Population-based screening in the era of genomics

Personalized Medicine

Volumn 9, Issue 4, 2012, Pages 451-455

  Pashayan, Nora ^a   Pharoah, Paul ^b  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

breast cancer; polygenic risk; prostate cancer; stratified screening

Indexed keywords

ADULT; AGE DISTRIBUTION; AGED; ARTICLE; BREAST CANCER; CANCER DIAGNOSIS; CANCER GROWTH; CANCER PROGNOSIS; CANCER RISK; CANCER SCREENING; COST EFFECTIVENESS ANALYSIS; DISEASE PREDISPOSITION; FEMALE; GENETIC RISK; GENOMICS; HEALTH CARE COST; HEALTH PROGRAM; HEALTH SERVICE; HUMAN; MALE; MASS SCREENING; MULTIFACTORIAL INHERITANCE; PATIENT SELECTION; PREVENTIVE MEDICINE; PRIORITY JOURNAL; PROPHYLAXIS; PROSTATE CANCER; RISK ASSESSMENT; SCREENING TEST; STRATIFIED SAMPLE;

EID: 84862744116     PISSN: 17410541     EISSN: 1744828X     Source Type: Journal    
DOI: 10.2217/pme.12.40     Document Type: Article

References (18)

1. Janssens AC, van Duijn CM. Genome-based prediction of common diseases: advances and prospects. Hum. Mol. Genet. 17(R2), R166-R173 (2008).
2. van Hoek M, Dehghan A, Witteman JC et al. Predicting Type 2 diabetes based on polymorphisms from genome-wide association studies: a population-based study. Diabetes 57(11), 3122-3128 (2008).
3. Lango H, Palmer CN, Morris AD et al. Assessing the combined impact of 18 common genetic variants of modest effect sizes on Type 2 diabetes risk. Diabetes 57(11), 3129-3135 (2008).
4. Kathiresan S, Melander O, Anevski D et al. Polymorphisms associated with cholesterol and risk of cardiovascular events. N. Engl. J. Med. 358(12), 1240-1249 (2008).
5. Pharoah PD, Antoniou AC, Easton DF, Ponder BA. Polygenes, risk prediction, and targeted prevention of breast cancer. N. Engl. J. Med. 358(26), 2796-2803 (2008). Examines the implications of using common genetic variants in breast cancer for both individualized disease prevention and for public health policy.
6. Gail MH. Discriminatory accuracy from single-nucleotide polymorphisms in models to predict breast cancer risk. J. Natl Cancer Inst. 100(14), 1037-1041 (2008).
7. Wacholder S, Hartge P, Prentice R et al. Performance of common genetic variants in breast-cancer risk models. N. Engl. J. Med. 362(11), 986-993 (2010).
8. Zheng SL, Sun J, Wiklund F et al. Cumulative association of five genetic variants with prostate cancer. N. Engl. J. Med. 358(9), 910-919 (2008).
9. Salinas CA, Koopmeiners JS, Kwon EM et al. Clinical utility of five genetic variants for predicting prostate cancer risk and mortality. Prostate 69(4), 363-372 (2009).
10. Hingorani AD, Shah T, Kumari M, Sofat R, Smeeth L. Translating genomics into improved healthcare. BMJ 341, C5945 (2010).
11. Pashayan N, Duffy SW, Chowdhury S et al. Polygenic susceptibility to prostate and breast cancer: implications for personalised screening. Br. J. Cancer 104(10), 1656-1663 (2011). Compares number of individuals eligible for screening and the number of cases potentially detectable by screening in the population undergoing screening based on age alone with a population undergoing personalized screening based on age and polygenic risk profile.
12. Pashayan N, Pharoah P. Translating genomics into improved population screening: hype or hope? Hum. Genet. 130(1), 19-21 (2011).
13. Pharoah PD, Antoniou A, Bobrow M, Zimmern RL, Easton DF, Ponder BA. Polygenic susceptibility to breast cancer and implications for prevention. Nat. Genet. 31(1), 33-36 (2002). Examines the potential for prediction of risk based on common genetic variation and compares this with the prediction that could be made using established risk factors.
14. Risch N. The genetic epidemiology of cancer: interpreting family and twin studies and their implications for molecular genetic approaches. Cancer Epidemiol. Biomarkers Prev. 10(7), 733-741 (2001).
15. Fredholm H, Eaker S, Frisell J, Holmberg L, Fredriksson I, Lindman H. Breast cancer in young women: poor survival despite intensive treatment. PLoS ONE 4(11), e7695 (2009).
16. Lin DW, Porter M, Montgomery B. Treatment and survival outcomes in young men diagnosed with prostate cancer: a population-based cohort study. Cancer 115(13), 2863-2871 (2009).
17. Gray JA, Patnick J, Blanks RG. Maximising benefit and minimising harm of screening. BMJ 336(7642), 480-483 (2008).
18. Collaborative oncological gene-environment study (2012). http://cogseu.org