A sporadic breast tumor with a somatically acquired complex genomic rearrangement in BRCA1

Marco Van Der Looij, Anne Marie Cleton-Jansen, Ronald Van Eijk, Hans Morreau, Margreethe Van Vliet, Nel Kuipers-Dijkshoorn, Edith Oláh, Cees J. Cornelisse, Peter Devilee

Research output: Contribution to journalArticle

28 Citations (Scopus)

Abstract

Germ-line mutations in BRCA1 cause a substantial proportion of inherited breast cancer, and most result in inactivated BRCA1 proteins upon translation. Tumours developing in BRCA1 mutation carriers generally show loss of the wild-type allele. However, acquired inactivating mutations in BRCA1 in non-inherited breast turnouts showing loss of heterozygosity at the gene locus have not been detected so far. Here we provide evidence that such mutations can be detected in a small proportion of breast tumours. Prompted by recent reports of Alu-mediated large genomic rearrangements in BRCA1, we have investigated whether such rearrangements might occur in sporadic breast cancer as well and have been missed thus far by traditional PCR-based mutation screening technology. To this end, we performed Southern blot analysis of 81 apparently sporadic breast tumours using probes covering exons 6-24 and 3 restriction enzymes. We identified 1 case with an acquired rearrangement (1.2%), indicating that BRCA 1 inactivation through changes in the primary genomic sequence of the gene is uncommon in breast cancer.

Original languageEnglish
Pages (from-to)295-302
Number of pages8
JournalGenes Chromosomes and Cancer
Volume27
Issue number3
DOIs
Publication statusPublished - Mar 1 2000

ASJC Scopus subject areas

  • Genetics
  • Cancer Research

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    Van Der Looij, M., Cleton-Jansen, A. M., Van Eijk, R., Morreau, H., Van Vliet, M., Kuipers-Dijkshoorn, N., Oláh, E., Cornelisse, C. J., & Devilee, P. (2000). A sporadic breast tumor with a somatically acquired complex genomic rearrangement in BRCA1. Genes Chromosomes and Cancer, 27(3), 295-302. https://doi.org/10.1002/(SICI)1098-2264(200003)27:3<295::AID-GCC10>3.0.CO;2-F