Bishop JA, Bishop DT (2005) Prevalence of 9p21 deletions in UK melanoma families. Genes Chromosomes Cancer 44: 292\u2013300","journal-title":"Genes Chromosomes Cancer"},{"key":"BF6604470_CR34","doi-asserted-by":"publisher","first-page":"10","DOI":"10.1002\/gcc.20202","volume":"44","author":"A Molven","year":"2005","unstructured":"Molven A, Grimstvedt MB, Steine SJ, Harland M, Avril MF, Hayward NK, Akslen LA (2005) A large Norwegian family with inherited malignant melanoma, multiple atypical nevi, and CDK4 mutation. Genes Chromosomes Cancer 44: 10\u201318","journal-title":"Genes Chromosomes Cancer"},{"key":"BF6604470_CR35","doi-asserted-by":"publisher","first-page":"3844","DOI":"10.1128\/MCB.16.7.3844","volume":"16","author":"D Parry","year":"1996","unstructured":"Parry D, Peters G (1996) Temperature-sensitive mutants of p16CDKN2 associated with familial melanoma. Mol Cell Biol 16: 3844\u20133852","journal-title":"Mol Cell Biol"},{"key":"BF6604470_CR36","doi-asserted-by":"publisher","first-page":"3963","DOI":"10.1158\/0008-5472.CAN-06-2004","volume":"67","author":"E Pasmant","year":"2007","unstructured":"Pasmant E, Laurendeau I, Heron D, Vidaud M, Vidaud D, Bieche I (2007) Characterization of a germ-line deletion, including the entire INK4\/ARF locus, in a melanoma-neural system tumor family: identification of ANRIL, an antisense noncoding RNA whose expression coclusters with ARF. Cancer Res 67: 3963\u20133969","journal-title":"Cancer Res"},{"key":"BF6604470_CR37","doi-asserted-by":"publisher","first-page":"398","DOI":"10.1002\/gcc.1159","volume":"31","author":"F Petronzelli","year":"2001","unstructured":"Petronzelli F, Sollima D, Coppola G, Martini-Neri ME, Neri G, Genuardi M (2001) CDKN2A germline splicing mutation affecting both p16(ink4) and p14(arf) RNA processing in a melanoma\/neurofibroma kindred. Genes Chromosomes Cancer 31: 398\u2013401","journal-title":"Genes Chromosomes Cancer"},{"key":"BF6604470_CR38","doi-asserted-by":"publisher","first-page":"697","DOI":"10.1093\/jnci\/89.10.697","volume":"89","author":"A Platz","year":"1997","unstructured":"Platz A, Hansson J, Mansson-Brahme E, Lagerlof B, Linder S, Lundqvist E, Sevigny P, Inganas M, Ringborg U (1997) Screening of germline mutations in the CDKN2A and CDKN2B genes in Swedish families with hereditary cutaneous melanoma. J Natl Cancer Inst 89: 697\u2013702","journal-title":"J Natl Cancer Inst"},{"key":"BF6604470_CR39","doi-asserted-by":"publisher","first-page":"55","DOI":"10.1093\/hmg\/10.1.55","volume":"10","author":"JA Randerson-Moor","year":"2001","unstructured":"Randerson-Moor JA, Harland M, Williams S, Cuthbert-Heavens D, Sheridan E, Aveyard J, Sibley K, Whitaker L, Knowles M, Newton BJ, Bishop DT (2001) A germline deletion of p14(ARF) but not CDKN2A in a melanoma-neural system tumour syndrome family. Hum Mol Genet 10: 55\u201362","journal-title":"Hum Mol Genet"},{"key":"BF6604470_CR40","doi-asserted-by":"publisher","first-page":"312","DOI":"10.1002\/(SICI)1097-0215(19980504)76:3<312::AID-IJC4>3.0.CO;2-Y","volume":"76","author":"A Ruiz","year":"1998","unstructured":"Ruiz A, Puig S, Lynch M, Castel T, Estivill X (1998) Retention of the CDKN2A locus and low frequency of point mutations in primary and metastatic cutaneous malignant melanoma. Int J Cancer 76: 312\u2013316","journal-title":"Int J Cancer"},{"key":"BF6604470_CR41","doi-asserted-by":"publisher","first-page":"e57","DOI":"10.1093\/nar\/gnf056","volume":"30","author":"JP Schouten","year":"2002","unstructured":"Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G (2002) Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 30: e57","journal-title":"Nucleic Acids Res"},{"key":"BF6604470_CR42","doi-asserted-by":"publisher","first-page":"209","DOI":"10.1093\/hmg\/7.2.209","volume":"7","author":"N Soufir","year":"1998","unstructured":"Soufir N, Avril MF, Chompret A, Demenais F, Bombled J, Spatz A, Stoppa-Lyonnet D, the French Familial Melanoma Study Group, B\u00e9nard J, Bressac-de Paillerets B (1998) Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France. Hum Mol Genet 7: 209\u2013216","journal-title":"Hum Mol Genet"},{"key":"BF6604470_CR43","doi-asserted-by":"publisher","first-page":"497","DOI":"10.1038\/ng1342","volume":"36","author":"CM Suter","year":"2004","unstructured":"Suter CM, Martin DI, Ward RL (2004) Germline epimutation of MLH1 in individuals with multiple cancers. Nat Genet 36: 497\u2013501","journal-title":"Nat Genet"},{"key":"BF6604470_CR44","doi-asserted-by":"publisher","first-page":"13","DOI":"10.1046\/j.1365-2133.1998.02020.x","volume":"138","author":"SN Wagner","year":"1998","unstructured":"Wagner SN, Wagner C, Briedigkeit L, Goos M (1998) Homozygous deletion of the p16INK4a and the p15INK4b tumour suppressor genes in a subset of human sporadic cutaneous malignant melanoma. Br J Dermatol 138: 13\u201321","journal-title":"Br J Dermatol"},{"key":"BF6604470_CR45","doi-asserted-by":"publisher","first-page":"288","DOI":"10.1038\/sj.ejhg.5200961","volume":"11","author":"E Yakobson","year":"2003","unstructured":"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 (2003) A single Mediterranean, possibly Jewish, origin for the Val59Gly CDKN2A mutation in four melanoma-prone families. Eur J Hum Genet 11: 288\u2013296","journal-title":"Eur J Hum Genet"},{"key":"BF6604470_CR46","first-page":"1133","volume":"13","author":"K Yoshida","year":"2005","unstructured":"Yoshida K (2005) Identification and characterization of a novel kelch-like gene KLHL15 in silico. Oncol Rep 13: 1133\u20131137","journal-title":"Oncol Rep"},{"key":"BF6604470_CR47","doi-asserted-by":"publisher","first-page":"97","DOI":"10.1038\/ng0196-97","volume":"12","author":"L Zuo","year":"1996","unstructured":"Zuo L, Weger J, Yang Q, Goldstein AM, Tucker MA, Walker GJ, Hayward N, Dracopoli NC (1996) Germline mutations in the p16INK4a binding domain of CDK4 in familial melanoma. Nat Genet 12: 97\u201399","journal-title":"Nat Genet"}],"container-title":["British Journal of Cancer"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/6604470.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/6604470","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/6604470.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T12:34:03Z","timestamp":1684413243000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/6604470"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,7]]},"references-count":47,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2008,7]]}},"alternative-id":["BF6604470"],"URL":"https:\/\/doi.org\/10.1038\/sj.bjc.6604470","relation":{},"ISSN":["0007-0920","1532-1827"],"issn-type":[{"value":"0007-0920","type":"print"},{"value":"1532-1827","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,7]]}}}