The DOI matches its Crossref record; 5 of the 5 references it cites were found in a registry or an index.
RAD51B in Familial Breast Cancer
Open accessAbstract
Common variation on 14q24.1, close to RAD51B, has been associated with breast cancer: rs999737 and rs2588809 with the risk of female breast cancer and rs1314913 with the risk of male breast cancer. The aim of this study was to investigate the role of RAD51B variants in breast cancer predisposition, particularly in the context of familial breast cancer in Finland. We sequenced the coding region of RAD51B in 168 Finnish breast cancer patients from the Helsinki region for identification of possible recurrent founder mutations. In addition, we studied the known rs999737, rs2588809, and rs1314913 SNPs and RAD51B haplotypes in 44,791 breast cancer cases and 43,583 controls from 40 studies participating in the Breast Cancer Association Consortium (BCAC) that were genotyped on a custom chip (iCOGS). We identified one putatively pathogenic missense mutation c.541C>T among the Finnish cancer patients and subsequently genotyped the mutation in additional breast cancer cases (n = 5259) and population controls (n = 3586) from Finland and Belarus. No significant association with breast cancer risk was seen in the meta-analysis of the Finnish datasets or in the large BCAC dataset. The association with previously identified risk variants rs999737, rs2588809, and rs1314913 was replicated among all breast cancer cases and also among familial cases in the BCAC dataset. The most significant association was observed for the haplotype carrying the risk-alleles of all the three SNPs both among all cases (odds ratio (OR): 1.15, 95% confidence interval (CI): 1.11-1.19, P = 8.88 x 10-16) and among familial cases (OR: 1.24, 95% CI: 1.16-1.32, P = 6.19 x 10-11), compared to the haplotype with the respective protective alleles. Our results suggest that loss-of-function mutations in RAD51B are rare, but common variation at the RAD51B region is significantly associated with familial breast cancer risk.
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Cites
MutationTaster evaluates disease-causing potential of sequence alterations
Schwarz, J. M., Rödelsperger, C., Schuelke, M., & Seelow, D. (2010) · Nature Methods · doi:10.1038/nmeth0810-575 · Cited by 2,975
LocusZoom: regional visualization of genome-wide association scan results
Pruim, R. J., Welch, R. P., Sanna, S., Teslovich, T. M., Chines, P. S., Gliedt, T. P., Boehnke, M., Abecasis, G. R., & Willer, C. J. (2010) · Bioinformatics · doi:10.1093/bioinformatics/btq419 · Cited by 2,707
The emerging landscape of breast cancer susceptibility
Stratton, M. R., & Rahman, N. (2008) · Nature Genetics · doi:10.1038/ng.2007.53 · Cited by 487
Mutation of the RAD51C gene in a Fanconi anemia–like disorder
Vaz, F., Hanenberg, H., Schuster, B., Barker, K., Wiek, C., Erven, V., Neveling, K., Endt, D., Kesterton, I., Autore, F., et al. (2010) · Nature Genetics · doi:10.1038/ng.570 · Cited by 408 · cited 1×
“Rare pathogenic mutations in RAD51 paralogs RAD51C and RAD51D have been identified in breast and ovarian cancer families and confer a high risk specifically for ovarian cancer [5–7] whereas a homozygous missense mutation in RAD51C (FANCO) was found in a Fanconi anemia patient [8].”
BackgroundChun, J., Buechelmaier, E. S., & Powell, S. N. (2013) · Molecular and Cellular Biology · doi:10.1128/mcb.00465-12 · Cited by 207
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Metadata
- Authors
- Pelttari, L. M., Khan, S., Vuorela, M., Kiiski, J. I., Vilske, S., Nevanlinna, V., Ranta, S., Schleutker, J., Winqvist, R., Kallioniemi, A., Dörk, T., Bogdanova, N. V., Figueroa, J., Pharoah, P. D. P., Schmidt, M. K., Dunning, A. M., García-Closas, M., Bolla, M. K., Dennis, J., Michailidou, K., Wang, Q., Hopper, J. L., Southey, M. C., Rosenberg, E. H., Fasching, P. A., Beckmann, M. W., Peto, J., dos-Santos-Silva, I., Sawyer, E. J., Tomlinson, I., Burwinkel, B., Surowy, H., Guénel, P., Truong, T., Bojesen, S. E., Nordestgaard, B. G., Benitez, J., González-Neira, A., Neuhausen, S. L., Anton-Culver, H., Brenner, H., Arndt, V., Meindl, A., Schmutzler, R. K., Brauch, H., Brüning, T., Lindblom, A., Margolin, S., Mannermaa, A., Hartikainen, J. M., Chenevix-Trench, G., kConFab/AOCS Investigators, Van Dyck, L., Janssen, H., Chang-Claude, J., Rudolph, A., Radice, P., Peterlongo, P., Hallberg, E., Olson, J. E., Giles, G. G., Milne, R. L., Haiman, C. A., Schumacher, F., Simard, J., Dumont, M., Kristensen, V., Borresen-Dale, A.-L., Zheng, W., Beeghly-Fadiel, A., Grip, M., Andrulis, I. L., Glendon, G., Devilee, P., Seynaeve, C., Hooning, M. J., Collée, M., Cox, A., Cross, S. S., Shah, M., Luben, R. N., Hamann, U., Torres, D., Jakubowska, A., Lubinski, J., Couch, F. J., Yannoukakos, D., Orr, N., Swerdlow, A., Darabi, H., Li, J., Czene, K., Hall, P., Easton, D. F., Mattson, J., Blomqvist, C., Aittomäki, K., & Nevanlinna, H.
- Venue
- PLOS ONE
- Publisher
- Public Library of Science (PLoS)
- Published
- 2016-05-05
- Volume
- 11
- Issue
- 5
- Pages
- e0153788
- ISSN
- 1932-6203 (ISSN-L)
- OpenAlex
- W2345599686
- Cited by
- 669
- References
- 5
- FWCI
- 79.50
- Type
- journal article
- Language
- en
- Open access
- gold
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- Pelttari, L. M., Khan, S., Vuorela, M., Kiiski, J. I., Vilske, S., Nevanlinna, V., Ranta, S., Schleutker, J., Winqvist, R., Kallioniemi, A., Dörk, T., Bogdanova, N. V., Figueroa, J., Pharoah, P. D. P., Schmidt, M. K., Dunning, A. M., García-Closas, M., Bolla, M. K., Dennis, J., . . . Nevanlinna, H. (2016). RAD51B in Familial Breast Cancer. PLOS ONE. https://doi.org/10.1371/journal.pone.0153788
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