Abstract
Mutations in BRCA1 predispose to breast cancer. CTIP interacts with BRCA1 and so could also be associated with increased risk. We screened CTIP for germline mutations in 210 probands of breast cancer families including 129 families with no mutations in BRCA1 or BRCA2. No coding variants were detected in CTIP, therefore, it is unlikely to be involved in breast cancer risk.
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Easton DF (1999) How many more breast cancer predisposition genes are there? Breast Cancer Res 1:14–17
Rahman N, Seal S, Thompson D et al (2007) PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat Genet 39:165–167
Seal S, Thompson D, Renwick A et al (2006) Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. Nat Genet 38:1239–1241
Easton DF, Pooley KA, Dunning AM et al (2007) Genome-wide association study identifies novel breast cancer susceptibility loci. Nature 447:1087–1093
Wu G, Lee WH (2006) CtIP, a multivalent adaptor connecting transcriptional regulation, checkpoint control and tumor suppression. Cell Cycle 5:1592–1596
Furuta S, Wang JM, Wei S et al (2006) Removal of BRCA1/CtIP/ZBRK1 repressor complex on ANG1 promoter leads to accelerated mammary tumor growth contributed by prominent vasculature. Cancer cell 10:13–24
Li S, Chen PL, Subramanian T et al (1999) Binding of CtIP to the BRCT repeats of BRCA1 involved in the transcription regulation of p21 is disrupted upon DNA damage. J Biol Chem 274:11334–11338
Yu X, Wu LC, Bowcock AM et al (1998) The C-terminal (BRCT) domains of BRCA1 interact in vivo with CtIP, a protein implicated in the CtBP pathway of transcriptional repression. J Biol Chem 273:25388–25392
Yu X, Fu S, Lai M et al (2006) BRCA1 ubiquitinates its phosphorylation-dependent binding partner CtIP. Genes Dev 20:1721–1726
Sartori AA, Lukas C, Coates J et al (2007) Human CtIP promotes DNA end resection. Nature 450:509–514
Yu X, Chen J (2004) DNA damage-induced cell cycle checkpoint control requires CtIP, a phosphorylation-dependent binding partner of BRCA1 C-terminal domains. Mol Cell Biol 24:9478–9486
Chen PL, Liu F, Cai S et al (2005) Inactivation of CtIP leads to early embryonic lethality mediated by G1 restraint and to tumorigenesis by haploid insufficiency. Mol Cell Biol 25:3535–3542
Vilkki S, Launonen V, Karhu A et al (2002) Screening for microsatellite instability target genes in colorectal cancers. J Med Genet 39:785–789
Pertea M, Lin X, Salzberg SL (2001) GeneSplicer: a new computational method for splice site prediction. Nucleic Acids Res 29:1185–1190
Gorringe KL, Choong DY, Visvader JE et al (2007) BARD1 variants are not associated with breast cancer risk in Australian familial breast cancer. Breast Cancer Res Treat. doi:10.1007/s10549-007-9799-x
Campbell IG, Choong D, Chenevix-Trench G (2004) No germline mutations in the histone acetyltransferase gene EP300 in BRCA1 and BRCA2 negative families with breast cancer and gastric, pancreatic, or colorectal cancer. Breast Cancer Res 6:R366–371
Acknowledgements
The authors would like to thank Heather Thorne, Danni Surace and Lynda Williams for preparing DNA, the kConFab research nurses and staff of the Familial Cancer Clinics for data collection, kConFab Central Registry staff for supplying data, and the families for their participation. kConFab is supported by the NHMRC Australia, the National Breast Cancer Foundation of Australia and the Cancer Councils of New South Wales, Queensland, South Australia, Victoria and Western Australia. This work was supported by the Victorian Breast Cancer Research Consortium.
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Gorringe, K.L., Choong, D.Y.H., Lindeman, G.J. et al. Breast cancer risk and the BRCA1 interacting protein CTIP. Breast Cancer Res Treat 112, 351–352 (2008). https://doi.org/10.1007/s10549-007-9862-7
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DOI: https://doi.org/10.1007/s10549-007-9862-7