✦ LIBER ✦

DNA array-based method for detection of large rearrangements in the BRCA1 gene

✍ Scribed by Andrey Frolov; Amanda H. Prowse; Lisa Vanderveer; Betsy Bove; Hong Wu; Andrew K. Godwin

Publisher: John Wiley and Sons
Year: 2002
Tongue: English
Weight: 200 KB
Volume: 35
Category: Article
ISSN: 1045-2257
DOI: 10.1002/gcc.10109

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

In most families with multiple cases of breast and ovarian cancer, the cancer appears to be associated with germline alterations in BRCA1 or BRCA2. However, somatic mutations in BRCA1 and BRCA2 in sporadic breast and ovarian tumors are rare, even though loss of heterozygosity in BRCA1 and BRCA2 loci in these tumors appears frequently. This may be attributed to mutation detection assays that detect alterations in the coding regions and splice site junctions, but that miss large gene rearrangements. To look specifically for mutations such as large gene rearrangements that span several kilobases (kb) of genomic DNA, we have developed a fluorescence DNA microarray assay. This assay rapidly and simultaneously screens for such rearrangements along the entire gene. In our screen of 15 malignant ovarian tumors, we found one sample with a novel 3‐kb deletion encompassing exon 17 of BRCA1 that leads to a frameshift mutation. This deletion was not detected in the corresponding constitutive DNA. Our results indicate that, whereas somatic mutations in BRCA1 appear to be rare in ovarian cancers, the search for large gene rearrangements should be included in any BRCA1 mutational analysis. Furthermore, the method described in this report has the potential to screen clinical tumor samples for genomic rearrangements simultaneously in a large number of cancer‐associated genes. © 2002 Wiley‐Liss, Inc.

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