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

  • 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
Publishing year: 2002
Language: English
Pages: 111-121
Publication/Series: Human Genetics
Volume: 110
Issue: 2
Document type: Journal article
Publisher: Springer

Abstract 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.


  • Medical Genetics


  • ISSN: 1432-1203
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