遗传风险评分在结直肠癌风险评估中的研究进展
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摘要
结直肠癌的发生是多步骤、多因素参与的复杂过程,探讨结直肠癌的遗传病因及致病机制,对结直肠癌的早期防治具有重要的意义。结直肠癌相关的易感位点同时也可能在其他相关疾病中发挥作用。遗传风险评分作为探索单核苷酸多态性与复杂疾病之间关系的新兴方法,综合了若干易感位点的微弱效应,使基因多态对疾病的预测性大幅度提升。本文就结直肠癌遗传风险评分的研究进展作一综述。
引文
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[2]MORSON B.President's address.The polyp-cancer sequence in the large bowel[J].Proc R Soc Med,1974,67(6 Pt 1):451-457.
[3]STRUM W B.Colorectal Adenomas[J].N Engl J Med,2016,374(11):1065-1075.
[4]LIU Y,ZHANG X,HAN C,et al.TP53 loss creates therapeutic vulnerability in colorectal cancer[J].Nature,2015,520(7549):697-701.
[5]ZHANG L,SHAY J W.Multiple Roles of APC and its Therapeutic Implications in Colorectal Cancer[J].J Natl Cancer Inst,2017,109(8):djw332.
[6]BOUTIN A T,LIAO W T,WANG M,et al.Oncogenic Kras drives invasion and maintains metastases in colorectal cancer[J].Genes Dev,2017,31(4):370-382.
[7]CICENAS J,TAMOSAITIS L,KVEDERAVICIUTE K,et al.KRAS,NRAS and BRAF mutations in colorectal cancer and melanoma[J].Med Oncol,2017,34(2):26.
[8]SEGELOV E,WARING P,DESAI J,et al.ICECREAM:randomised phase II study of cetuximab alone or in combination with irinotecan in patients with metastatic colorectal cancer with either KRAS,NRAS,BRAF and PI3KCA wild type,or G13D mutated tumours[J].BMC Cancer,2016,16:339.
[9]THEODORATOU E,MONTAZERI Z,HAWKEN S,et al.Systematic meta-analyses and field synopsis of genetic association studies in colorectal cancer[J].J Natl Cancer Inst,2012,104(19):1433-1457.
[10]LIN S H,RAJU G S,HUFF C,et al.The somatic mutation landscape of premalignant colorectal adenoma[J].Gut,2018,67(7):1299-1305.
[11]LAM K,PAN K,LINNEKAMP J F,et al.DNA methylation based biomarkers in colorectal cancer:A systematic review[J].Biochim Biophys Acta,2016,1866(1):106-120.
[12]NAKAZAWA T,KONDO T,MA D,et al.Global histone modification of histone H3 in colorectal cancer and its precursor lesions[J].Hum Pathol,2012,43(6):834-842.
[13]KITA Y,YONEMORI K,OSAKO Y,et al.Noncoding RNA and colorectal cancer:its epigenetic role[J].J Hum Genet,2017,62(1):41-47.
[14]MOODY L,HE H,PAN Y X,et al.Methods and novel technology for microRNA quantification in colorectal cancer screening[J].Clin Epigenetics,2017,9:119.
[15]SMITH C J,SAFTLAS A F,SPRACKLEN C N,et al.Genetic Risk Score for Essential Hypertension and Risk of Preeclampsia[J].Am JHypertens,2016,29(1):17-24.
[16]SOROSINA M,ESPOSITO F,GUASCHINO C,et al.Inverse correlation of genetic risk score with age at onset in bout-onset and pro-gressiveonset multiple sclerosis[J].Mult Scler,2015,21(11):1463-1467.
[17]TADA H,SHIFFMAN D,SMITH J G,et al.Twelve-single nucleotide polymorphism genetic risk score identifies individuals at increased risk for future atrial fibrillation and stroke[J].Stroke,2014,45(10):2856-2862.
[18]WEI H M,CHEN H T,WANG P,et al.Prostate cancer antigen 3and genetic risk score as markers for the detection of prostate cancer in the Chinese population[J].Asian J Androl,2015,17(1):168-170.
[19]王铖,戴俊程,孙义民,等.遗传风险评分的原理与方法[J].中华流行病学杂志,2015,36(10):1062-1064.
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[21]XIN J,CHU H,BEN S,et al.Evaluating the effect of multiple genetic risk score models on colorectal cancer risk prediction[J].Gene,2018,673:174-180.
[22]HOSONO S,ITO H,OZE I,et al.A risk prediction model for colorectal cancer using genome-wide association study-identified polymorphisms and established risk factors among Japanese:results from two independent case-control studies[J].Eur J Cancer Prev,2016,25(6):500-507.
[23]JUNG K J,WON D,JEON C,et al.A colorectal cancer prediction model using traditional and genetic risk scores in Koreans[J].BMCGenet,2015,16:49.
[24]CHO Y A,LEE J,OH J H,et al.Genetic Risk Score,Combined Lifestyle Factors and Risk of Colorectal Cancer[J].Cancer Res Treat,2018.
[25]HSU L,JEON J,BRENNER H,et al.A model to determine colorectal cancer risk using common genetic susceptibility loci[J].Gastroenterology,2015,148(7):1330-1339.
[26]WEIGL K,CHANG-CLAUDE J,KNEBEL P,et al.Strongly enhanced colorectal cancer risk stratification by combining family history and genetic risk score[J].Clin Epidemiol,2018,10:143-152.
[27]WEIGL K,THOMSEN H,BALAVARCA Y,et al.Genetic Risk Score Is Associated With Prevalence of Advanced Neoplasms in a Colorectal Cancer Screening Population[J].Gastroenterology,2018,155(1):88-98.
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[29]WANG T,GOODMAN M,SUN Y V,et al.DNA base excision repair genetic risk scores,oxidative balance,and incident,sporadic colorectal adenoma[J].Mol Carcinog,2017,56(6):1642-1652.
[30]黄力文,王善娟,梁妙茵,等.结直肠癌的癌前病变筛查[J].中华流行病学杂志,2017,38(10):1441-1444.
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[34]FUCHS C S,GIOVANNUCCI E L,COLDITZ G A,et al.A prospective study of family history and the risk of colorectal cancer[J].NEngl J Med,1994,331(25):1669-1674.
[35]KOPP T I,ANDERSEN V,TJONNELAND A,et al.Polymorphisms in ATP-binding cassette transporter genes and interaction with diet and life style factors in relation to colorectal cancer in a Danish prospective case-cohort study[J].Scand J Gastroenterol,2015,50(12):1469-1481.
[36]KOPP T I,ANDERSEN V,TJONNELAND A,et al.Polymorphisms in NFKB1 and TLR4 and interaction with dietary and life style factors in relation to colorectal cancer in a Danish prospective case-cohort study[J].PLoS One,2015,10(2):e0116394.