دورية أكاديمية

Assessment of clinical validity of a breast cancer risk model combining genetic and clinical information.

التفاصيل البيبلوغرافية
العنوان: Assessment of clinical validity of a breast cancer risk model combining genetic and clinical information.
المؤلفون: Mealiffe ME; Perlegen Sciences, Inc, Mountain View, CA, USA., Stokowski RP, Rhees BK, Prentice RL, Pettinger M, Hinds DA
المصدر: Journal of the National Cancer Institute [J Natl Cancer Inst] 2010 Nov 03; Vol. 102 (21), pp. 1618-27. Date of Electronic Publication: 2010 Oct 18.
نوع المنشور: Journal Article; Research Support, N.I.H., Extramural
اللغة: English
بيانات الدورية: Publisher: Oxford University Press Country of Publication: United States NLM ID: 7503089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2105 (Electronic) Linking ISSN: 00278874 NLM ISO Abbreviation: J Natl Cancer Inst Subsets: MEDLINE
أسماء مطبوعة: Publication: <2003-> : Cary, NC : Oxford University Press
Original Publication: Bethesda, Md., U. S. Dept. of Health, Education, and Welfare, Public Health Service, National Institutes of Health; Washington, for sale by the Supt. of Docs., U. S. Govt. Print. Off.
مواضيع طبية MeSH: Models, Statistical* , Polymorphism, Single Nucleotide*, Breast Neoplasms/*diagnosis , Breast Neoplasms/*genetics , White People/*genetics, Age Factors ; Age of Onset ; Aged ; Area Under Curve ; Biomarkers, Tumor/analysis ; Biopsy ; Breast Neoplasms/chemistry ; Case-Control Studies ; Female ; Genetic Predisposition to Disease ; Humans ; Linear Models ; Logistic Models ; Mass Screening ; Menarche ; Middle Aged ; Odds Ratio ; Parturition ; Postmenopause ; Predictive Value of Tests ; ROC Curve ; Receptors, Estrogen/analysis ; Reproducibility of Results ; Risk Assessment ; Risk Factors
مستخلص: Background: The Gail model is widely used for the assessment of risk of invasive breast cancer based on recognized clinical risk factors. In recent years, a substantial number of single-nucleotide polymorphisms (SNPs) associated with breast cancer risk have been identified. However, it remains unclear how to effectively integrate clinical and genetic risk factors for risk assessment.
Methods: Seven SNPs associated with breast cancer risk were selected from the literature and genotyped in white non-Hispanic women in a nested case-control cohort of 1664 case patients and 1636 control subjects within the Women's Health Initiative Clinical Trial. SNP risk scores were computed based on previously published odds ratios assuming a multiplicative model. Combined risk scores were calculated by multiplying Gail risk estimates by the SNP risk scores. The independence of Gail risk and SNP risk was evaluated by logistic regression. Calibration of relative risks was evaluated using the Hosmer-Lemeshow test. The performance of the combined risk scores was evaluated using receiver operating characteristic curves. The net reclassification improvement (NRI) was used to assess improvement in classification of women into low (<1.5%), intermediate (1.5%-2%), and high (>2%) categories of 5-year risk. All tests of statistical significance were two-sided.
Results: The SNP risk score was nearly independent of Gail risk. There was good agreement between predicted and observed SNP relative risks. In the analysis for receiver operating characteristic curves, the combined risk score was more discriminating, with area under the curve of 0.594 compared with area under the curve of 0.557 for Gail risk alone (P < .001). Classification also improved for 5.6% of case patients and 2.9% of control subjects, showing an NRI value of 0.085 (P = 1.0 × 10⁻⁵). Focusing on women with intermediate Gail risk resulted in an improved NRI of 0.195 (P = 8.6 × 10⁻⁵).
Conclusions: Combining validated common genetic risk factors with clinical risk factors resulted in modest improvement in classification of breast cancer risks in white non-Hispanic postmenopausal women. Classification performance was further improved by focusing on women at intermediate risk.
التعليقات: Comment in: J Natl Cancer Inst. 2010 Nov 3;102(21):1605-6. (PMID: 20956781)
References: J Clin Oncol. 2003 Feb 15;21(4):593-601. (PMID: 12586794)
J Natl Cancer Inst. 2007 Nov 21;99(22):1695-705. (PMID: 18000216)
Stat Med. 2009 Feb 1;28(3):525-6; author reply 526-8. (PMID: 17907248)
J Natl Cancer Inst. 2006 Dec 6;98(23):1673-5. (PMID: 17148763)
J Natl Cancer Inst. 1989 Dec 20;81(24):1879-86. (PMID: 2593165)
N Engl J Med. 2010 Mar 18;362(11):986-93. (PMID: 20237344)
Cancer Epidemiol Biomarkers Prev. 2007 Mar;16(3):467-72. (PMID: 17337650)
Nature. 2007 Jun 28;447(7148):1087-93. (PMID: 17529967)
Nat Genet. 2007 Jul;39(7):870-4. (PMID: 17529973)
Clin Cancer Res. 2009 Mar 1;15(5):1787-93. (PMID: 19223501)
Nat Genet. 2007 Jul;39(7):865-9. (PMID: 17529974)
Ann Intern Med. 2008 Nov 18;149(10):751-60. (PMID: 19017593)
J Clin Oncol. 2009 Jul 1;27(19):3235-58. (PMID: 19470930)
Science. 1994 Oct 7;266(5182):66-71. (PMID: 7545954)
N Engl J Med. 2008 Mar 20;358(12):1240-9. (PMID: 18354102)
Stat Med. 2008 Jan 30;27(2):191-5. (PMID: 17671959)
Circulation. 2007 Feb 20;115(7):928-35. (PMID: 17309939)
N Engl J Med. 2007 Jul 12;357(2):154-62. (PMID: 17625127)
Arch Intern Med. 2006 Nov 13;166(20):2260-5. (PMID: 17101945)
Stat Med. 2008 Jan 30;27(2):157-72; discussion 207-12. (PMID: 17569110)
Nat Genet. 2002 May;31(1):33-6. (PMID: 11984562)
Ann Intern Med. 2002 Jul 2;137(1):59-69. (PMID: 12093250)
Am J Gastroenterol. 2009 Mar;104(3):630-8. (PMID: 19174780)
Annu Rev Public Health. 2008;29:131-50. (PMID: 18348708)
CA Cancer J Clin. 2008 Nov-Dec;58(6):347-71. (PMID: 18981297)
J Natl Cancer Inst. 2009 Jul 1;101(13):959-63. (PMID: 19535781)
N Engl J Med. 2008 Feb 28;358(9):910-9. (PMID: 18199855)
Nat Genet. 2008 Jun;40(6):703-6. (PMID: 18438407)
J Natl Cancer Inst. 2008 Jul 16;100(14):978-9. (PMID: 18612128)
Ann Intern Med. 2006 Jul 4;145(1):21-9. (PMID: 16818925)
Nat Genet. 2007 Mar;39(3):352-8. (PMID: 17293864)
CA Cancer J Clin. 2007 Mar-Apr;57(2):75-89. (PMID: 17392385)
Arch Intern Med. 2008 Nov 24;168(21):2304-10. (PMID: 19029492)
N Engl J Med. 2008 Jun 26;358(26):2796-803. (PMID: 18579814)
Nature. 1995 Dec 21-28;378(6559):789-92. (PMID: 8524414)
N Engl J Med. 2005 Jul 21;353(3):229-37. (PMID: 16034008)
Nat Genet. 2009 May;41(5):579-84. (PMID: 19330030)
J Natl Cancer Inst. 2008 Jul 16;100(14):1037-41. (PMID: 18612136)
Nat Genet. 2009 May;41(5):585-90. (PMID: 19330027)
Stata J. 2009 Jan 1;9(1):17-39. (PMID: 20046933)
معلومات مُعتمدة: HHSN268200764314C United States PHS HHS; P01 CA53996 United States CA NCI NIH HHS
المشرفين على المادة: 0 (Biomarkers, Tumor)
0 (Receptors, Estrogen)
تواريخ الأحداث: Date Created: 20101020 Date Completed: 20101116 Latest Revision: 20240512
رمز التحديث: 20240512
مُعرف محوري في PubMed: PMC2970578
DOI: 10.1093/jnci/djq388
PMID: 20956782
قاعدة البيانات: MEDLINE
الوصف
تدمد:1460-2105
DOI:10.1093/jnci/djq388