Schroeder, Christopher and Stutzmann, Fanny and Weber, Bernhard H. F. and Riess, Olaf and Bonin, Michael (2010) High-throughput resequencing in the diagnosis of BRCA1/2 mutations using oligonucleotide resequencing microarrays. BREAST CANCER RESEARCH AND TREATMENT, 122 (1). pp. 287-297. ISSN 0167-6806,
Full text not available from this repository. (Request a copy)Abstract
Breast cancer is the most frequent form of carcinoma in European females (incidence 65 per 100,000). In about 10% of all cases, pedigree analysis predicts a hereditary breast-ovarian cancer syndrome (HBOC) to be causative for the disease. Frequently, mutations in two genes, BRCA1 (Chr. 17q21) and BRCA2 (Chr. 13q12), are associated with HBOC. In females, mutations in these genes result in a lifetime risk of 80-85% for breast cancer and 54% (BRCA1) or 23% (BRCA2) for ovarian cancer. Current genetic diagnostic tools for BRCA1 and BRCA2 remain laborious and expensive. Here, we present the first oligonucleotide resequencing microarray covering the complete coding sequence of both genes. In total, 36 previously characterized DNAs were resequenced; all 11 patients with single-nucleotide mutations and, due to a special mutational design, eight patients with heterozygous deletions were detected correctly. In total, 47 different single-nucleotide variants (SNVs) were found. A newly developed software, SeqC, reduced the number of ambiguous calls with the help of a statistical module comparing the acquired data to an online-database. SeqC improved the average call rate to 99% (GSeq: 97%) and reduced time and efforts for manual analysis. SeqC confirmed the results obtained by GSeq and found an additional 33 sequences changes representing 14 SNVs. In total, 945 kb were screened and the overall turnaround time for each patient took approximately 3 days, including analysis.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | HEREDITARY BREAST-CANCER; HYPERTROPHIC CARDIOMYOPATHY; PREDISPOSITION GENES; VARIANTS; GENETICS; ARRAYS; Oligonucleotide resequencing microarray; BRCA1; BRCA2; Breast cancer; Ovarian cancer; HBOC; HBC; HOC; SeqC |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Humangenetik |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 27 Jul 2020 08:09 |
| Last Modified: | 27 Jul 2020 08:09 |
| URI: | https://pred.uni-regensburg.de/id/eprint/24477 |
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