DNA array-based method for detection of large rearrangements in theBRCA1 gene
| العنوان: | DNA array-based method for detection of large rearrangements in theBRCA1 gene |
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| المؤلفون: | Hong Wu, Andrew K. Godwin, Andrey Frolov, Betsy Bove, Lisa Vanderveer, Amanda H. Prowse |
| المصدر: | Genes, Chromosomes and Cancer. 35:232-241 |
| بيانات النشر: | Wiley, 2002. |
| سنة النشر: | 2002 |
| مصطلحات موضوعية: | Adult, Cancer Research, endocrine system diseases, DNA Mutational Analysis, Genes, BRCA1, Biology, Germline, Frameshift mutation, Loss of heterozygosity, Exon, Tumor Cells, Cultured, Genetics, Humans, skin and connective tissue diseases, Gene, Aged, Oligonucleotide Array Sequence Analysis, Gene Rearrangement, Ovarian Neoplasms, BRCA1 Protein, DNA, Neoplasm, Exons, Middle Aged, Molecular biology, genomic DNA, Female, DNA microarray, HeLa Cells |
| الوصف: | 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. |
| تدمد: | 1098-2264 1045-2257 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4b642355047a2ba440635091268963a https://doi.org/10.1002/gcc.10109 |
| حقوق: | CLOSED |
| رقم الأكسشن: | edsair.doi.dedup.....d4b642355047a2ba440635091268963a |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 10982264 10452257 |
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