The DOI matches its Crossref record; 8 of the 8 references it cites were found in a registry or an index.
Germline SDHB Mutations and Familial Renal Cell Carcinoma
Open accessAbstract
Familial renal cell carcinoma (RCC) is a heterogeneous disorder that is most commonly caused by germline mutations in the VHL, MET, and FLCN genes or by constitutional chromosome 3 translocations. However, for many patients with familial RCC, the genetic basis of the disease is undefined. We investigated whether germline mutations in fumarate hydratase (FH) or succinate dehydrogenase subunit genes (SDHB, SDHC, SDHD) were associated with RCC susceptibility in 68 patients with no clinical evidence of an RCC susceptibility syndrome. No mutations in FH, SDHC, or SDHD were identified in probands, but 3 of the 68 (4.4%) probands had a germline SDHB mutation. Patients with a germline SDHB mutation presented with familial RCC (n = 1) or bilateral RCC (n = 2) and no personal or family history of pheochromocytoma or head and neck paraganglioma. Age at diagnosis of RCC in SDHB mutation carriers ranged from 24 to 73 years. These findings 1) demonstrate that patients with suspected inherited RCC should be examined for germline SDHB mutations, 2) suggest that all identified SDHB mutation carriers should be offered surveillance for RCC, and 3) provide a further link between familial RCC and activation of hypoxic-gene response pathways.
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Cites
Mutations in SDHD , a Mitochondrial Complex II Gene, in Hereditary Paraganglioma
Baysal, B. E., Ferrell, R. E., Willett-Brozick, J. E., Lawrence, E. C., Myssiorek, D., Bosch, A., Mey, A. V. D., Taschner, P. E. M., Rubinstein, W. S., Myers, E. N., et al. (2000) · Science · doi:10.1126/science.287.5454.848 · Cited by 1,638
The Multiple Leiomyoma Consortium (2002) · Nature Genetics · doi:10.1038/ng849 · Cited by 1,635
Astuti, D., Latif, F., Dallol, A., Dahia, P. L. M., Douglas, F., George, E., Sköldberg, F., Husebye, E. S., Eng, C., & Maher, E. R. (2001) · The American Journal of Human Genetics · doi:10.1086/321282 · Cited by 1,087
Self-citationNeumann, H. P. H. (2004) · JAMA · doi:10.1001/jama.292.8.943 · Cited by 893
Inhibition of HIF2α Is Sufficient to Suppress pVHL-Defective Tumor Growth
Kondo, K., Kim, W. Y., Lechpammer, M., & Kaelin, W. G. (2003) · PLoS Biology · doi:10.1371/journal.pbio.0000083 · Cited by 611
Vanharanta, S., Buchta, M., McWhinney, S. R., Virta, S. K., Peçzkowska, M., Morrison, C. D., Lehtonen, R., Januszewicz, A., Järvinen, H., Juhola, M., et al. (2004) · The American Journal of Human Genetics · doi:10.1086/381054 · Cited by 389
Clifford, S. C. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.10.1029 · Cited by 373
Functional Consequences of a SDHB Gene Mutation in an Apparently Sporadic Pheochromocytoma
Gimenez-Roqueplo, A.-P., Favier, J., Rustin, P., Rieubland, C., Kerlan, V., Plouin, P.-F., Rötig, A., & Jeunemaitre, X. (2002) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2002-020525 · Cited by 209
Cited by
Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline
Lenders, J. W. M., Duh, Q.-Y., Eisenhofer, G., Gimenez-Roqueplo, A.-P., Grebe, S. K. G., Murad, M. H., Naruse, M., Pacak, K., & Young, W. F. (2014) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2014-1498 · Cited by 2,827
SIRT5-mediated lysine desuccinylation impacts diverse metabolic pathways
Park, J., Chen, Y., Tishkoff, D. X., Peng, C., Tan, M., Dai, L., Xie, Z., Zhang, Y., Zwaans, B. M. M., Skinner, M. E., et al. (2013) · Molecular Cell · doi:10.1016/j.molcel.2013.06.001 · Cited by 1,000
SDH mutations establish a hypermethylator phenotype in paraganglioma
Letouzé, E., Martinelli, C., Loriot, C., Burnichon, N., Abermil, N., Ottolenghi, C., Janin, M., Menara, M., Nguyen, A. T., Benit, P., et al. (2013) · Cancer Cell · doi:10.1016/j.ccr.2013.04.018 · Cited by 776
SDH5 , a Gene Required for Flavination of Succinate Dehydrogenase, Is Mutated in Paraganglioma
Hao, H.-X., Khalimonchuk, O., Schraders, M., Dephoure, N., Bayley, J.-P., Kunst, H., Devilee, P., Cremers, C. W. R. J., Schiffman, J. D., Bentz, B. G., et al. (2009) · Science · doi:10.1126/science.1175689 · Cited by 702
van Nederveen, F. H., Gaal, J., Favier, J., Korpershoek, E., Oldenburg, R. A., de Bruyn, E. M., Sleddens, H. F., Derkx, P., Rivière, J., Dannenberg, H., et al. (2009) · The Lancet Oncology · doi:10.1016/s1470-2045(09)70164-0 · Cited by 538
Self-citation
Metadata
- Authors
- Ricketts, C., Woodward, E. R., Killick, P., Morris, M. R., Astuti, D., Latif, F., & Maher, E. R.
- Venue
- JNCI Journal of the National Cancer Institute
- Publisher
- Oxford University Press (OUP)
- Published
- 2008-08-26
- Volume
- 100
- Issue
- 17
- Pages
- 1260-1262
- ISSN
- 0027-8874 (ISSN-L)
- 1460-2105
- OpenAlex
- W2122372918
- Cited by
- 342
- References
- 8
- FWCI
- 17.25
- Type
- journal article
- Language
- en
- Open access
- bronze
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