Single Nucleotide Polymorphisms of nucleotide excision repair and homologous recombination repair pathways and their role in the risk of osteosarcoma

Yin, Jianhua

doi:10.12669/pjms.312.6569

Cited by 4 publications

(1 citation statement)

References 21 publications

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“…Two studies 6 , 7 for the relationship between ERCC1 rs3212986 (8092 C>A) gene polymorphism and osteosarcoma risk were included in this meta-analysis. We found that ERCC1 rs3212986 (8092 C>A) gene polymorphism was not associated with osteosarcoma risk (A allele: OR = 0.79, 95% CI: 0.56–1.12, P = 0.18; AA genotype: OR = 0.68, 95% CI: 0.30–1.57, P = 0.37; CC genotype: OR = 1.05, 95% CI: 0.78–1.40, P = 0.76).…”

Section: Resultsmentioning

confidence: 99%

Association of ERCC gene polymorphism with osteosarcoma risk

Wang¹,

Li²,

et al. 2020

Afr H. Sci.

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Background: The relationship between ERCC gene polymorphism and osteosarcoma risk / overall survival of osteosarco- ma is still conflicting, and this meta-analysis was performed to assess these associations. Material and methods: The association studies were identified from PubMed, and eligible reports were included and cal- culated using meta-analysis method. Results: Four studies were included for the association of ERCC gene polymorphism with osteosarcoma risk, and nine studies were recruited into this meta-analysis for the relationship between ERCC gene polymorphism and overall survival of osteosarcoma. The meta-analysis indicated that ERCC1 rs3212986 (8092 C>A) gene polymorphism, ERCC1 rs11615 (19007 T>C) gene polymorphism, ERCC2 rs1799793 (A>G) gene polymorphism, ERCC2 rs13181 (Lys751Gln) gene pol- ymorphism were not associated with osteosarcoma risk. ERCC1 rs2298881 (C>A) gene polymorphism, ERCC1 rs3212986 (8092 C>A) gene polymorphism, ERCC1 rs11615 (19007 T>C) gene polymorphism, ERCC2 rs1799793 (Asp312Asn) gene polymorphism were not associated with overall survival of osteosarcoma. Interestingly, ERCC2 rs13181 A allele and GG genotype were associated with overall survival of osteosarcoma, but AA genotype not (A allele: OR = 0.78, 95% CI: 0.65- 0.93, P = 0.007; GG genotype: OR = 1.32, 95% CI: 1.05-1.65, P = 0.02; AA genotype: OR = 0.69, 95% CI: 0.45-1.04, P = 0.08). Conclusion: ERCC2 rs13181 A allele and GG genotype were associated with overall survival of osteosarcoma. Keywords: Osteosarcoma; overall survival of osteosarcoma; ERCC; gene polymorphism; meta-analysis.

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Section: Resultsmentioning

confidence: 99%

Association of ERCC gene polymorphism with osteosarcoma risk

Wang¹,

Li²,

et al. 2020

Afr H. Sci.

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Frequency of Variants in DNA-Repair Genes in a Southwest Colombian Population

2019

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Objective To describe the frequency of mutations in DNA-repair genes in a southwestern Colombian population. Methods We have designed an observational study, including 162 people from all ages from southwest Colombia. We have extracted and collected their DNA in filters. We have immersed the DNA in a phosphate buffer along with DNeasy package (Thermo Fisher Scientific, Waltham, MA, USA). The preparation process was with the TruSeq Exome Library Prep (Illumina, Inc. San Diego, CA, USA), then the obtained libraries were normalized with TruSeq Rapid Exome (Illumina, Inc. San Diego, CA, USA). We sequenced the full exome and identified the variants associated with 12 genes (ataxia telangiectasia mutated [ATM], BRCA1 DNA repair associated [BRCA1], BRCA2 DNA repair associated [BRCA2], checkpoint kinase 2 [CHEK2], epithelial cell adhesion molecule [EPCAM], homeobox protein Hox-B13 [HOXB13], mutS homolog 1, 2 and 6 [MLH1, MSH2, MSH6], nibrin [NBN], PMS1 homolog 2, mismatch repair system component [PMS2], and tumor protein p53 [TP53]). Descriptive statistics were performed with the R software (The R Foundation for Statistical Computing, Vienna, Austria). Results A total of 7,315,466 pieces of data were sequenced in this population. The most frequently mutated genes were ATM (1,221 pieces of data; 13.2%), BRCA1 (1,178 pieces of data; 12.8%), BRCA2 (1,484 pieces of data; 16.12%), and NBN (965 pieces of data; 10.42%). The most common single nucleotide polymorphisms (SNPs) in these 12 genes were the following: BRCA2 (rs169547, rs206075, rs206076); ATM (rs659243, rs228589); TP53 (rs1625895, rs1042522, rs1642785); PMS2 (rs2228006, rs1805319); NBN (rs709816); and MSH6 (rs3136367) Conclusion The BRCA2, ATM, BRCA1 and NBN DNA-repair genes were the most frequently mutated in this southwestern Colombian Population.

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Role of ERCC2 and ERCC3 gene polymorphisms in the development of osteosarcoma

Ma¹,

Zhang²,

Ts³

et al. 2016

Genet. Mol. Res.

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ABSTRACT. We conducted a case-control study to investigate the role of common SNPs in ERCC2 (rs13181 and rs1799793) and ERCC3 (rs4150441 and rs4150506) in the development of osteosarcoma. A 1:2 matched case-control study was conducted. Between January 2012 and December 2013, 141 patients with pathologically diagnosed osteosarcoma and 282 controls were recruited in our study. Genotyping of ERCC2 rs13181 and rs1799793 as well as ERCC3 rs4150441 and rs4150506 were performed using polymerase chain reaction coupled with restriction fragment length polymorphism. The genotype distributions of ERCC2 rs13181 and rs1799793 as well as ERCC3 rs4150441 and rs4150506 showed no significant difference between patients with osteosarcoma and controls, as analyzed by c 2 tests. Multivariate logistic regression analysis did not reveal significant associations between ERCC2 rs13181/rs1799793 or ERCC3 rs4150441/ rs4150506 gene polymorphisms and the development of osteosarcoma in codominant, dominant, and recessive models. In conclusion, we did not find any association between ERCC2 or ERCC3 gene polymorphisms and the development of osteosarcoma. Future studies with larger sample sizes may contribute in elucidating the impact of ERCC2 and ERCC3 gene polymorphisms on osteosarcoma risks.

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Single Nucleotide Polymorphisms of nucleotide excision repair and homologous recombination repair pathways and their role in the risk of osteosarcoma

Cited by 4 publications

References 21 publications

Association of ERCC gene polymorphism with osteosarcoma risk

Association of ERCC gene polymorphism with osteosarcoma risk

Frequency of Variants in DNA-Repair Genes in a Southwest Colombian Population

Role of ERCC2 and ERCC3 gene polymorphisms in the development of osteosarcoma

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