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Träfflista för sökning "WFRF:(Ingvar C.) srt2:(1995-1999)"

Search: WFRF:(Ingvar C.) > (1995-1999)

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1.
  • Petersson, C, et al. (author)
  • Chromosome aberrations in prophylactic mastectomies from women belonging to breast cancer families
  • 1996
  • In: Genes, Chromosomes and Cancer. - 1045-2257. ; 16:3, s. 185-188
  • Journal article (peer-reviewed)abstract
    • Short-term cultures of samples from eight prophylactic mastectomies from five unrelated women who were genetically predisposed to breast cancer were analyzed cytogenetically. Clonal chromosome abnormalities were detected in five breasts. Three samples from two women had aberrations involving the short arm of chromosome 3, with a breakpoint in 3p14 in common. Three samples from three women had rearrangements of 1q. Two of them, one of which also displayed a 3p14 rearrangement, shared a breakpoint in 1q41. Both 1q41 and, in particular, 3p14 have been reported to be rearranged frequently in malignant breast proliferations. Whether alterations of genes in these bands are essential in mammary tumorigenesis and, if so, whether they are equally important in sporadic and in hereditary cases remains to be explored.
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  • Borg, Åke, et al. (author)
  • Novel germline p16 mutation in familial malignant melanoma in southern Sweden
  • 1996
  • In: Cancer Research. - 0008-5472. ; 56:11, s. 500-2497
  • Journal article (peer-reviewed)abstract
    • 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.
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  • Result 1-10 of 26

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