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Åke Borg

Åke Borg

Principal investigator

Åke Borg

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

Author

  • E Rozenblum
  • P Vahteristo
  • Therese Törngren
  • JT Bergthorsson
  • K Syrjakoski
  • D Weaver
  • Karin Haraldsson
  • HK Johannsdottir
  • P Vehmanen
  • S Nigam
  • N Golberger
  • C Robbins
  • E Pak
  • A Dutra
  • E Gillander
  • DA Stephan
  • J Bailey-Wilson
  • SHH Juo
  • T Kainu
  • A Arason
  • RB Barkardottir
  • H Nevanlinna
  • Åke Borg
  • OP Kallioniemi
Show all

Summary, in English

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.

Department/s

  • Breastcancer-genetics

Publishing year

2002

Language

English

Pages

111-121

Publication/Series

Human Genetics

Volume

110

Issue

2

Document type

Journal article

Publisher

Springer

Topic

  • Medical Genetics

Status

Published

ISBN/ISSN/Other

  • ISSN: 1432-1203