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Åke Borg

Åke Borg

Principal investigator

Åke Borg

Novel germline p16 mutation in familial malignant melanoma in southern Sweden

Author

  • Åke Borg
  • U Johannsson
  • O Johannsson
  • Sara Hakansson
  • J Westerdahl
  • A Mäsbäck
  • Håkan Olsson
  • C Ingvar

Summary, in English

The p16 (CDKN2/MTS1/INK4a) malignant melanoma susceptibility gene was analyzed in 10 melanoma kindreds from southern Sweden using single-stranded conformation polymorphism analysis of all three exons and flanking intron regions followed by sequence analysis. A novel germline mutation, constituting an in-frame 3-bp duplication at nucleotide 332 in exon 2, was identified in two families (Lund M2 and M9). The mutation results in an insertion of Arg at codon 105, which interrupts the last of the four ankyrin repeats of the p16 protein, motifs which have been demonstrated as important in binding and inhibiting the activity of cyclin D-dependent kinases 4 and 6 in cell cycle G1 phase regulation. All five tested individuals of Lund M2 and M9 affected by melanoma were mutation carriers, as were five melanoma-free individuals. Other malignancies observed in gene carriers or obligate carriers included cervical, breast, and pancreatic carcinomas and a non-Hodgkin's lymphoma. Analysis of microsatellite markers adjacent to the p16 gene at chromosomal region 9p21 revealed that both families share a common haplotype, in keeping with a common ancestor.

Department/s

  • Breastcancer-genetics
  • Surgery (Lund)
  • Tumor microenvironment
  • Medical oncology
  • Lund Melanoma Study Group

Publishing year

1996-06-01

Language

English

Pages

500-2497

Publication/Series

Cancer Research

Volume

56

Issue

11

Document type

Journal article

Publisher

American Association for Cancer Research Inc.

Topic

  • Cancer and Oncology

Keywords

  • Carrier Proteins
  • Chromosomes, Human, Pair 9
  • Cyclin-Dependent Kinase Inhibitor p16
  • Female
  • Genes
  • Genes, Tumor Suppressor
  • Humans
  • Male
  • Melanoma
  • Pedigree
  • Point Mutation
  • Polymorphism, Single-Stranded Conformational
  • Sweden

Status

Published

Research group

  • Lund Melanoma Study Group

ISBN/ISSN/Other

  • ISSN: 0008-5472