The DOI matches its Crossref record; 6 of the 6 references it cites were found in a registry or an index.
Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing
Open accessAbstract
Inherited loss-of-function mutations in the tumor suppressor genes BRCA1 , BRCA2 , and multiple other genes predispose to high risks of breast and/or ovarian cancer. Cancer-associated inherited mutations in these genes are collectively quite common, but individually rare or even private. Genetic testing for BRCA1 and BRCA2 mutations has become an integral part of clinical practice, but testing is generally limited to these two genes and to women with severe family histories of breast or ovarian cancer. To determine whether massively parallel, “next-generation” sequencing would enable accurate, thorough, and cost-effective identification of inherited mutations for breast and ovarian cancer, we developed a genomic assay to capture, sequence, and detect all mutations in 21 genes, including BRCA1 and BRCA2 , with inherited mutations that predispose to breast or ovarian cancer. Constitutional genomic DNA from subjects with known inherited mutations, ranging in size from 1 to >100,000 bp, was hybridized to custom oligonucleotides and then sequenced using a genome analyzer. Analysis was carried out blind to the mutation in each sample. Average coverage was >1200 reads per base pair. After filtering sequences for quality and number of reads, all single-nucleotide substitutions, small insertion and deletion mutations, and large genomic duplications and deletions were detected. There were zero false-positive calls of nonsense mutations, frameshift mutations, or genomic rearrangements for any gene in any of the test samples. This approach enables widespread genetic testing and personalized risk assessment for breast and ovarian cancer.
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Cites
Targeting the DNA repair defect in BRCA mutant cells as a therapeutic strategy
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Specific killing of BRCA2-deficient tumours with inhibitors of poly(ADP-ribose) polymerase
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“, p53_721G > A) (18), we also compared all variants to gene-specific mutation databases.”
ResultThe Breast Cancer Susceptibility Collaboration (UK), Seal, S., Thompson, D., Renwick, A., Elliott, A., Kelly, P., Barfoot, R., Chagtai, T., Jayatilake, H., Ahmed, M., et al. (2006) · Nature Genetics · doi:10.1038/ng1902 · Cited by 746
Ten Genes for Inherited Breast Cancer
Walsh, T., & King, M.-C. (2007) · Cancer Cell · doi:10.1016/j.ccr.2007.01.010 · Cited by 477
Self-citationA standardized framework for the validation and verification of clinical molecular genetic tests
for the EuroGentest Validation Group, Mattocks, C. J., Morris, M. A., Matthijs, G., Swinnen, E., Corveleyn, A., Dequeker, E., Müller, C. R., Pratt, V., & Wallace, A. (2010) · European Journal of Human Genetics · doi:10.1038/ejhg.2010.101 · Cited by 205
Cited by
Nishimura, R., Osako, T., Nishiyama, Y., Tashima, R., Nakano, M., Fujisue, M., Toyozumi, Y., & Arima, N. (2013) · Oncology · doi:10.1159/000353099 · Cited by 13,166
Comprehensive molecular portraits of human breast tumours
The Cancer Genome Atlas Network (2012) · Nature · doi:10.1038/nature11412 · Cited by 12,129
Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer
Pritchard, C. C., Mateo, J., Walsh, M. F., De Sarkar, N., Abida, W., Beltran, H., Garofalo, A., Gulati, R., Carreira, S., Eeles, R., et al. (2016) · New England Journal of Medicine · doi:10.1056/nejmoa1603144 · Cited by 1,680
Self-citationRethinking ovarian cancer II: reducing mortality from high-grade serous ovarian cancer
Bowtell, D. D., Böhm, S., Ahmed, A. A., Aspuria, P.-J., Bast, R. C., Beral, V., Berek, J. S., Birrer, M. J., Blagden, S., Bookman, M. A., et al. (2015) · Nature Reviews Cancer · doi:10.1038/nrc4019 · Cited by 1,367
Swisher, E. M., Lin, K. K., Oza, A. M., Scott, C. L., Giordano, H., Sun, J., Konecny, G. E., Coleman, R. L., Tinker, A. V., O'Malley, D. M., et al. (2017) · The Lancet Oncology · doi:10.1016/s1470-2045(16)30559-9 · Cited by 1,196
Self-citation
Metadata
- Authors
- Walsh, T., Lee, M. K., Casadei, S., Thornton, A. M., Stray, S. M., Pennil, C., Nord, A. S., Mandell, J. B., Swisher, E. M., & King, M.-C.
- Venue
- Proceedings of the National Academy of Sciences
- Published
- 2010-06-28
- Volume
- 107
- Issue
- 28
- Pages
- 12629-12633
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- OpenAlex
- W2106542343
- Cited by
- 487
- References
- 6
- FWCI
- 21.79
- Type
- journal article
- Language
- en
- Open access
- green
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- Walsh, T., Lee, M. K., Casadei, S., Thornton, A. M., Stray, S. M., Pennil, C., Nord, A. S., Mandell, J. B., Swisher, E. M., & King, M.-C. (2010). Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing. Proceedings of the National Academy of Sciences. https://doi.org/10.1073/pnas.1007983107
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