2014
DOI: 10.7314/apjcp.2014.15.18.7589
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Germline Variations of Apurinic/Apyrimidinic Endonuclease 1 (APEX1) Detected in Female Breast Cancer Patients

Abstract: Apurinic/apyrimidinic endonuclease 1 (APEX1) is a multifunctional protein which plays a central role in the BER pathway. APEX1 gene being highly polymorphic in cancer patients and has been indicated to have a contributive role in Apurinic/apyrimidinic (AP) site accumulation in DNA and consequently an increased risk of cancer development. In this case-control study, all exons of the APEX1 gene and its exon/intron boundaries were amplified in 530 breast cancer patients and 395 matched healthy controls and then a… Show more

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Cited by 8 publications
(5 citation statements)
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“…Germline nucleotide variants in OBSCN (fifth by MUFFINN yet below 6000th by the gene-centric methods in papillary kidney carcinoma (KIRP) samples) were found in highly aggressive tumors such as glioblastoma, melanoma, and pancreatic carcinoma [ 43 ] and involved in cancer predispositions. Likewise, germline variants in APEX1 (14th by MUFFINN yet below 13,000th by the gene-centric methods in head and neck squamous cell carcinoma (HNSC) samples) is known to increase the risk of breast cancer development by contributing apurinic/apyrimidinic (AP) site accumulation in DNA [ 44 ]. Indeed, the genes functionally associated with APEX1 are enriched for a relevant pathway, “transcription-coupled nucleotide excision repair” (GO biological process, P = 7.45e-05; Fig.…”
Section: Resultsmentioning
confidence: 99%
“…Germline nucleotide variants in OBSCN (fifth by MUFFINN yet below 6000th by the gene-centric methods in papillary kidney carcinoma (KIRP) samples) were found in highly aggressive tumors such as glioblastoma, melanoma, and pancreatic carcinoma [ 43 ] and involved in cancer predispositions. Likewise, germline variants in APEX1 (14th by MUFFINN yet below 13,000th by the gene-centric methods in head and neck squamous cell carcinoma (HNSC) samples) is known to increase the risk of breast cancer development by contributing apurinic/apyrimidinic (AP) site accumulation in DNA [ 44 ]. Indeed, the genes functionally associated with APEX1 are enriched for a relevant pathway, “transcription-coupled nucleotide excision repair” (GO biological process, P = 7.45e-05; Fig.…”
Section: Resultsmentioning
confidence: 99%
“…Eleven positively regulated genes have all been documented and con rmed to be closely associated with tumor progression. VSIG4 is a B7 family related protein expressed by resting macrophages [33] that inhibits the activation of macrophages to endotoxin and negatively regulates T cell immunity [34] . It has been reported in the literature that high expression of VSIG4 promotes primary lung tumorigenesis and is associated with poor prognosis in high-grade gliomas [35,36] .…”
Section: Discussionmentioning
confidence: 99%
“…The second lumB-specific gene is APEX1. Genetic alterations in genes that code for proteins that play a role in DNA repair pathways and in homologous recombination of DNA such as APEX1, BRCA1, BRCA2, XRCC2, XRCC3, ATM, CHEK2, PALB2, RAD51, and XPD have been implicated in BC [40]. APEX1 is a multifunctional protein that plays a central role in the base excision repair pathway.…”
Section: Discussionmentioning
confidence: 99%