Breast Cancer Risk Prediction Models
- Absolute Risk Prediction Models
- Gene Carrier Risk Status Prediction Models
- Risk Prediction of Women at High Risk
Absolute Risk Prediction Models
Learn more about Absolute Risk Prediction Models
Absolute cancer risk is the probability that an individual with given risk factors and a given age will develop cancer over a defined period of time. In collaboration with investigators in the NCI's Division of Cancer Epidemiology and Genetics
(DCEG) and the staff of the Clinical and Translational Epidemiology Branch in the Division of Cancer Control and Population Sciences' Epidemiology and Genomics Research Program are developing statistical models to predict the absolute risk of developing specific cancers among average-risk individuals based on their risk and protective factors for cancer. Examples of these factors include race, age, sex, body mass index, family history of cancer, history of tobacco use, use of aspirin and nonsteroidal anti-inflammatory drugs (NSAIDS), physical activity, use of hormone replacement therapy, reproductive factors, history of cancer screening, and dietary factors. This research builds on past cancer risk assessment models developed at NCI, including the Breast Cancer Risk Assessment Tool (often referred to as the "Gail Model").
Developing statistical models that estimate the probability of developing cancer over a defined period of time will help clinicians identify individuals at higher risk of specific cancers, allowing for earlier or more frequent screening and counseling of behavioral changes to decrease risk. These types of models also will be useful for designing future chemoprevention and screening intervention trials in individuals at high risk of specific cancers in the general population.
Models with Associated Web Sites
- Matsuno RK, Costantino JP, Ziegler RG, et al. Projecting individualized absolute invasive breast cancer risk in Asian and Pacific Islander American women. J Natl Cancer Inst. Jun 22 2011;103(12):951-961.
- Gail MH, Costantino JP, Pee D, Bondy M, Newman L, Selvan M, Anderson GL, Malone KE, Marchbanks PA, McCaskill-Stevens W, Norman SA, Simon MS, Spirtas R, Ursin G, Bernstein L. Projecting individualized absolute invasive breast cancer risk in African American women. J Natl Cancer Inst. 2007 Dec 5;99(23):1782-92.
- Barlow WE, White E, Ballard-Barbash R, Vacek PM, Titus-Ernstoff L, Carney PA, Tice JA, Buist DS, Geller BM, Rosenberg R, Yankaskas BC, Kerlikowske K. Prospective breast cancer risk prediction model for women undergoing screening mammography. J Natl Cancer Inst. 2006 Sep 6;98(17):1204-14.
- Tyrer J, Duffy SW, Cuzick J. A breast cancer prediction model incorporating familial and personal risk factors. Stat Med. 2004 Apr 15;23(7):1111-30. Erratum in: Stat Med. 2005 Jan 15;24(1):156.
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- International Breast Cancer Intervention Study
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- Colditz GA, Rosner B. Cumulative risk of breast cancer to age 70 years according to risk factor status: data from the Nurses' Health Study. Am J Epidemiol. 2000 Nov 15;152(10):950-64.
- Rosner B, Colditz GA. Nurses' health study: log-incidence mathematical model of breast cancer incidence. J Natl Cancer Inst. 1996 Mar 20;88(6):359-64.
- Gail MH, Brinton LA, Byar DP, Corle DK, Green SB, Schairer C, Mulvihill JJ. Projecting individualized probabilities of developing breast cancer for white females who are being examined annually. J Natl Cancer Inst. 1989 Dec 20;81(24):1879-86.
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- Breast Cancer Risk Assessment Tool
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Models without Associated Web Sites
- Darabi H, Czene K, Zhao W, Liu J, Hall P, Humphreys K. Breast cancer risk prediction and individualised screening based on common genetic variation and breast density measurement. Breast Cancer Research: BCR. Feb 7 2012;14(1):R25.
- Banegas MP, Gail MH, LaCroix A, et al. Evaluating breast cancer risk projections for Hispanic women. Breast Cancer Res Treat. Feb 2012;132(1):347-353.
- Dai J, Hu Z, Jiang Y, Shen H, Dong J, Ma H. Breast cancer risk assessment with five independent genetic variants and two risk factors in Chinese women. Breast Cancer Res. Jan 23 2012;14(1):R17.
- McCowan C, Donnan PT, Dewar J, Thompson A, Fahey T. Identifying suspected breast cancer: development and validation of a clinical prediction rule. The British journal of general practice: the journal of the Royal College of General Practitioners. May 2011;61(586):e205-214.
- Crooke PS, Justenhoven C, Brauch H, et al. Estrogen metabolism and exposure in a genotypic-phenotypic model for breast cancer risk prediction. Cancer epidemiology, biomarkers & prevention: a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology. Jul 2011;20(7):1502-1515.
- Wacholder S, Hartge P, Prentice R, et al. Performance of common genetic variants in breast-cancer risk models. N Engl J Med. Mar 18 2010;362(11):986-993.
- Cook NR, Rosner BA, Hankinson SE, Colditz GA. Mammographic screening and risk factors for breast cancer. Am J Epidemiol. Dec 1 2009;170(11):1422-1432.
- Lee SM, Park JH, Park HJ. Implications of systematic review for breast cancer prediction. Cancer Nurs. 2008 Sep-Oct;31(5):E40-6.
- Tice JA, Cummings SR, Smith-Bindman R, Ichikawa L, Barlow WE, Kerlikowske K. Using clinical factors and mammographic breast density to estimate breast cancer risk: development and validation of a new predictive model. Ann Intern Med. 2008 Mar 4;148(5):337-47. Summary for patients in: Ann Intern Med. 2008 Mar 4;148(5):I34.
- Rosner B, Colditz GA, Iglehart JD, Hankinson SE. Risk prediction models with incomplete data with application to prediction of estrogen receptor-positive breast cancer: prospective data from the Nurses' Health Study. Breast Cancer Res. 2008;10(4):R55.
- Chlebowski RT, Anderson GL, Lane DS, et al. Predicting risk of breast cancer in postmenopausal women by hormone receptor status. J Natl Cancer Inst. Nov 21 2007;99(22):1695-1705.
- Decarli A, Calza S, Masala G, Specchia C, Palli D, Gail MH. Gail model for prediction of absolute risk of invasive breast cancer: independent evaluation in the Florence-European Prospective Investigation Into Cancer and Nutrition cohort. J Natl Cancer Inst. Dec 6 2006;98(23):1686-1693.
- Chen J, Pee D, Ayyagari R, Graubard B, Schairer C, Byrne C, Benichou J, Gail MH. Projecting absolute invasive breast cancer risk in white women with a model that includes mammographic density. J Natl Cancer Inst. 2006 Sep 6;98(17):1215-26.
- Novotny J, Pecen L, Petruzelka L, et al. Breast cancer risk assessment in the Czech female population--an adjustment of the original Gail model. Breast Cancer Res Treat. Jan 2006;95(1):29-35.
- Tice JA, Cummings SR, Ziv E, Kerlikowske K. Mammographic breast density and the Gail model for breast cancer risk prediction in a screening population. Breast Cancer Res Treat. Nov 2005;94(2):115-122.
- Tice JA, Miike R, Adduci K, Petrakis NL, King E, Wrensch MR. Nipple aspirate fluid cytology and the Gail model for breast cancer risk assessment in a screening population. Cancer Epidemiol Biomarkers Prev. Feb 2005;14(2):324-328.
- Boyle P, Mezzetti M, La Vecchia C, Franceschi S, Decarli A, Robertson C. Contribution of three components to individual cancer risk predicting breast cancer risk in Italy. Eur J Cancer Prev. Jun 2004;13(3):183-191.
- Ueda K, Tsukuma H, Tanaka H, Ajiki W, Oshima A. Estimation of individualized probabilities of developing breast cancer for Japanese women. Breast Cancer. 2003;10(1):54-62.
- Rosner B, Colditz GA, Willett WC. Reproductive risk factors in a prospective study of breast cancer: the Nurses' Health Study. Am J Epidemiol. Apr 15 1994;139(8):819-835.
- Claus EB, Risch N, Thompson WD. Autosomal dominant inheritance of early-onset breast cancer. Implications for risk prediction. Cancer. 1994 Feb 1;73(3):643-51.
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- Claus EB, Risch N, Thompson WD. The calculation of breast cancer risk for women with a first degree family history of ovarian cancer. Breast Cancer Res Treat. 1993 Nov;28(2):115-20.
- Taplin SH, Thompson RS, Schnitzer F, Anderman C, Immanuel V. Revisions in the risk-based Breast Cancer Screening Program at Group Health Cooperative. Cancer. 1990 Aug 15;66(4):812-8. Erratum in: Cancer 1991 May 1;67(9):2400.
- Anderson DE, Badzioch MD. Risk of familial breast cancer. Cancer. 1985 Jul 15;56(2):383-7.
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- Ottman R, Pike MC, King MC, Henderson BE. Practical guide for estimating risk for familial breast cancer. Lancet. 1983 Sep 3;2(8349):556-8.
Gene Carrier Risk Status Prediction Models
Learn more about Gene Carrier Risk Status Prediction Models
These models estimate the likelihood of detecting a mutation in a cancer susceptibility gene (e.g., BRCA1 and BRCA2) in a given family or individual.
Models with Associated Web Sites
- Antoniou AC, Cunningham AP, Peto J, et al. The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions. British Journal of Cancer. Apr 22 2008;98(8):1457-1466.
- Antoniou AC, Pharoah PP, Smith P, Easton DF. The BOADICEA model of genetic susceptibility to breast and ovarian cancer. Br J Cancer. 2004 Oct 18;91(8):1580-90.
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- Introduction to BOADICEA
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- Berry DA, Iversen ES Jr, Gudbjartsson DF, Hiller EH, Garber JE, Peshkin BN, Lerman C, Watson P, Lynch HT, Hilsenbeck SG, Rubinstein WS, Hughes KS, Parmigiani G. BRCAPRO validation, sensitivity of genetic testing of BRCA1/BRCA2, and prevalence of other breast cancer susceptibility genes. J Clin Oncol. 2002 Jun 1;20(11):2701-12.
- Parmigiani G, Berry D, Aguilar O. Determining carrier probabilities for breast cancer-susceptibility genes BRCA1 and BRCA2. Am J Hum Genet. 1998 Jan;62(1):145-58.
- Frank TS, Deffenbaugh AM, Reid JE, Hulick M, Ward BE, Lingenfelter B, Gumpper KL, Scholl T, Tavtigian SV, Pruss DR, Critchfield GC. Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals. J Clin Oncol. 2002 Mar 15;20(6):1480-90.
- Frank TS, Manley SA, Olopade OI, Cummings S, Garber JE, Bernhardt B, Antman K, Russo D, Wood ME, Mullineau L, Isaacs C, Peshkin B, Buys S, Venne V, Rowley PT, Loader S, Offit K, Robson M, Hampel H, Brener D, Winer EP, Clark S, Weber B, Strong LC, Thomas A, et al. Sequence analysis of BRCA1 and BRCA2: correlation of mutations with family history and ovarian cancer risk. J Clin Oncol. 1998 Jul;16(7):2417-25.
Models without Associated Web Sites
- Biswas S, Tankhiwale N, Blackford A, et al. Assessing the added value of breast tumor markers in genetic risk prediction model BRCAPRO. Breast Cancer Res Treat. Jan 21 2012.
- Evans DG, Eccles DM, Rahman N, Young K, Bulman M, Amir E, Shenton A, Howell A, Lalloo F. A new scoring system for the chances of identifying a BRCA1/2 mutation outperforms existing models including BRCAPRO. J Med Genet. 2004 Jun;41(6):474-80.
- Apicella C, Andrews L, Hodgson SV, Fisher SA, Lewis CM, Solomon E, Tucker K, Friedlander M, Bankier A, Southey MC, Venter DJ, Hopper JL. Log odds of carrying an Ancestral Mutation in BRCA1 or BRCA2 for a Defined personal and family history in an Ashkenazi Jewish woman (LAMBDA). Breast Cancer Res. 2003;5(6):R206-16.
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- Jonker MA, Jacobi CE, Hoogendoorn WE, Nagelkerke NJ, de Bock GH, van Houwelingen JC. Modeling familial clustered breast cancer using published data. Cancer Epidemiol Biomarkers Prev. 2003 Dec;12(12):1479-85.
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- de la Hoya M, Osorio A, Godino J, Sulleiro S, Tosar A, Perez-Segura P, Fernandez C, Rodriguez R, Diaz-Rubio E, Benitez J, Devilee P, Caldes T. Association between BRCA1 and BRCA2 mutations and cancer phenotype in Spanish breast/ovarian cancer families: implications for genetic testing. Int J Cancer. 2002 Feb 1;97(4):466-71.
- Antoniou AC, Pharoah PD, McMullan G, Day NE, Stratton MR, Peto J, Ponder BJ, Easton DF. A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes. Br J Cancer. 2002 Jan 7;86(1):76-83.
- Vahteristo P, Eerola H, Tamminen A, Blomqvist C, Nevanlinna H. A probability model for predicting BRCA1 and BRCA2 mutations in breast and breast-ovarian cancer families. Br J Cancer. 2001 Mar 2;84(5):704-8.
- Hartge P, Struewing JP, Wacholder S, Brody LC, Tucker MA. The prevalence of common BRCA1 and BRCA2 mutations among Ashkenazi Jews. Am J Hum Genet. 1999 Apr;64(4):963-70.
- Couch FJ, DeShano ML, Blackwood MA, Calzone K, Stopfer J, Campeau L, Ganguly A, Rebbeck T, Weber BL. BRCA1 mutations in women attending clinics that evaluate the risk of breast cancer. N Engl J Med. 1997 May 15;336(20):1409-15.
- Shattuck-Eidens D, Oliphant A, McClure M, McBride C, Gupte J, Rubano T, Pruss D, Tavtigian SV, Teng DH, Adey N, Staebell M, Gumpper K, Lundstrom R, Hulick M, Kelly M, Holmen J, Lingenfelter B, Manley S, Fujimura F, Luce M, Ward B, Cannon-Albright L, Steele L, Offit K, Thomas A, et al. BRCA1 sequence analysis in women at high risk for susceptibility mutations. Risk factor analysis and implications for genetic testing. JAMA. 1997 Oct 15;278(15):1242-50.
Risk Prediction of Women at High Risk
- Fisher TJ, Kirk J, Hopper JL, Godding R, Burgemeister FC. A simple tool for identifying unaffected women at a moderately increased or potentially high risk of breast cancer based on their family history. Breast. 2003 Apr;12(2):120-7.
- Gilpin CA, Carson N, Hunter AG. A preliminary validation of a family history assessment form to select women at risk for breast or ovarian cancer for referral to a genetics center. Clin Genet. 2000 Oct;58(4):299-308.
