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Novel germline p16 mutation in familial malignant melanoma in southern Sweden

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

Abstract 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.


  • Cancer and Oncology
  • 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


  • Lund Melanoma Study Group
  • ISSN: 0008-5472
Åke Borg
Åke Borg
E-mail: ake [dot] borg [at] med [dot] lu [dot] se

Principal investigator

Oncology and Pathology, MV

+46 46 275 25 52

MV 404 C21B2


Project manager

Familial Breast Cancer



Oncology and Pathology, MV

MV 404 C21C2