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High allele loss rates at 17q12-q21 in breast and ovarian tumors from BRCA1-linked families

Item Type:Article
Title:High allele loss rates at 17q12-q21 in breast and ovarian tumors from BRCA1-linked families
Creators Name:Cornelis, R.S. and Neuhausen, S.L. and Johansson, O. and Arason, A. and Kelsell, D. and Ponder, B.A.J. and Tonin, P. and Hamann, U. and Lindblom, A. and Lalle, P. and Longy, M. and Olah, E. and Scherneck, S. and Bignon, Y.J. and Sobol, H. and Chang-Claude, J. and Larsson, C. and Spurr, N. and Borg, A. and Barkardottir, R.B. and Narod, S. and Devilee, P.
Abstract:Loss of heterozygosity (LOH) was evaluated in 174 breast and ovarian tumors derived from 94 families with at least 3 first-degree relatives affected with either of these cancers. By linkage analysis 26 families were identified as having a high posterior probability of being due to BRCAl (the breast/ovarian cancer susceptibility locus on 17q12-21) with lod scores varying from 0.51 to 9.49. Tumor genotypes were determined at at least 2 constitutionally heterozygous markers flanking BRCAl in a total of 58 tumors from these families. These tumors were derived from 52 patients, the BRCAl mutation carrier status of which was evidenced by DNA sequencing in 20, and inferred by reconstructing haplotypes in the remainder. LOH was detected in 50 (86%) tumors, and invariably involved the wild-type allele. Where informative, this allele was of paternal origin in 33 cases and of maternal origin in 10 cases. These results strongly suggest that BRCAl is a tumor suppressor gene and that LOH is greatly favored to fully inactivate it.
Keywords:Alleles, BRCA1 Protein, Breast Neoplasms, Chromosome Mapping, Human, Pair 17 Chromosomes, Heterozygote, Linkage (Genetics), Lod Score, Mutation, Neoplasm Proteins, Ovarian Neoplasms, Pedigree, Transcription Factors
Source:Genes Chromosomes & Cancer
ISSN:1045-2257
Publisher:Wiley (U.S.A.)
Volume:13
Number:3
Page Range:203-210
Date:1 July 1995
Official Publication:https://doi.org/10.1002/gcc.2870130310
PubMed:View item in PubMed

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