The histone protein family member X (H2AFX) is important in maintaining chromatin structure and genetic stability. Genetic variants in H2AFX may alter protein functions and thus cancer risk. In this case-control study, we genotyped four common single nucleotide polymorphisms (i.e., -1654A > G [rs643788], -1420G > A [rs8551], and -1187T > C [rs7759] in the H2AFX promoter region and 1057C > T [rs7350] in the 3' untranslated region (UTR)) in 467 patients with sporadic breast cancer and 488 cancer-free controls. All female subjects were non-Hispanic whites aged
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http://dx.doi.org/10.1007/s10549-007-9717-2 | DOI Listing |
Clin Rheumatol
November 2023
Department of Cardiology, Children's Hospital of Soochow University, No 92, Zhongnan Street, Suzhou, People's Republic of China.
Background: Kawasaki disease (KD) is considered the main contributor to acquired heart diseases in developed countries. However, the precise pathogenesis of KD remains unclear. Neutrophils play roles in KD.
View Article and Find Full Text PDFBMC Cancer
April 2018
Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland.
Background: DNA damage repair is a complex process, which can trigger the development of cancer if disturbed. In this study, we hypothesize a role of variants in the ATM, H2AFX and MRE11 genes in determining breast cancer (BC) susceptibility.
Methods: We examined the whole sequence of the ATM kinase domain and estimated the frequency of founder mutations in the ATM gene (c.
Mutat Res
July 2015
Canada's Michael Smith Genome Sciences Centre, BC Cancer Agency, 675W 10th Avenue, Vancouver, British Columbia V5Z 1L3, Canada; Department of Medical Genetics, University of British Columbia, C201 - 4500 Oak Street, Vancouver, British Columbia V6H 3N1, Canada; Department of Biomedical Physiology and Kinesiology, Simon Fraser University, K9625 - 8888 University Drive, Burnaby, British Columbia V5A 1S6, Canada. Electronic address:
Due to the critical role of the H2AX histone variant in double-strand break repair, genetic variants in the H2AX gene, H2AFX, may influence cancer susceptibility. Genetic association studies have correlated H2AFX upstream variants with cancer risk; however it is unclear if any are causal. H2AFX has at least two alternate transcripts that encode the same reading frame; a short 0.
View Article and Find Full Text PDFBr J Cancer
November 2013
Institut für Pathologie, Universitätsmedizin Greifswald, Greifswald, Germany.
Background: The DNA-repair gene DNA-dependent kinase catalytic subunit (DNA-PKcs) favours or inhibits carcinogenesis, depending on the cancer type. Its role in human hepatocellular carcinoma (HCC) is unknown.
Methods: DNA-dependent protein kinase catalytic subunit, H2A histone family member X (H2AFX) and heat shock transcription factor-1 (HSF1) levels were assessed by immunohistochemistry and/or immunoblotting and qRT-PCR in a collection of human HCC.
PLoS One
May 2014
Canada's Michael Smith Genome Sciences Centre, BC Cancer Agency, Vancouver, British Columbia, Canada ; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
H2AFX encodes a histone variant involved in signaling sites of DNA damage and recruiting repair factors. Genetic variants in H2AFX may influence risk of non-Hodgkin lymphoma (NHL), a heterogeneous group of lymphoid tumors that are characterized by chromosomal translocations. We previously reported that rs2509049, a common variant in the promoter of H2AFX, was associated with risk for NHL in the British Columbia population.
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