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

✍ Scribed by 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

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 261 KB
Volume: 27
Category: Article
ISSN: 1045-2257
DOI: 10.1002/(sici)1098-2264(200003)27:3<295::aid-gcc10>3.0.co;2-f

No coin nor oath required. For personal study only.

✦ Synopsis

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 tumours 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 BRCA1 inactivation through changes in the primary genomic sequence of the gene is uncommon in breast cancer.

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