The DOI matches its Crossref record; 12 of the 12 references it cites were found in a registry or an index.
Germline mutations in RAD51D confer susceptibility to ovarian cancer
Open accessAbstract
Recently, RAD51C mutations were identified in families with breast and ovarian cancer. This observation prompted us to investigate the role of RAD51D in cancer susceptibility. We identified eight inactivating RAD51D mutations in unrelated individuals from 911 breast-ovarian cancer families compared with one inactivating mutation identified in 1,060 controls (P = 0.01). The association found here was principally with ovarian cancer, with three mutations identified in the 59 pedigrees with three or more individuals with ovarian cancer (P = 0.0005). The relative risk of ovarian cancer for RAD51D mutation carriers was estimated to be 6.30 (95% CI 2.86–13.85, P = 4.8 × 10−6). By contrast, we estimated the relative risk of breast cancer to be 1.32 (95% CI 0.59–2.96, P = 0.50). These data indicate that RAD51D mutation testing may have clinical utility in individuals with ovarian cancer and their families. Moreover, we show that cells deficient in RAD51D are sensitive to treatment with a PARP inhibitor, suggesting a possible therapeutic approach for cancers arising in RAD51D mutation carriers.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Targeting the DNA repair defect in BRCA mutant cells as a therapeutic strategy
Farmer, H., McCabe, N., Lord, C. J., Tutt, A. N. J., Johnson, D. A., Richardson, T. B., Santarosa, M., Dillon, K. J., Hickson, I., Knights, C., et al. (2005) · Nature · doi:10.1038/nature03445 · Cited by 6,683
Self-citationAntoniou, A., Pharoah, P. D. P., Narod, S., Risch, H. A., Eyfjord, J. E., Hopper, J. L., Loman, N., Olsson, H., Johannsson, O., Borg, Å., et al. (2003) · The American Journal of Human Genetics · doi:10.1086/375033 · Cited by 3,680
Self-citationInhibition of Poly(ADP-Ribose) Polymerase in Tumors from BRCA Mutation Carriers
Fong, P. C., Boss, D. S., Yap, T. A., Tutt, A., Wu, P., Mergui-Roelvink, M., Mortimer, P., Swaisland, H., Lau, A., O'Connor, M. J., et al. (2009) · New England Journal of Medicine · doi:10.1056/nejmoa0900212 · Cited by 3,634
Self-citationA census of human cancer genes
Futreal, P. A., Coin, L., Marshall, M., Down, T., Hubbard, T., Wooster, R., Rahman, N., & Stratton, M. R. (2004) · Nature Reviews Cancer · doi:10.1038/nrc1299 · Cited by 3,184
Self-citationBiallelic Inactivation of BRCA2 in Fanconi Anemia
Howlett, N. G., Taniguchi, T., Olson, S., Cox, B., Waisfisz, Q., de Die-Smulders, C., Persky, N., Grompe, M., Joenje, H., Pals, G., et al. (2002) · Science · doi:10.1126/science.1073834 · Cited by 1,149
The CHEK2-Breast Cancer Consortium (2002) · Nature Genetics · doi:10.1038/ng879 · Cited by 1,104
Regulation of Homologous Recombination in Eukaryotes
Heyer, W.-D., Ehmsen, K. T., & Liu, J. (2010) · Annual Review of Genetics · doi:10.1146/annurev-genet-051710-150955 · Cited by 1,066
The 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
Self-citationBiallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer
Reid, S., Schindler, D., Hanenberg, H., Barker, K., Hanks, S., Kalb, R., Neveling, K., Kelly, P., Seal, S., Freund, M., et al. (2007) · Nature Genetics · doi:10.1038/ng1947 · Cited by 642
Self-citationThe DNA helicase BRIP1 is defective in Fanconi anemia complementation group J
Levitus, M., Waisfisz, Q., Godthelp, B. C., Vries, Y. D., Hussain, S., Wiegant, W. W., Elghalbzouri-Maghrani, E., Steltenpool, J., Rooimans, M. A., Pals, G., et al. (2005) · Nature Genetics · doi:10.1038/ng1625 · Cited by 432
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
Self-citationGeyer, F. C., Weigelt, B., Natrajan, R., Lambros, M. B., de Biase, D., Vatcheva, R., Savage, K., Mackay, A., Ashworth, A., & Reis‐Filho, J. S. (2010) · The Journal of Pathology · doi:10.1002/path.2675 · Cited by 233
Self-citation
Cited by
Rethinking 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
Pennington, K. P., Walsh, T., Harrell, M. I., Lee, M. K., Pennil, C. C., Rendi, M. H., Thornton, A., Norquist, B. M., Casadei, S., Nord, A. S., et al. (2014) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-13-2287 · Cited by 1,051
Homologous Recombination Deficiency: Exploiting the Fundamental Vulnerability of Ovarian Cancer
Konstantinopoulos, P. A., Ceccaldi, R., Shapiro, G. I., & D'Andrea, A. D. (2015) · Cancer Discovery · doi:10.1158/2159-8290.cd-15-0714 · Cited by 945
Walsh, T., Casadei, S., Lee, M. K., Pennil, C. C., Nord, A. S., Thornton, A. M., Roeb, W., Agnew, K. J., Stray, S. M., Wickramanayake, A., et al. (2011) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1115052108 · Cited by 933
Homologous Recombination and Human Health: The Roles of BRCA1, BRCA2, and Associated Proteins
Prakash, R., Zhang, Y., Feng, W., & Jasin, M. (2015) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a016600 · Cited by 869
Metadata
- Authors
- Breast Cancer Susceptibility Collaboration (UK), Loveday, C., Turnbull, C., Ramsay, E., Hughes, D., Ruark, E., Frankum, J. R., Bowden, G., Kalmyrzaev, B., Warren-Perry, M., Snape, K., Adlard, J. W., Barwell, J., Berg, J., Brady, A. F., Brewer, C., Brice, G., Chapman, C., Cook, J., Davidson, R., Donaldson, A., Douglas, F., Greenhalgh, L., Henderson, A., Izatt, L., Kumar, A., Lalloo, F., Miedzybrodzka, Z., Morrison, P. J., Paterson, J., Porteous, M., Rogers, M. T., Shanley, S., Walker, L., Eccles, D., Evans, D. G., Renwick, A., Seal, S., Lord, C. J., Ashworth, A., Reis-Filho, J. S., Antoniou, A. C., & Rahman, N.
- Venue
- Nature Genetics
- Published
- 2011-08-07
- Volume
- 43
- Issue
- 9
- Pages
- 879-882
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2135195813
- Cited by
- 534
- References
- 12
- FWCI
- 19.55
- Type
- journal article
- Language
- en
- Open access
- green
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
