title: A genomic map of a 6-Mb region at 13q21-q22 implicated in cancer development: identification and characterization of candidate genes.
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.
authors.affiliation: Cancer Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
authors.forename: Ester
authors.initials: E
authors.lastname: Rozenblum
authors.forename: Pia
authors.initials: P
authors.lastname: Vahteristo
authors.forename: Therese
authors.initials: T
authors.lastname: Sandberg
authors.forename: Jon Thor
authors.initials: JT
authors.lastname: Bergthorsson
authors.forename: Kirsi
authors.initials: K
authors.lastname: Syrjakoski
authors.forename: Don
authors.initials: D
authors.lastname: Weaver
authors.forename: Karin
authors.initials: K
authors.lastname: Haraldsson
authors.forename: Hrefna Kristin
authors.initials: HK
authors.lastname: Johannsdottir
authors.forename: Paula
authors.initials: P
authors.lastname: Vehmanen
authors.forename: Savita
authors.initials: S
authors.lastname: Nigam
authors.forename: Natalie
authors.initials: N
authors.lastname: Golberger
authors.forename: Christiane
authors.initials: C
authors.lastname: Robbins
authors.forename: Evgenia
authors.initials: E
authors.lastname: Pak
authors.forename: Amalia
authors.initials: A
authors.lastname: Dutra
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Gillander
authors.forename: Dietrich A
authors.initials: DA
authors.lastname: Stephan
authors.forename: Joan
authors.initials: J
authors.lastname: Bailey-Wilson
authors.forename: Suh-Hang Hank
authors.initials: SH
authors.lastname: Juo
authors.forename: Tommi
authors.initials: T
authors.lastname: Kainu
authors.forename: Adalgeir
authors.initials: A
authors.lastname: Arason
authors.forename: Rosa Bjork
authors.initials: RB
authors.lastname: Barkardottir
authors.forename: Heli
authors.initials: H
authors.lastname: Nevanlinna
authors.forename: Ake
authors.initials: A
authors.lastname: Borg
authors.forename: Olli-P
authors.initials: OP
authors.lastname: Kallioniemi
mesh_terms: D001483:Base Sequence; D001943:Breast Neoplasms / Q000235:genetics*; D002874:Chromosome Mapping; D002882:Chromosomes, Human, Pair 13; D003001:Cloning, Molecular; D017931:DNA Primers; D018076:DNA, Complementary; D005091:Exons; D005260:Female; D005387:Finland; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D005819:Genetic Markers; D018398:Homeodomain Proteins; D006801:Humans; D007055:Iceland; D017404:In Situ Hybridization, Fluorescence; D007438:Introns; D051741:Kruppel-Like Transcription Factors; D060588:LIM Domain Proteins; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D013548:Sweden; D014157:Transcription Factors / Q000235:genetics*; D014158:Transcription, Genetic; D016335:Zinc Fingers
chemical_list: D017931:DNA Primers; D018076:DNA, Complementary; D005819:Genetic Markers; D018398:Homeodomain Proteins; C436492:KLF12 protein, human; D051741:Kruppel-Like Transcription Factors; D060588:LIM Domain Proteins; C116184:LMO7 protein, human; D014157:Transcription Factors