SNPs in cancer research and treatment

被引:172
作者
Erichsen, HC
Chanock, SJ
机构
[1] NCI, Sect Genom Variat, Pediat Oncol Branch, Ctr Canc Res,Adv Technol Ctr,NIH, Bethesda, MD 20892 USA
[2] NCI, Core Genotyping Facil, NIH, Bethesda, MD 20892 USA
关键词
cancer; genomics; haplotype; single-nucleotide polymorphism;
D O I
10.1038/sj.bjc.6601574
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
Genetic variation in the human genome is an emerging resource for studying cancer, a complex set of diseases characterised by both environmental and genetic contributions. The number of common germ-line variants is great, on the order of 10-15 million per person, and represents a remarkable opportunity to investigate the aetiology, interindividual differences in treatment response and outcomes of specific cancers. The study of genetic variation can elucidate critical determinants in environmental exposure and cancer, which could have future implications for preventive and early intervention strategies. However, we are in the initial stages of characterising the tools (i.e., the single-nucleotide polymorphism, SNP) to rigorously analyse the genetic contributions to complex diseases, such as cancer. If the promise of the genomic era is to be realised, we must integrate this information into new strategies for implementation in both public health measures and, most importantly, provision of individual cancer-related care.
引用
收藏
页码:747 / 751
页数:5
相关论文
共 35 条
[1]   Thiopurine methyltransferase genotype predicts therapy-limiting severe toxicity from azathioprine [J].
Black, AJ ;
McLeod, HL ;
Capell, HA ;
Powrie, RH ;
Matowe, LK ;
Pritchard, SC ;
Collie-Duguid, ESR ;
Reid, DM .
ANNALS OF INTERNAL MEDICINE, 1998, 129 (09) :716-718
[2]   Haplotype and linkage disequilibrium architecture for human cancer-associated genes [J].
Bonnen, PE ;
Wang, PJ ;
Kimmel, M ;
Chakraborty, R ;
Nelson, DL .
GENOME RESEARCH, 2002, 12 (12) :1846-1853
[3]   Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease [J].
Botstein, D ;
Risch, N .
NATURE GENETICS, 2003, 33 (Suppl 3) :228-237
[4]   Additional SNPs and linkage-disequilibrium analyses are necessary for whole-genome association studies in humans [J].
Carlson, CS ;
Eberle, MA ;
Rieder, MJ ;
Smith, JD ;
Kruglyak, L ;
Nickerson, DA .
NATURE GENETICS, 2003, 33 (04) :518-521
[5]  
Cascorbi I, 2000, CANCER RES, V60, P644
[6]   Association between chronic disseminated candidiasis in adult acute leukemia and common IL4 promoter haplotypes [J].
Choi, EH ;
Foster, CB ;
Taylor, JG ;
Erichsen, HC ;
Chen, RA ;
Walsh, TJ ;
Anttila, VJ ;
Ruutu, T ;
Palotie, A ;
Chanock, SJ .
JOURNAL OF INFECTIOUS DISEASES, 2003, 187 (07) :1153-1156
[7]   Problems of reporting genetic associations with complex outcomes [J].
Colhoun, HM ;
McKeigue, PM ;
Smith, GD .
LANCET, 2003, 361 (9360) :865-872
[8]   High-resolution haplotype structure in the human genome [J].
Daly, MJ ;
Rioux, JD ;
Schaffner, SE ;
Hudson, TJ ;
Lander, ES .
NATURE GENETICS, 2001, 29 (02) :229-232
[9]   Synonymous mutations in the human dopamine receptor D2 (DRD2) affect mRNA stability and synthesis of the receptor [J].
Duan, JB ;
Wainwright, MS ;
Comeron, JM ;
Saitou, N ;
Sanders, AR ;
Gelernter, J ;
Gejman, PV .
HUMAN MOLECULAR GENETICS, 2003, 12 (03) :205-216
[10]   Host defense molecule polymorphisms influence the risk for immune-mediated complications in chronic granulomatous disease [J].
Foster, CB ;
Lehrnbecher, T ;
Mol, F ;
Steinberg, SM ;
Venzon, DJ ;
Walsh, TJ ;
Noack, D ;
Rae, J ;
Winkelstein, JA ;
Curnutte, JT ;
Chanock, SJ .
JOURNAL OF CLINICAL INVESTIGATION, 1998, 102 (12) :2146-2155