Identification of a common polymorphism in the TopBP1 gene associated with hereditary susceptibility to breast and ovarian cancer.
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Summary
Results suggest that Arg309Cys is a commonly occurring germline alteration possibly associated with a slightly increased breast and/or ovarian cancer risk.
- Type
- article
- Published
- 2006-10-01
- Cited by
- 52
- References
- 32
- OpenAlex
- https://openalex.org/W1979087808
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:38271439
Keywords
Ovarian cancer, Breast cancer, Identification (biology), Genetics, Gene
References
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- Identification of the breast cancer susceptibility gene BRCA2
- Evidence of founder mutations in Finnish BRCA1 and BRCA2 families.
- Identification and functional analysis of TopBP1 and its homologs.
- Conformation sensitive gel electrophoresis for simple and accurate detection of mutations: comparison with denaturing gradient gel electrophoresis and nucleotide sequencing.
- Requirement of ATM-dependent phosphorylation of brca1 in the DNA damage response to double-strand breaks.
- TopBP1 activates the ATR-ATRIP complex.
- Regulation of DNA replication by ATR: signaling in response to DNA intermediates.
- From BRCA1 to RAP1: a widespread BRCT module closely associated with DNA repair
- Germline TP53 alterations in Finnish breast cancer families are rare and occur at conserved mutation-prone sites
- TopBP1 localises to centrosomes in mitosis and to chromosome cores in meiosis
- Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium.
- A DNA Damage-Regulated BRCT-Containing Protein, TopBP1, Is Required for Cell Survival
- Cooperation of HECT-domain Ubiquitin Ligase hHYD and DNA Topoisomerase II-binding Protein for DNA Damage Response*
Cited by
- Association between the c.*229C>T polymorphism of the topoisomerase IIβ binding protein 1 (TopBP1) gene and breast cancer
- Regulation of the ATR signalling pathway by Adenovirus
- Function of TopBP1 in genome stability.
- Identification of Genomic Predictors of Response to the CDK4/6 Inhibitor Palbociclib using the UCLATORL Panel of Human Cancer Cell Lines
- The role of Human Papillomaviruses and their replication in nonmelanoma skin cancer
- The c.*229C > T gene polymorphism in 3′UTR region of the topoisomerase IIβ binding protein 1 gene and LOH in BRCA1/2 regions and their effect on the risk and progression of human laryngeal carcinoma
- RT-PCR Analysis of TOPBP1 Gene Expression in Hereditary Breast Cancer
- Mechanisms and Regulation of Mitotic Recombination in Saccharomyces cerevisiae
- Allelic variability in the third intron of the fibroin light chain gene in Bombyx mori (Lepidoptera: Bombycidae).
- Schizosaccharomyces pombe Rad4/Cut5 Protein Modification and Chromatin Binding Changes in DNA Damage
- Expression of TopBP1 in canine mammary neoplasia in relation to histological type, Ki67, ERalpha and p53.
- Geminin organizes the molecular platform to balance cellular proliferation and differentiation.
- Recognition of DNA double strand breaks by the BRCA1 tumor suppressor network
- A Novel Candidate Disease Genes Prioritization Method Based on Module Partition and Rank Fusion
- The E3 ubiquitin ligase EDD is an adverse prognostic factor for serous epithelial ovarian cancer and modulates cisplatin resistance in vitro
- Evolutionary conservation of the CDK targets in eukaryotic DNA replication initiation
- Immunohistochemical expression of TopBP1 in feline mammary neoplasia in relation to histological grade, Ki67, ERalpha and p53.
- Importin β-dependent nuclear import of TopBP1 in ATR-Chk1 checkpoint in Xenopus egg extracts
- TopBP1: A BRCT-scaffold protein functioning in multiple cellular pathways.
- Protein-protein interactions underlying damage checkpointactivation in S. pombe
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