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Mutations of the SLX4 gene in Fanconi anemia
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“These four genes have been linked to cancer, including hematologic malignancy when present as homozygous or compound heterozygous state previously41–44, but not in heterozygous PGV carriers.”
From Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy (2025) · cites this paper as [42]
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Citations
Cites
Interaction of the Fanconi Anemia Proteins and BRCA1 in a Common Pathway
Garcia-Higuera, I., Taniguchi, T., Ganesan, S., Meyn, M. S., Timmers, C., Hejna, J., Grompe, M., & D'Andrea, A. D. (2001) · Molecular Cell · doi:10.1016/s1097-2765(01)00173-3 · Cited by 1,198
Biallelic 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 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
Fanconi anemia is associated with a defect in the BRCA2 partner PALB2
Xia, B., Dorsman, J. C., Ameziane, N., de Vries, Y., Rooimans, M. A., Sheng, Q., Pals, G., Errami, A., Gluckman, E., Llera, J., et al. (2007) · Nature Genetics · doi:10.1038/ng1942 · Cited by 465
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×
“Recently, RAD51C, also involved in HR repair, has been found to be mutated in three patients with an FA-like disorder 15 .”
Self-citation
Research works printed but not linked: 21
- Auerbach, A.D. Fanconi anemia and its diagnosis. Mutat. Res. 668, 4–10 (2009). · DOI
- Auerbach, A.D. & Wolman, S.R. Susceptibility of Fanconi′s anaemia fibroblasts to chromosome damage by carcinogens. Nature 261, 494–496 (1976). · DOI
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- Knipscheer, P. et al. The Fanconi anemia pathway promotes replication-dependent DNA interstrand cross-link repair. Science 326, 1698–1701 (2009). · DOI
- Fekairi, S. et al. Human SLX4 is a Holliday junction resolvase subunit that binds multiple DNA repair/recombination endonucleases. Cell 138, 78–89 (2009). · DOI
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Cited by
DNA Damage Response: Three Levels of DNA Repair Regulation
Sirbu, B. M., & Cortez, D. (2013) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a012724 · Cited by 272
Physiological consequences of defects in ERCC1–XPF DNA repair endonuclease
Gregg, S. Q., Robinson, A. R., & Niedernhofer, L. J. (2011) · DNA Repair · doi:10.1016/j.dnarep.2011.04.026 · Cited by 175
Mechanisms of interstrand DNA crosslink repair and human disorders
Hashimoto, S., Anai, H., & Hanada, K. (2016) · Genes and Environment · doi:10.1186/s41021-016-0037-9 · Cited by 140
Pathways for repairing and tolerating the spectrum of oxidative DNA lesions
Berquist, B. R., & Wilson, D. M. (2012) · Cancer Letters · doi:10.1016/j.canlet.2012.02.001 · Cited by 136
DNA repair mechanisms protect our genome from carcinogenesis
Moraes, M. C. S. (2012) · Frontiers in Bioscience · doi:10.2741/3992 · Cited by 64
Metadata
- Authors
- Kim, Y., Lach, F. P., Desetty, R., Hanenberg, H., Auerbach, A. D., & Smogorzewska, A.
- Venue
- Nature Genetics
- Published
- 2011-01-16
- Volume
- 43
- Issue
- 2
- Pages
- 142-146
- ISSN
- 1061-4036
- 1546-1718
- PMC
- PMC3345287
- Cited by
- 294
- References
- 5
- Language
- en
- Licence
- www.springer.com/tdm (tdm)
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- Kim, Y., Lach, F. P., Desetty, R., Hanenberg, H., Auerbach, A. D., & Smogorzewska, A. (2011). Mutations of the SLX4 gene in Fanconi anemia. Nature Genetics. https://doi.org/10.1038/ng.750
