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  • Goldstein, Alisa M. (author)

High-risk melanoma susceptibility genes and pancreatic cancer, neural system tumors, and uveal melanoma across GenoMEL

  • Article/chapterEnglish2006

Publisher, publication year, extent ...

  • 2006

Numbers

  • LIBRIS-ID:oai:lup.lub.lu.se:c4c101d4-cd49-4146-9519-6c1038f1ec67
  • https://lup.lub.lu.se/record/388145URI
  • https://doi.org/10.1158/0008-5472.CAN-06-0494DOI
  • http://kipublications.ki.se/Default.aspx?queryparsed=id:1931518URI

Supplementary language notes

  • Language:English
  • Summary in:English

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  • Subject category:art swepub-publicationtype
  • Subject category:ref swepub-contenttype

Notes

  • GenoMEL, comprising major familial melanoma research groups from North America, Europe, Asia, and Australia has created the largest familial melanoma sample yet available to characterize mutations in the high-risk melanoma susceptibility genes CDKN2A/alternate reading frames (ARF), which encodes p16 and p14ARF, and CDK4 and to evaluate their relationship with pancreatic cancer (PC), neural system tumors (NST), and uveal melanoma (UM). This study included 466 families (2,137 patients) with at least three melanoma patients from 17 GenoMEL centers. Overall, 41% (n = 190) of families had mutations; most involved p16 (n = 178). Mutations in CDK4 (n = 5) and ARF (n = 7) occurred at similar frequencies (2-3%). There were striking differences in mutations across geographic locales. The proportion of families with the most frequent founder mutation(s) of each locale differed significantly across the seven regions (P = 0.0009). Single founder CDKN2A mutations were predominant in Sweden (p.R112_L113insR, 92% of family's mutations) and the Netherlands (c.225_243del19, 90% of family's mutations). France, Spain, and Italy had the same most frequent mutation (p.G101W). Similarly, Australia and United Kingdom had the same most common mutations (p.M53I, cdVS2-105A > G, p.R24P, and p.L32P). As reported previously, there was a strong association between PC and CDKN2A mutations (P < 0.0001). This relationship differed by mutation. In contrast, there was little evidence for an association between CDKN2A mutations and NST (P = 0.52) or UM (P = 0.25). There was a marginally significant association between NST and ARF (P = 0.05). However, this particular evaluation had low power and requires confirmation. This GenoMEL study provides the most extensive characterization of mutations in high-risk melanoma susceptibility genes in families with three or more melanoma patients yet available.

Subject headings and genre

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  • Chan, May (author)
  • Harland, Mark (author)
  • Gillanders, Elizabeth M. (author)
  • Hayward, Nicholas K. (author)
  • Avril, Marie-Francoise (author)
  • Azizi, Esther (author)
  • Bianchi-Scarra, Giovanna (author)
  • Bishop, D. Timothy (author)
  • Bressac-de Paillerets, Brigitte (author)
  • Bruno, William (author)
  • Calista, Donato (author)
  • Cannon Albright, Lisa A. (author)
  • Demenais, Florence (author)
  • Elder, David E. (author)
  • Ghiorzo, Paola (author)
  • Gruis, Nelleke A. (author)
  • Hansson, JohanKarolinska Institutet (author)
  • Hogg, David (author)
  • Holland, Elizabeth A. (author)
  • Kanetsky, Peter A. (author)
  • Kefford, Richard F. (author)
  • Landi, Maria Teresa (author)
  • Lang, Julie (author)
  • Leachman, Sancy A. (author)
  • MacKie, Rona M. (author)
  • Magnusson, VeronicaKarolinska Institutet,Lund University,Lunds universitet,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Department of Clinical Sciences, Lund,Faculty of Medicine(Swepub:lu)med-vim (author)
  • Mann, Graham J. (author)
  • Niendorf, Kristin (author)
  • Newton Bishop, Julia (author)
  • Palmer, Jane M. (author)
  • Puig, Susana (author)
  • Puig-Butille, Joan A. (author)
  • de Snoo, Femke A. (author)
  • Stark, Mitchell (author)
  • Tsao, Hensin (author)
  • Tucker, Margaret A. (author)
  • Whitaker, Linda (author)
  • Yakobson, Emanuel (author)
  • Borg, ÅkeLund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine(Swepub:lu)onk-abo (author)
  • Olsson, HåkanLund University,Lunds universitet,Tumörmikromiljö,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Tumor microenvironment,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine(Swepub:lu)onk-hol (author)
  • Karolinska InstitutetInstitutionen för kliniska vetenskaper, Lund (creator_code:org_t)

Related titles

  • In:Cancer Research66:20, s. 9818-98281538-74450008-5472

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