title: High-resolution integrated map encompassing the breast cancer loss of heterozygosity region on human chromosome 16q22.1.
abstract: Loss of heterozygosity (LOH) on the long arm of human chromosome 16 is a common genetic alteration observed in both invasive ductal and invasive lobular breast carcinomas. We have generated a high-resolution integrated map encompassing the smallest region of LOH overlap within chromosome 16q22.1 (SRO2). Southern hybridization experiments using more than 140 probes resulted in the assembly of 152 bacterial large-insert clones into a 2.8-Mb contig covering SRO2. The structure of the contig was verified by long-range mapping using total human genomic DNA, and the contig orientation was determined by fluorescence in situ hybridization. A total of 68 transcripts have been identified in the map. One of the genes residing within SRO2 is the E-cadherin gene, CDH1, which has previously been shown to be mutated in lobular breast carcinomas, resulting in loss of E-cadherin expression. In most cases of ductal carcinoma, which is the major mammary cancer type, E-cadherin is normally expressed, suggesting that other genes within 16q22.1 are involved in the development of this tumor subtype. The high-resolution map presented in this study provides a valuable resource for identification of tumor suppressor genes expected to be involved in the etiology of breast carcinomas.
authors.affiliation: The Biotechnology Centre of Oslo, University of Oslo, Oslo, Norway.
authors.forename: E
authors.initials: E
authors.lastname: Frengen
authors.forename: P
authors.initials: P
authors.lastname: Rocca-Serra
authors.forename: S
authors.initials: S
authors.lastname: Shaposhnikov
authors.forename: L
authors.initials: L
authors.lastname: Taine
authors.forename: J
authors.initials: J
authors.lastname: Thorsen
authors.forename: C
authors.initials: C
authors.lastname: Bepoldin
authors.forename: M
authors.initials: M
authors.lastname: Krekling
authors.forename: D
authors.initials: D
authors.lastname: Lafon
authors.forename: K K
authors.initials: KK
authors.lastname: Aas
authors.forename: A A
authors.initials: AA
authors.lastname: El Monéim
authors.forename: H
authors.initials: H
authors.lastname: Johansen
authors.forename: M
authors.initials: M
authors.lastname: Longy
authors.forename: H
authors.initials: H
authors.lastname: Prydz
authors.forename: F
authors.initials: F
authors.lastname: Dorion-Bonnet
mesh_terms: D001943:Breast Neoplasms / Q000235:genetics*; D002885:Chromosomes, Human, Pair 16; D016147:Genes, Tumor Suppressor; D005819:Genetic Markers; D006801:Humans; D019656:Loss of Heterozygosity; D018895:Microsatellite Repeats / Q000235:genetics; D008969:Molecular Sequence Data; D020161:Physical Chromosome Mapping; D016133:Polymerase Chain Reaction; D015183:Restriction Mapping
chemical_list: D005819:Genetic Markers