Original Investigation

Human Genetics

, Volume 110, Issue 2, pp 111-121

A genomic map of a 6-Mb region at 13q21-q22 implicated in cancer development: identification and characterization of candidate genes

  • Ester RozenblumAffiliated withCancer Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
  • , Pia VahteristoAffiliated withObstetrics and Gynecology, Helsinki University Central Hospital, 00029 Helsinki, Finland
  • , Therese SandbergAffiliated withDepartment of Oncology, University Hospital, 221 85 Lund, Sweden
  • , Jon BergthorssonAffiliated withLaboratory of Cell Biology, House 14, Department of Pathology, University Hospital of Iceland, 101 Reykjavik, Iceland
  • , Kirsi SyrjakoskiAffiliated withLaboratory of Cancer Genetics, Tampere University and University Hospital, 33520 Tampere, Finland
  • , Don WeaverAffiliated withCancer Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
  • , Karin HaraldssonAffiliated withDepartment of Oncology, University Hospital, 221 85 Lund, Sweden
  • , Hrefna JohannsdottirAffiliated withLaboratory of Cell Biology, House 14, Department of Pathology, University Hospital of Iceland, 101 Reykjavik, Iceland
  • , Paula VehmanenAffiliated withCancer Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    • , Savita NigamAffiliated withCancer Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    • , Natalie GolbergerAffiliated withCancer Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    • , Christiane RobbinsAffiliated withCancer Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    • , Evgenia PakAffiliated withGenetic Diseases Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    • , Amalia DutraAffiliated withGenetic Diseases Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    • , Elizabeth GillanderAffiliated withCancer Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    • , Dietrich A. StephanAffiliated withCancer Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    • , Joan Bailey-WilsonAffiliated withInherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    • , Suh-Hang JuoAffiliated withInherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    • , Tommi KainuAffiliated withCancer Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    • , Adalgeir ArasonAffiliated withLaboratory of Cell Biology, House 14, Department of Pathology, University Hospital of Iceland, 101 Reykjavik, Iceland
    • , Rosa BarkardottirAffiliated withLaboratory of Cell Biology, House 14, Department of Pathology, University Hospital of Iceland, 101 Reykjavik, Iceland
    • , Heli NevanlinnaAffiliated withObstetrics and Gynecology, Helsinki University Central Hospital, 00029 Helsinki, Finland
    • , Ake BorgAffiliated withDepartment of Oncology, University Hospital, 221 85 Lund, Sweden
    • , Olli-P. KallioniemiAffiliated withCancer Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA

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Abstract.

Chromosomal region 13q21-q22 harbors a putative breast cancer susceptibility gene and has been implicated as a common site for somatic deletions in a variety of malignant tumors. We have built a complete physical clone contig for a region between D13S1308 and AFM220YE9 based on 18 yeast artificial chromosome and 81 bacterial artificial chromosome (BAC) clones linked together by 22 genetic markers and 61 other sequence tagged sites. Combining data from 47 sequenced BACs (as of June 2001), we have assembled in silico an integrated 5.7-Mb genomic map with 90% sequence coverage. This area contains eight known genes, two hypothetical proteins, 24 additional Unigene clusters, and approximately 100 predicted genes and exons. We have determined the cDNA and genomic sequence, and tissue expression profiles for the KIAA1008 protein (homologous to the yeast mitotic control protein dis3+), KLF12 (AP-2 repressor), progesterone induced blocking factor 1, zinc finger transcription factor KLF5, and LIM domain only-7, and for the hypothetical proteins FLJ22624 and FLJ21869. Mutation screening of the five known genes in 19 breast cancer families has revealed numerous polymorphisms, but no deleterious mutations. These data provide a basis and resources for further analyses of this chromosomal region in the development of cancer.