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Gain-of-function mutations of PPM1D/Wip1 impair the p53-dependent G1 checkpoint
Mutations in PPM1D/Wip1 phosphatase impair the DNA damage-induced checkpoint and may predispose cells to tumorigenesis.
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High proportion of recurrent germline mutations in the BRCA1 gene in breast and ovarian cancer patients from the Prague area
BackgroundGermline mutations in the BRCA1 and BRCA2 genes have been shown to account for the majority of hereditary breast and ovarian cancers. The purpose of our study was to estimate the incidenceExpand
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The PALB2 Gene Is a Strong Candidate for Clinical Testing in BRCA1- and BRCA2-Negative Hereditary Breast Cancer
Background: Several reports indicate that inherited mutations in the PALB2 gene predispose to breast cancer. However, there is little agreement about the clinical relevance and usefulness of mutationExpand
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The CHEK2 c.1100delC germline mutation rarely contributes to breast cancer development in the Czech Republic
In this study we performed the CHEK2 c.1100delC mutation analysis in 1046 breast cancer patients and 730 unaffected control individuals. The mutated allele was found in 3 out of 688 unselectedExpand
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Role of single nucleotide polymorphisms and haplotypes in BRCA1 in breast cancer: Czech case–control study
We aimed at determining whether any association exists between six single nucleotide polymorphisms in breast cancer associated gene (BRCA1) and the risk of breast cancer. We constructed haplotypesExpand
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The CHEK2 gene I157T mutation and other alterations in its proximity increase the risk of sporadic colorectal cancer in the Czech population.
Checkpoint kinase 2 (CHEK2) gene codes for an important mediator of DNA damage response pathway. Its mutations increase risk of several types of cancer. We analysed selected CHEK2 mutations in 631Expand
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Analysis of CHEK2 FHA domain in Czech patients with sporadic breast cancer revealed distinct rare genetic alterations
The CHEK2 gene mutations I157T (c.470T > C) and IVS2 + 1G > A affecting the forkhead-associated domain (FHA) have been shown to increase the risk of breast cancer development in several populations.Expand
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Genetic and Preventive Services for Hereditary Breast and Ovarian Cancer in the Czech Republic
The majority of hereditary breast and ovarian cancers can be accounted for by germline mutations in the BRCA1 and BRCA2 genes. Genetic counselling and testing in high-risk patients in the CzechExpand
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Expression of attractin and its differential enzyme activity in glioma cells.
Attractin/mahogany protein was previously shown to be involved in a number of physiological and pathological events, including immune system regulation, body weight control, pigmentation,Expand
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The role of ATM in breast cancer development
Complete or partial inability to sense and repair DNA damage increases the risk of developing cancer. The ataxia telangiectasia mutated (ATM) protein kinase has a crucial role in response to DNAExpand
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