{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T13:57:34Z","timestamp":1761487054404,"version":"3.43.0"},"reference-count":86,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2003,6,1]],"date-time":"2003-06-01T00:00:00Z","timestamp":1054425600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2003,6,1]],"date-time":"2003-06-01T00:00:00Z","timestamp":1054425600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Familial Cancer"],"published-print":{"date-parts":[[2003,6]]},"DOI":"10.1023\/a:1025758527675","type":"journal-article","created":{"date-parts":[[2003,10,24]],"date-time":"2003-10-24T14:33:40Z","timestamp":1067006020000},"page":"109-116","source":"Crossref","is-referenced-by-count":38,"title":["Familial melanoma: a complex disorder leading to controversy on DNA testing"],"prefix":"10.1007","volume":"2","author":[{"given":"Femke A.","family":"de Snoo","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wilma","family":"Bergman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nelleke A.","family":"Gruis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"issue":"6","key":"5120359_CR1","doi-asserted-by":"publisher","first-page":"840","DOI":"10.1093\/annonc\/mdf127","volume":"13","author":"A Micheli","year":"2002","unstructured":"Micheli A, Mugno E, Krogh V et al. Cancer prevalence in European registry areas. Ann Oncol 2002; 13(6): 840\u20135.","journal-title":"Ann Oncol"},{"issue":"9","key":"5120359_CR2","doi-asserted-by":"publisher","first-page":"678","DOI":"10.1093\/jnci\/93.9.678","volume":"93","author":"A Jemal","year":"2001","unstructured":"Jemal A, Devesa SS, Hartge P, Tucker MA. Recent trends in cutaneous melanoma incidence among whites in the United States. J Natl Cancer Inst 2001; 93(9): 678\u201383.","journal-title":"J Natl Cancer Inst"},{"issue":"3","key":"5120359_CR3","doi-asserted-by":"publisher","first-page":"457","DOI":"10.1002\/ijc.1203","volume":"92","author":"LD Marrett","year":"2001","unstructured":"Marrett LD, Nguyen HL, Armstrong BK. Trends in the incidence of cutaneous malignant melanoma in New South Wales, 1983\u20131996. Int J Cancer 2001; 92(3): 457\u201362.","journal-title":"Int J Cancer"},{"volume-title":"Cancer incidence and survival in the South of the Netherlands, 1955\u20131999","year":"2001","key":"5120359_CR4","unstructured":"Coebergh JW, Janssen-Heijnen MLG, Louwman WJ, Voogd AC, (eds). Cancer incidence and survival in the South of the Netherlands, 1955\u20131999. Eindhoven, The Netherlands: Comprehensive Cancer Centre South (IKZ), 2001."},{"issue":"1","key":"5120359_CR5","doi-asserted-by":"publisher","first-page":"69","DOI":"10.1023\/A:1008980919928","volume":"12","author":"DC Whiteman","year":"2001","unstructured":"Whiteman DC, Whiteman CA, Green AC. Childhood sun exposure as a risk factor for melanoma: a systematic review of epidemiologic studies. Cancer Causes Control 2001; 12(1): 69\u201382.","journal-title":"Cancer Causes Control"},{"issue":"4","key":"5120359_CR6","doi-asserted-by":"publisher","first-page":"533","DOI":"10.1002\/(SICI)1097-0215(19980812)77:4<533::AID-IJC10>3.0.CO;2-7","volume":"77","author":"P Autier","year":"1998","unstructured":"Autier P, Dore JF. Influence of sun exposures during childhood and during adulthood on melanoma risk. EPIMEL and EORTC Melanoma Cooperative Group. European Organisation for Research and Treatment of Cancer. Int J Cancer 1998; 77(4): 533\u20137.","journal-title":"Int J Cancer"},{"issue":"6535","key":"5120359_CR7","doi-asserted-by":"publisher","first-page":"1555","DOI":"10.1136\/bmj.292.6535.1555","volume":"292","author":"AJ Swerdlow","year":"1986","unstructured":"Swerdlow AJ, English J, MacKie RM et al. Benign melanocytic naevi as a risk factor for malignant melanoma. BMJ 1986; 292(6535): 1555\u20139.","journal-title":"BMJ"},{"issue":"3","key":"5120359_CR8","doi-asserted-by":"publisher","first-page":"273","DOI":"10.1016\/0091-7435(88)90003-5","volume":"17","author":"GC Roush","year":"1988","unstructured":"Roush GC, Nordlund JJ, Forget B et al. Independence of dysplastic nevi from total nevi in determining risk for nonfamilial melanoma. Prev Med 1988; 17(3): 273\u20139.","journal-title":"Prev Med"},{"issue":"2","key":"5120359_CR9","doi-asserted-by":"publisher","first-page":"387","DOI":"10.1002\/1097-0142(19900715)66:2<387::AID-CNCR2820660232>3.0.CO;2-J","volume":"66","author":"JJ Grob","year":"1990","unstructured":"Grob JJ, Gouvernet J, Aymar D et al. Count of benign melanocytic nevi as a major indicator of risk for nonfamilial nodular and superficial spreading melanoma. Cancer 1990; 66(2): 387\u201395.","journal-title":"Cancer"},{"issue":"7","key":"5120359_CR10","doi-asserted-by":"publisher","first-page":"995","DOI":"10.1001\/archderm.127.7.995","volume":"127","author":"AC Halpern","year":"1991","unstructured":"Halpern AC, Guerry D, Elder DE et al. Dysplastic nevi as risk markers of sporadic (nonfamilial) melanoma. A case-control study. Arch Dermatol 1991; 127(7): 995\u20139.","journal-title":"Arch Dermatol"},{"issue":"1","key":"5120359_CR11","doi-asserted-by":"publisher","first-page":"92","DOI":"10.1002\/ijc.10117","volume":"98","author":"P Youl","year":"2002","unstructured":"Youl P, Aitken J, Hayward N et al. Melanoma in adolescents: a case-control study of risk factors in Queensland, Australia. Int J Cancer 2002; 98(1): 92\u20138.","journal-title":"Australia. Int J Cancer"},{"issue":"12","key":"5120359_CR12","doi-asserted-by":"crossref","first-page":"1605","DOI":"10.1038\/bjc.1996.302","volume":"73","author":"V Bataille","year":"1996","unstructured":"Bataille V, Bishop JA, Sasieni P et al. Risk of cutaneous melanoma in relation to the numbers, types and sites of naevi: a case-control study. Br J Cancer 1996; 73(12): 1605\u201311.","journal-title":"Br J Cancer"},{"issue":"4","key":"5120359_CR13","first-page":"445","volume":"147","author":"LD Marrett","year":"1992","unstructured":"Marrett LD, King WD, Walter SD, From L. Use of host factors to identify people at high risk for cutaneous malignant melanoma. CMAJ 1992; 147(4): 445\u201353.","journal-title":"CMAJ"},{"issue":"4","key":"5120359_CR14","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1002\/ijc.2910620402","volume":"62","author":"JM Bliss","year":"1995","unstructured":"Bliss JM, Ford D, Swerdlow AJ et al. Risk of cutaneous melanoma associated with pigmentation characteristics and freckling: systematic overview of 10 case-control studies. The International Melanoma Analysis Group (IMAGE). Int J Cancer 1995; 62(4): 367\u201376.","journal-title":"Int J Cancer"},{"issue":"3","key":"5120359_CR15","doi-asserted-by":"publisher","first-page":"328","DOI":"10.1038\/ng1195-328","volume":"11","author":"P Valverde","year":"1995","unstructured":"Valverde P, Healy E, Jackson I et al. Variants of the melanocyte-stimulating hormone receptor gene are associated with red hair and fair skin in humans. Nat Genet 1995; 11(3): 328\u201330.","journal-title":"Nat Genet"},{"issue":"3","key":"5120359_CR16","doi-asserted-by":"publisher","first-page":"424","DOI":"10.1562\/0031-8655(2001)074<0424:MOPAIO>2.0.CO;2","volume":"74","author":"NP Smit","year":"2001","unstructured":"Smit NP, Vink AA, Kolb RM et al. Melan in offers protection against induction of cyclobutane pyrimidine dimers and 6\u20134 photoproducts by UVB in cultured human melanocytes. Photochem Photobiol 2001; 74(3): 424\u201330.","journal-title":"Photochem Photobiol"},{"issue":"10","key":"5120359_CR17","doi-asserted-by":"publisher","first-page":"1663","DOI":"10.1093\/hmg\/5.10.1663","volume":"5","author":"P Valverde","year":"1996","unstructured":"Valverde P, Healy E, Sikkink S et al. The Asp84Glu variant of the melanocort in 1 receptor (MC1R) is associated with melanoma. Hum Mol Genet 1996; 5(10): 1663\u20136.","journal-title":"Hum Mol Genet"},{"issue":"1","key":"5120359_CR18","doi-asserted-by":"publisher","first-page":"176","DOI":"10.1086\/302711","volume":"66","author":"JS Palmer","year":"2000","unstructured":"Palmer JS, Duffy DL, Box NF et al. Melanocortin-1 receptor polymorphisms and risk of melanoma: is the association explained solely by pigmentation phenotype? Am J Hum Genet 2000; 66(1): 176\u201386.","journal-title":"Am J Hum Genet"},{"issue":"4","key":"5120359_CR19","doi-asserted-by":"publisher","first-page":"774","DOI":"10.1086\/323411","volume":"69","author":"PA van der Velden","year":"2001","unstructured":"van der Velden PA, Sandkuijl LA, Bergman W et al. Melanocortin-1 receptor variant R151C modifies melanoma risk in Dutch families with melanoma. Am J Hum Genet 2001; 69(4): 774\u20139.","journal-title":"Am J Hum Genet"},{"issue":"2","key":"5120359_CR20","doi-asserted-by":"publisher","first-page":"294","DOI":"10.1046\/j.0022-202x.2001.01421.x","volume":"117","author":"C Kennedy","year":"2001","unstructured":"Kennedy C, ter Huurne J, Berkhout M et al. Melanocort in 1 Receptor (MC1R) gene variants are associated with an increased risk for cutaneous melanoma which is largely independent of skin type and hair color. J Invest Dermatol 2001; 117(2): 294\u2013300.","journal-title":"J Invest Dermatol"},{"issue":"4","key":"5120359_CR21","doi-asserted-by":"publisher","first-page":"765","DOI":"10.1086\/323412","volume":"69","author":"NF Box","year":"2001","unstructured":"Box NF, Duffy DL, Chen W et al. MC1R genotype modifies risk of melanoma in families segregating CDKN2A mutations. Am J Hum Genet 2001; 69(4): 765\u201373.","journal-title":"Am J Hum Genet"},{"issue":"3","key":"5120359_CR22","doi-asserted-by":"crossref","first-page":"605","DOI":"10.1016\/S0733-8635(18)30066-4","volume":"13","author":"AM Goldstein","year":"1995","unstructured":"Goldstein AM, Tucker MA. Genetic epidemiology of familial melanoma. Dermatol Clin 1995; 13(3): 605\u201312.","journal-title":"Dermatol Clin"},{"key":"5120359_CR23","volume-title":"The Hereditary Variant of Malignant Melanoma","author":"MH Greene","year":"1979","unstructured":"Greene MH, Fraumeni JF. The Hereditary Variant of Malignant Melanoma. New York: Grune and Stratton, 1979."},{"issue":"5","key":"5120359_CR24","doi-asserted-by":"publisher","first-page":"352","DOI":"10.1136\/jmg.15.5.352","volume":"15","author":"HT Lynch","year":"1978","unstructured":"Lynch HT, Frichot BC, III, Lynch JF. Familial atypical multiple mole-melanoma syndrome. J Med Genet 1978; 15(5): 352\u20136.","journal-title":"J Med Genet"},{"issue":"19","key":"5120359_CR25","doi-asserted-by":"publisher","first-page":"6071","DOI":"10.1073\/pnas.80.19.6071","volume":"80","author":"MH Greene","year":"1983","unstructured":"Greene MH, Goldin LR, Clark WHJ et al. Familial cutaneous malignant melanoma: autosomal dominant trait possibly linked to the Rh locus. Proc Natl Acad Sci USA 1983; 80(19): 6071\u20135.","journal-title":"Proc Natl Acad Sci USA"},{"issue":"21","key":"5120359_CR26","doi-asserted-by":"publisher","first-page":"1367","DOI":"10.1056\/NEJM198905253202102","volume":"320","author":"SJ Bale","year":"1989","unstructured":"Bale SJ, Dracopoli NC, Tucker MA et al. Mapping the gene for hereditary cutaneous malignant melanoma-dysplastic nevus to chromosome 1p. N Engl J Med 1989; 320(21): 1367\u201372.","journal-title":"N Engl J Med"},{"issue":"1","key":"5120359_CR27","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1016\/0888-7543(89)90086-4","volume":"5","author":"A van Haeringen","year":"1989","unstructured":"van Haeringen A, Bergman W, Nelen MR et al. Exclusion of the dysplastic nevus syndrome (DNS) locus from the short arm of chromosome 1 by linkage studies in Dutch families. Genomics 1989; 5(1): 61\u20134.","journal-title":"Genomics"},{"issue":"5","key":"5120359_CR28","first-page":"912","volume":"46","author":"LA Cannon-Albright","year":"1990","unstructured":"Cannon-Albright LA, Goldgar DE, Wright EC et al. Evidence against the reported linkage of the cutaneous melanoma-dysplastic nevus syndrome locus to chromosome Ip36. Am J Hum Genet 1990; 46(5): 912\u20138.","journal-title":"Am J Hum Genet"},{"issue":"1","key":"5120359_CR29","doi-asserted-by":"publisher","first-page":"45","DOI":"10.1016\/0165-4608(91)90007-H","volume":"51","author":"RF Kefford","year":"1991","unstructured":"Kefford RF, Salmon J, Shaw HM et al. Hereditary melanoma in Australia. Variable association with dysplastic nevi and absence of genetic linkage to chromosome 1p. Cancer Genet Cytogenet 1991; 51(1): 45\u201355.","journal-title":"Cancer Genet Cytogenet"},{"issue":"1","key":"5120359_CR30","doi-asserted-by":"publisher","first-page":"18","DOI":"10.1016\/0888-7543(92)90401-D","volume":"12","author":"DJ Nancarrow","year":"1992","unstructured":"Nancarrow DJ, Palmer JM, Walters MK et al. Exclusion of the familial melanoma locus (MLM) from the PND\/D1S47 and MYCL1 regions of chromosome arm 1p in 7 Australian pedigrees. Genomics 1992; 12(1): 18\u201325.","journal-title":"Genomics"},{"issue":"3","key":"5120359_CR31","first-page":"537","volume":"52","author":"AM Goldstein","year":"1993","unstructured":"Goldstein AM, Dracopoli NC, Ho EC et al. 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 1993; 52(3): 537\u201350.","journal-title":"Am J Hum Genet"},{"issue":"5085","key":"5120359_CR32","doi-asserted-by":"crossref","first-page":"1148","DOI":"10.1126\/science.1439824","volume":"258","author":"LA Cannon-Albright","year":"1992","unstructured":"Cannon-Albright LA, Goldgar DE, Meyer LJ et al. Assignment of a locus for familial melanoma, MLM, to chromosome 9p13-p22. Science 1992; 258(5085): 1148\u201352.","journal-title":"Science"},{"issue":"4","key":"5120359_CR33","first-page":"936","volume":"53","author":"DJ Nancarrow","year":"1993","unstructured":"Nancarrow DJ, Mann GJ, Holland EA et al. Confirmation of chromosome 9p linkage in familial melanoma. Am J Hum Genet 1993; 53(4): 936\u201342.","journal-title":"Am J Hum Genet"},{"issue":"4","key":"5120359_CR34","first-page":"271","volume":"3","author":"NA Gruis","year":"1993","unstructured":"Gruis NA, Sandkuijl LA, Weber JL et al. Linkage analysis in Dutch familial atypical multiple mole-melanoma (FAMMM) syndrome families. Effect of naevus count. Melanoma Res 1993; 3(4): 271\u201377.","journal-title":"Melanoma Res"},{"issue":"3","key":"5120359_CR35","first-page":"489","volume":"54","author":"AM Goldstein","year":"1994","unstructured":"Goldstein AM, Dracopoli NC, Engelstein M et al. Linkage of cutaneous malignant melanoma\/dysplastic nevi to chromosome 9p, and evidence for genetic heterogeneity. Am J Hum Genet 1994; 54(3): 489\u201396.","journal-title":"Am J Hum Genet"},{"issue":"12","key":"5120359_CR36","doi-asserted-by":"crossref","first-page":"2195","DOI":"10.1093\/hmg\/3.12.2195","volume":"3","author":"C MacGeoch","year":"1994","unstructured":"MacGeoch C, Bishop JA, Bataille V et al. Genetic heterogeneity in familial malignant melanoma. Hum Mol Genet 1994; 3(12): 2195\u2013200.","journal-title":"Hum Mol Genet"},{"issue":"5157","key":"5120359_CR37","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1126\/science.8153634","volume":"264","author":"A Kamb","year":"1994","unstructured":"Kamb A, Gruis NA, Weaver-Feldhaus J et al. A cell cycle regulator potentially involved in genesis of many tumor types. Science 1994; 264(5157): 436\u201340.","journal-title":"Science"},{"issue":"6456","key":"5120359_CR38","doi-asserted-by":"publisher","first-page":"704","DOI":"10.1038\/366704a0","volume":"366","author":"M Serrano","year":"1993","unstructured":"Serrano M, Hannon GJ, Beach D. A new regulatory motif in cellcycle control causing specific inhibition of cyclin D\/CDK4. Nature 1993; 366(6456): 704\u20137.","journal-title":"Nature"},{"issue":"2","key":"5120359_CR39","doi-asserted-by":"publisher","first-page":"263","DOI":"10.1006\/jmbi.2001.5110","volume":"314","author":"B Bothner","year":"2001","unstructured":"Bothner B, Lewis WS, DiGiammarino EL et al. Defining the molecular basis of Arf and Hdm2 interactions. J Mol Biol 2001; 314(2): 263\u201377.","journal-title":"J Mol Biol"},{"issue":"4","key":"5120359_CR40","doi-asserted-by":"crossref","first-page":"300","DOI":"10.1007\/s11912-000-0022-z","volume":"2","author":"N. Hayward","year":"2000","unstructured":"Hayward N. New developments in melanoma genetics. Curr Oncol Rep 2000; 2(4): 300\u20136.","journal-title":"Curr Oncol Rep"},{"issue":"11","key":"5120359_CR41","first-page":"2497","volume":"56","author":"A Borg","year":"1996","unstructured":"Borg A, Johannsson U, Johannsson O et al. Novel germline p16 mutation in familial malignant melanoma in southern Sweden. Cancer Res 1996; 56(11): 2497\u2013500.","journal-title":"Cancer Res"},{"issue":"6","key":"5120359_CR42","doi-asserted-by":"publisher","first-page":"424","DOI":"10.1002\/(SICI)1098-1004(1998)11:6<424::AID-HUMU2>3.0.CO;2-2","volume":"11","author":"PM Pollock","year":"1998","unstructured":"Pollock PM, Spurr N, Bishop T et al. Haplotype analysis of two recurrent CDKN2A mutations in 10 melanoma families: evidence for common founders and independent mutations. Hum Mutat 1998; 11(6): 424\u201331.","journal-title":"Hum Mutat"},{"issue":"1","key":"5120359_CR43","doi-asserted-by":"publisher","first-page":"128","DOI":"10.1038\/5082","volume":"21","author":"L Liu","year":"1999","unstructured":"Liu L, Dilworth D, Gao L et al. Mutation of the CDKN2A 5??UTR creates an aberrant initiation codon and predisposes to melanoma. Nat Genet 1999; 21(1): 128\u201332.","journal-title":"Nat Genet"},{"issue":"2","key":"5120359_CR44","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 et al. A single genetic origin for the G101W CDKN2A mutation in 20 melanoma-prone families. Am J Hum Genet 2000; 67(2): 311\u20139.","journal-title":"Am J Hum Genet"},{"issue":"3","key":"5120359_CR45","doi-asserted-by":"publisher","first-page":"351","DOI":"10.1038\/ng0795-351","volume":"10","author":"NA Gruis","year":"1995","unstructured":"Gruis NA, van der Velden PA, Sandkuijl LA et al. Homozygotes for CDKN2 (p16) germline mutation in Dutch familial melanoma kindreds. Nat Genet 1995; 10(3): 351\u20133.","journal-title":"Nat Genet"},{"issue":"5","key":"5120359_CR46","doi-asserted-by":"publisher","first-page":"788","DOI":"10.1046\/j.1523-1747.1998.00185.x","volume":"110","author":"ET Hille","year":"1998","unstructured":"Hille ET, van Duijn E, Gruis NA et al. Excess cancer mortality in six Dutch pedigrees with the familial atypical multiple molemelanoma syndrome from 1830 to 1994. J Invest Dermatol 1998; 110(5): 788\u201392.","journal-title":"J Invest Dermatol"},{"issue":"12","key":"5120359_CR47","doi-asserted-by":"crossref","first-page":"894","DOI":"10.1093\/jnci\/94.12.894","volume":"94","author":"DT Bishop","year":"2002","unstructured":"Bishop DT, Demenais F, Goldstein AM et al. Geographical variation in the penetrance of CDKN2A mutations for melanoma. J Natl Cancer Inst 2002; 94(12): 894\u2013903.","journal-title":"J Natl Cancer Inst"},{"issue":"39","key":"5120359_CR48","doi-asserted-by":"publisher","first-page":"5543","DOI":"10.1038\/sj.onc.1204728","volume":"20","author":"H Rizos","year":"2001","unstructured":"Rizos H, Puig S, Badenas C et al. A melanoma-associated germline mutation in exon 1beta inactivates p14ARF. Oncogene 2001; 20(39): 5543\u20137.","journal-title":"Oncogene"},{"issue":"1","key":"5120359_CR49","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 et al. A germline deletion of p14(ARF) but not CDKN2A in a melanoma-neural system tumour syndrome family. Hum Mol Genet 2001; 10(1): 55\u201362.","journal-title":"Hum Mol Genet"},{"issue":"11","key":"5120359_CR50","doi-asserted-by":"publisher","first-page":"1273","DOI":"10.1093\/hmg\/11.11.1273","volume":"11","author":"C Hewitt","year":"2002","unstructured":"Hewitt C, Lee WC, Evans G et al. Germline mutation of ARF in a melanoma kindred. Hum Mol Genet 2002; 11(11): 1273\u20139.","journal-title":"Hum Mol Genet"},{"issue":"5","key":"5120359_CR51","doi-asserted-by":"publisher","first-page":"649","DOI":"10.1016\/S0092-8674(00)80452-3","volume":"91","author":"T Kamijo","year":"1997","unstructured":"Kamijo T, Zindy F, Roussel MF et al. Tumor suppression at the mouse INK4a locus mediated by the alternative reading frame product p19ARF. Cell 1997; 91(5): 649\u201359.","journal-title":"Cell"},{"issue":"6851","key":"5120359_CR52","doi-asserted-by":"publisher","first-page":"83","DOI":"10.1038\/35092584","volume":"413","author":"P Krimpenfort","year":"2001","unstructured":"Krimpenfort P, Quon KC, Mooi WJ et al. Loss of p16Ink4a confers susceptibility to metastatic melanoma in mice. Nature 2001; 413(6851): 83\u20136.","journal-title":"Nature"},{"issue":"9300","key":"5120359_CR53","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1016\/S0140-6736(02)07271-9","volume":"359","author":"GJ Walker","year":"2002","unstructured":"Walker GJ, Hayward NK. p16INK4A and p14ARF tumour suppressors in melanoma: lessons from the mouse. Lancet 2002; 359(9300): 7\u20138.","journal-title":"Lancet"},{"key":"5120359_CR54","doi-asserted-by":"publisher","first-page":"8135","DOI":"10.1128\/MCB.22.23.8135-8143.2002","volume":"22","author":"TJ Huot","year":"2002","unstructured":"Huot TJ, Rowe J, Harland M et al. Biallelic mutations in p16INK4a confer resistance to Ras-and Ets-induced senescence in human diploid fibroblasts. Mol Cell Biol. 2002; 22: 8135\u201343.","journal-title":"Mol Cell Biol."},{"issue":"4","key":"5120359_CR55","first-page":"667","volume":"20","author":"PM Pollock","year":"2000","unstructured":"Pollock PM, Trent JM. The genetics of cutaneous melanoma. Clin Lab Med 2000; 20(4): 667\u201390.","journal-title":"Clin Lab Med"},{"issue":"6","key":"5120359_CR56","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1101\/gr.9.6.575","volume":"9","author":"LA Sandkuijl","year":"1999","unstructured":"van der Velden, Sandkuijl LA, Bergman W et al. A locus linked to p16 modifies melanoma risk in Dutch familial atypical multiple mole melanoma (FAMMM) syndrome families. Genome Res 1999; 9(6): 575\u201380.","journal-title":"Genome Res"},{"issue":"23","key":"5120359_CR57","doi-asserted-by":"publisher","first-page":"2679","DOI":"10.1093\/hmg\/10.23.2679","volume":"10","author":"M Harland","year":"2001","unstructured":"Harland M, Mistry S, Bishop DT, Newton Bishop JA. A deep intronic mutation in CDKN2A is associated with disease in a subset of melanoma pedigrees. Hum Mol Genet 2001; 10(23): 2679\u201386.","journal-title":"Hum Mol Genet"},{"issue":"1","key":"5120359_CR58","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 et al. Germline mutations in the p16INK4a binding domain of CDK4 in familial melanoma. Nat Genet 1996; 12(1): 97\u20139.","journal-title":"Nat Genet"},{"issue":"2","key":"5120359_CR59","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 et al. Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France. The French Familial Melanoma Study Group. Hum Mol Genet 1998; 7(2): 209\u201316.","journal-title":"Hum Mol Genet"},{"issue":"1","key":"5120359_CR60","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 et al. Germline p16 mutations in familial melanoma. Nat Genet 1994; 8(1): 15\u201321.","journal-title":"Nat Genet"},{"issue":"3","key":"5120359_CR61","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1097\/00008390-199506000-00005","volume":"5","author":"NA Gruis","year":"1995","unstructured":"Gruis NA, Sandkuijl LA, van der Velden PA et al. CDKN2 explains part of the clinical phenotype in Dutch familial atypical multiple-mole melanoma (FAMMM) syndrome families. Melanoma Res 1995; 5(3): 169\u201377.","journal-title":"Melanoma Res"},{"issue":"5","key":"5120359_CR62","doi-asserted-by":"publisher","first-page":"348","DOI":"10.1056\/NEJM199807303390515","volume":"339","author":"RC Wachsmuth","year":"1998","unstructured":"Wachsmuth RC, Harland M, Bishop JA. The atypical-mole syndrome and predisposition to melanoma. N Engl J Med 1998; 339(5): 348\u20139.","journal-title":"N Engl J Med"},{"issue":"9","key":"5120359_CR63","first-page":"889","volume":"9","author":"AM Goldstein","year":"2000","unstructured":"Goldstein AM, Martinez M, Tucker MA, Demenais F. Genecovariate interaction between dysplastic nevi and the CDKN2A gene in American melanoma-prone families. Cancer Epidemiol Biomarkers Prev 2000; 9(9): 889\u201394.","journal-title":"Cancer Epidemiol Biomarkers Prev"},{"issue":"1","key":"5120359_CR64","doi-asserted-by":"publisher","first-page":"28","DOI":"10.1046\/j.1523-1747.2000.00823.x","volume":"114","author":"JA Bishop","year":"2000","unstructured":"Bishop JA, Wachsmuth RC, Harland M et al. Genotype\/ Phenotype and Penetrance Studies in Melanoma Families with Germline CDKN2A Mutations. J Invest Dermatol 2000; 114(1): 28\u201333.","journal-title":"J Invest Dermatol"},{"issue":"6","key":"5120359_CR65","doi-asserted-by":"crossref","first-page":"1164","DOI":"10.1038\/bjc.1991.483","volume":"64","author":"DF Easton","year":"1991","unstructured":"Easton DF, Cox GM, Macdonald AM, Ponder BA. Genetic susceptibility to naevi-a twin study. Br J Cancer 1991; 64(6): 1164\u20137.","journal-title":"Br J Cancer"},{"issue":"1","key":"5120359_CR66","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1097\/00008390-199304000-00003","volume":"3","author":"AM Goldstein","year":"1993","unstructured":"Goldstein AM, Tucker MA, Crutcher WA et al. The inheritance pattern of dysplastic naevi in families of dysplastic naevus patients. Melanoma Res 1993; 3(1): 15\u201322.","journal-title":"Melanoma Res"},{"issue":"2","key":"5120359_CR67","doi-asserted-by":"publisher","first-page":"483","DOI":"10.1086\/302494","volume":"65","author":"G Zhu","year":"1999","unstructured":"Zhu G, Duffy DL, Eldridge A et al. A major quantitative-trait locus for mole density is linked to the familial melanoma gene CDKN2A: a maximum-likelihood combined linkage and association analysis in twins and their sibs. Am J Hum Genet 1999; 65(2): 483\u201392.","journal-title":"Am J Hum Genet"},{"issue":"2","key":"5120359_CR68","doi-asserted-by":"publisher","first-page":"348","DOI":"10.1046\/j.0022-202x.2001.01415.x","volume":"117","author":"RC Wachsmuth","year":"2001","unstructured":"Wachsmuth RC, Gaut RM, Barrett JH et al. Heritability and gene-environment interactions for melanocytic nevus density examined in a U.K. adolescent twin study. J Invest Dermatol 2001; 117(2): 348\u201352.","journal-title":"J Invest Dermatol"},{"issue":"4","key":"5120359_CR69","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1097\/00008390-199408000-00001","volume":"4","author":"JA Newton Bishop","year":"1994","unstructured":"Newton Bishop JA, Bataille V, Pinney E, Bishop DT. Family studies in melanoma: identification of the atypical mole syndrome (AMS) phenotype. Melanoma Res 1994; 4(4): 199\u2013206.","journal-title":"Melanoma Res"},{"issue":"4","key":"5120359_CR70","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1038\/bjc.1981.225","volume":"44","author":"HT Lynch","year":"1981","unstructured":"Lynch HT, Fusaro RM, Pester J et al. Tumour spectrum in the FAMMM syndrome. Br J Cancer 1981; 44(4): 553\u201360.","journal-title":"Br J Cancer"},{"issue":"20","key":"5120359_CR71","doi-asserted-by":"crossref","first-page":"1489","DOI":"10.1093\/jnci\/88.20.1489","volume":"88","author":"WG Yarbrough","year":"1996","unstructured":"Yarbrough WG, Aprelikova O, Pei H et al. Familial tumor syndrome associated with a germline nonfunctional p16INK4a allele. J Natl Cancer Inst 1996; 88(20): 1489\u201391.","journal-title":"J Natl Cancer Inst"},{"issue":"3","key":"5120359_CR72","doi-asserted-by":"publisher","first-page":"359","DOI":"10.1007\/s004390050642","volume":"101","author":"S Puig","year":"1997","unstructured":"Puig S, Ruiz A, Castel T et al. Inherited susceptibility to several cancers but absence of linkage between dysplastic nevus syndrome and CDKN2A in a melanoma family with a mutation in the CDKN2A (P16INK4A) gene. Hum Genet 1997; 101(3): 359\u201364.","journal-title":"Hum Genet"},{"issue":"6","key":"5120359_CR73","doi-asserted-by":"crossref","first-page":"932","DOI":"10.1038\/bjc.1990.209","volume":"61","author":"W Bergman","year":"1990","unstructured":"Bergman W, Watson P, de Jong J et al. Systemic cancer and the FAMMM syndrome. Br J Cancer 1990; 61(6): 932\u20136.","journal-title":"Br J Cancer"},{"issue":"15","key":"5120359_CR74","doi-asserted-by":"publisher","first-page":"975","DOI":"10.1056\/NEJM199510123331505","volume":"333","author":"AJ Whelan","year":"1995","unstructured":"Whelan AJ, Bartsch D, Goodfellow PJ. Brief report: a familial syndrome of pancreatic cancer and melanoma with a mutation in the CDKN2 tumor-suppressor gene. N Engl J Med 1995; 333(15): 975\u20137.","journal-title":"N Engl J Med"},{"issue":"15","key":"5120359_CR75","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 et al. High frequency of multiple melanomas and breast and pancreas carcinomas in CDKN2A mutation-positive melanoma families. J Natl Cancer Inst 2000; 92(15): 1260\u20136.","journal-title":"J Natl Cancer Inst"},{"issue":"15","key":"5120359_CR76","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 et al. Increased risk of pancreatic cancer in melanoma-prone kindreds with p16INK4 mutations. N Engl J Med 1995; 333(15): 970\u20134.","journal-title":"N Engl J Med"},{"issue":"1","key":"5120359_CR77","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1038\/ng0994-27","volume":"8","author":"C Caldas","year":"1994","unstructured":"Caldas C, Hahn SA, da Costa LT et al. Frequent somatic mutations and homozygous deletions of the p16 (MTS1) gene in pancreatic adenocarcinoma. Nat Genet 1994; 8(1): 27\u201332.","journal-title":"Nat Genet"},{"issue":"13","key":"5120359_CR78","first-page":"5303","volume":"61","author":"PA van der Velden","year":"2001","unstructured":"van der Velden PA, Metzelaar-Blok JA, Bergman W et al. Promoter hypermethylation: a common cause of reduced p16(INK4a) expression in uveal melanoma. Cancer Res 2001; 61(13): 5303\u20136.","journal-title":"Cancer Res"},{"issue":"6","key":"5120359_CR79","first-page":"768","volume":"23","author":"AD Singh","year":"1996","unstructured":"Singh AD, Wang MX, Donoso LA et al. Genetic aspects of uveal melanoma: a brief review. Semin Oncol 1996; 23(6): 768\u201372.","journal-title":"Semin Oncol"},{"issue":"4","key":"5120359_CR80","doi-asserted-by":"publisher","first-page":"818","DOI":"10.1054\/bjoc.1999.1005","volume":"82","author":"N Soufir","year":"2000","unstructured":"Soufir N, Bressac-de-Paillerets B, Desjardins L et al. Individuals with presumably hereditary uveal melanoma do not harbour germline mutations in the coding regions of either the P16INK4A, P14ARF or cdk4 genes. Br J Cancer 2000; 82(4): 818\u201322.","journal-title":"Br J Cancer"},{"issue":"12","key":"5120359_CR81","doi-asserted-by":"publisher","first-page":"852","DOI":"10.1136\/jmg.38.12.852","volume":"38","author":"M Duisterhof","year":"2001","unstructured":"Duisterhof M, Trijsburg RW, Niermeijer MF et al. Psychological studies in Huntington' disease: making up the balance. J Med Genet 2001; 38(12): 852\u201361.","journal-title":"J Med Genet"},{"issue":"1","key":"5120359_CR82","doi-asserted-by":"publisher","first-page":"94","DOI":"10.1002\/ajmg.1320440122","volume":"44","author":"A Tibben","year":"1992","unstructured":"Tibben A, Vegter-van der Vlis M, Skraastad MI et al. DNA testing for Huntington' disease in The Netherlands: a retrospective study on psychosocial effects. Am J Med Genet 1992; 44(1): 94\u20139.","journal-title":"Am J Med Genet"},{"issue":"5","key":"5120359_CR83","doi-asserted-by":"crossref","first-page":"1730","DOI":"10.1200\/JCO.1996.14.5.1730","volume":"14","author":"Statement of the American Society of Clinical Oncology","year":"1996","unstructured":"Statement of the American Society of Clinical Oncology: genetic testing for cancer susceptibility, adopted on February 20, 1996. J Clin Oncol 1996; 14(5): 1730\u20136.","journal-title":"J Clin Oncol"},{"issue":"10","key":"5120359_CR84","doi-asserted-by":"crossref","first-page":"3245","DOI":"10.1200\/JCO.1999.17.10.3245","volume":"17","author":"RF Kefford","year":"1999","unstructured":"Kefford RF, Newton BJ, Bergman W, Tucker MA. Counseling and DNA testing for individuals perceived to be genetically predisposed to melanoma: a consensus statement of the melanoma genetics consortium. J Clin Oncol 1999; 17(10): 3245\u201351.","journal-title":"J Clin Oncol"},{"issue":"6","key":"5120359_CR85","doi-asserted-by":"publisher","first-page":"809","DOI":"10.1002\/1097-0215(20000915)87:6<809::AID-IJC8>3.0.CO;2-U","volume":"87","author":"HF Vasen","year":"2000","unstructured":"Vasen HF, Gruis NA, Frants RR et al. Risk of developing pancreatic cancer in families with familial atypical multiple mole melanoma associated with a specific 19 deletion of p16 (p16-Leiden). Int J Cancer 2000; 87(6): 809\u201311.","journal-title":"Int J Cancer"},{"issue":"2","key":"5120359_CR86","doi-asserted-by":"publisher","first-page":"301","DOI":"10.1086\/377140","volume":"73","author":"E Gillanders","year":"2003","unstructured":"Gillanders E, Hank Juo SH, Holland EA et al. Localization of a novel melanoma susceptibility locus to 1p22. Am J Hum Genet 2003; 73(2): 301\u201313","journal-title":"Am J Hum Genet"}],"container-title":["Familial Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1023\/A:1025758527675.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1023\/A:1025758527675\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1023\/A:1025758527675.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,5]],"date-time":"2025-08-05T04:40:53Z","timestamp":1754368853000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1023\/A:1025758527675"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,6]]},"references-count":86,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2003,6]]}},"alternative-id":["5120359"],"URL":"https:\/\/doi.org\/10.1023\/a:1025758527675","relation":{},"ISSN":["1389-9600","1573-7292"],"issn-type":[{"type":"print","value":"1389-9600"},{"type":"electronic","value":"1573-7292"}],"subject":[],"published":{"date-parts":[[2003,6]]}}}