The DOI matches its Crossref record; 72 of the 72 references it cites were found in a registry or an index.
Clinical Evaluation of a Multiple-Gene Sequencing Panel for Hereditary Cancer Risk Assessment
Open accessAbstract
Purpose: Multiple-gene sequencing is entering practice, but its clinical value is unknown. We evaluated the performance of a customized germline-DNA sequencing panel for cancer-risk assessment in a representative clinical sample. Methods: Patients referred for clinical BRCA1/2 testing from 2002 to 2012 were invited to donate a research blood sample. Samples were frozen at −80° C, and DNA was extracted from them after 1 to 10 years. The entire coding region, exon-intron boundaries, and all known pathogenic variants in other regions were sequenced for 42 genes that had cancer risk associations. Potentially actionable results were disclosed to participants. Results: In total, 198 women participated in the study: 174 had breast cancer and 57 carried germline BRCA1/2 mutations. BRCA1/2 analysis was fully concordant with prior testing. Sixteen pathogenic variants were identified in ATM, BLM, CDH1, CDKN2A, MUTYH, MLH1, NBN, PRSS1, and SLX4 among 141 women without BRCA1/2 mutations. Fourteen participants carried 15 pathogenic variants, warranting a possible change in care; they were invited for targeted screening recommendations, enabling early detection and removal of a tubular adenoma by colonoscopy. Participants carried an average of 2.1 variants of uncertain significance among 42 genes. Conclusion: Among women testing negative for BRCA1/2 mutations, multiple-gene sequencing identified 16 potentially pathogenic mutations in other genes (11.4%; 95% CI, 7.0% to 17.7%), of which 15 (10.6%; 95% CI, 6.5% to 16.9%) prompted consideration of a change in care, enabling early detection of a precancerous colon polyp. Additional studies are required to quantify the penetrance of identified mutations and determine clinical utility. However, these results suggest that multiple-gene sequencing may benefit appropriately selected patients.
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Cites
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PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene
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Curigliano, G., Burstein, H. J., Winer, E. P., Gnant, M., Dubsky, P., Loibl, S., Colleoni, M., Regan, M. M., Piccart-Gebhart, M., Senn, H.-J., et al. (2017) · Annals of Oncology · doi:10.1093/annonc/mdx308 · Cited by 1,205
Robson, M. E., Bradbury, A. R., Arun, B., Domchek, S. M., Ford, J. M., Hampel, H. L., Lipkin, S. M., Syngal, S., Wollins, D. S., & Lindor, N. M. (2015) · Journal of Clinical Oncology · doi:10.1200/jco.2015.63.0996 · Cited by 934
Self-citationA decade of clinical development of PARP inhibitors in perspective
Mateo, J., Lord, C. J., Serra, V., Tutt, A., Balmaña, J., Castroviejo-Bermejo, M., Cruz, C., Oaknin, A., Kaye, S. B., & de Bono, J. S. (2019) · Annals of Oncology · doi:10.1093/annonc/mdz192 · Cited by 743
van der Post, R. S., Vogelaar, I. P., Carneiro, F., Guilford, P., Huntsman, D., Hoogerbrugge, N., Caldas, C., Chelcun Schreiber, K. E., Hardwick, R. H., Ausems, M. G. E. M., et al. (2015) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2015-103094 · Cited by 561
Self-citationGermline BRCA Mutations in a Large Clinic-Based Cohort of Patients With Pancreatic Adenocarcinoma
Holter, S., Borgida, A., Dodd, A., Grant, R., Semotiuk, K., Hedley, D., Dhani, N., Narod, S., Akbari, M., Moore, M., et al. (2015) · Journal of Clinical Oncology · doi:10.1200/jco.2014.59.7401 · Cited by 398
Metadata
- Authors
- Kurian, A. W., Hare, E. E., Mills, M. A., Kingham, K. E., McPherson, L., Whittemore, A. S., McGuire, V., Ladabaum, U., Kobayashi, Y., Lincoln, S. E., Cargill, M., & Ford, J. M.
- Venue
- Journal of Clinical Oncology
- Published
- 2014-07-01
- Volume
- 32
- Issue
- 19
- Pages
- 2001-2009
- ISSN
- 0732-183X (ISSN-L)
- 1527-7755
- OpenAlex
- W2095787833
- Cited by
- 485
- References
- 72
- FWCI
- 41.01
- Type
- journal article
- Language
- en
- Open access
- green
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