link
Bookmarks
Risk Assessment Models
Wendie A. Berg, MD, PhD, FACR, FSBI; Lisa Madlensky, PhD, CGC
To access 4,300 diagnoses written by the world's leading experts in radiology, please log in or subscribe.Log inSubscribe
1
0
4
0

KEY FACTS

  • Terminology

    • Clinical Issues

      • Diagnostic Checklist

        TERMINOLOGY

        • Definitions

          • Models predict risk of carrying pathogenic mutation in either BRCA1 or BRCA2, risk of developing invasive breast cancer, or both
            • Candidate for more intensive screening ± risk reduction strategies if ≥ 10-year life expectancy
            • When pathogenic genetic mutation is identified, consider increased surveillance &/or risk reduction interventions
          • Relative risk (RR): Prevalence of breast cancer in population with given risk factor divided by prevalence of breast cancer in population without that risk factor
            • e.g., RR of 1.2 = 20% greater risk of developing breast cancer breast cancer in population with that risk factor vs. 1.0 risk without
          • Odds ratio (OR): ~ equivalent to relative risk
          • Absolute risk: Absolute expected rate of developing breast cancer within specified interval of time; more useful for discussions with patients
            • Consider 5-year, 10-year, and lifetime horizons
            • 5-year and 10-year risks ↑ with ↑ age
            • Lifetime risk (LTR) ↓ with ↑ age as fewer years remain to develop breast cancer
              • Reassess risk periodically over time
          • High risk has varying definitions by context
            • Risk reduction strategies, e.g., tamoxifen (TAM) (or raloxifene in postmenopausal women) in appropriate women with at least one of following (NSABP-P1)
              • ≥ 1.66% 5-year risk by Gail model; personal history of LCIS; age ≥ 60 years
            • MR screening
              • > 20% lifetime risk by model based largely on family history that also predicts risk of mutation carrier (i.e., other than Gail model)
              • Known pathogenic mutation in BRCA1 or BRCA2 or 1st-degree relative but untested
              • Patients with Li-Fraumeni (TP53 mutation), Cowden (PTEN mutation), Peutz-Jeghers (STK11 mutation) syndrome or with 1st-degree relative with syndrome (if genetic testing has not been performed)
              • Hereditary diffuse gastric cancer syndrome (CDH1 mutation): Increased risk of lobular breast cancer
              • Personal history of thoracic XRT between age 10-30 years and at least 8 years prior but not before age 25
            • Genetic testing for those with ↑ likelihood of carrying pathogenic mutation in BRCA1 or BRCA2 or other cancer susceptibility genes; population testing now available
              • See current NCCN guidelines

        IMAGING

        • Mammographic Findings

          • MR Findings

            • Imaging Recommendations

              CLINICAL ISSUES

              • Demographics

                • Gail Model

                  • Breast Cancer Surveillance Consortium Model

                    • Claus Model

                      • Tyrer-Cuzick Model (IBIS)

                        • BRCAPRO

                          • Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm

                            DIAGNOSTIC CHECKLIST

                            • Consider

                              Selected References

                              1. National Comprehensive Cancer Network. https://www.nccn.org/professionals/physician_gls/pdf/genetics_screening.pdf. Accessed January 7, 2019
                              2. Mavaddat N et al: Polygenic risk scores for prediction of breast cancer and breast cancer subtypes. Am J Hum Genet. 104(1):21-34, 2019
                              3. Brentnall AR et al: Long-term accuracy of breast cancer risk assessment combining classic risk factors and breast density. JAMA Oncol. e180174, 2018
                              4. Gail MH et al: Breast Cancer Risk Model Requirements for Counseling, Prevention, and Screening. J Natl Cancer Inst. 110(9):994-1002, 2018
                              5. Lee CS et al: Risk Stratification for Screening Mammography: Benefits and Harms. AJR Am J Roentgenol. 1-9, 2018
                              6. Lee AJ et al: Incorporating truncating variants in PALB2, CHEK2, and ATM into the BOADICEA breast cancer risk model. Genet Med. 18(12):1190-1198, 2016
                              7. Shieh Y et al: Breast cancer risk prediction using a clinical risk model and polygenic risk score. Breast Cancer Res Treat. 159(3):513-25, 2016
                              8. Brentnall AR et al: Mammographic density adds accuracy to both the Tyrer-Cuzick and Gail breast cancer risk models in a prospective UK screening cohort. Breast Cancer Res. 17(1):147, 2015
                              9. Cuzick J et al: Impact of preventive therapy on the risk of breast cancer among women with benign breast disease. Breast. 24 Suppl 2:S51-5, 2015
                              10. Mazzola E et al: Recent Enhancements to the Genetic Risk Prediction Model BRCAPRO. Cancer Inform. 14(Suppl 2):147-57, 2015
                              11. Vachon CM et al: The contributions of breast density and common genetic variation to breast cancer risk. J Natl Cancer Inst. 107(5), 2015
                              12. Ozanne EM et al: Which risk model to use? Clinical implications of the ACS MRI screening guidelines. Cancer Epidemiol Biomarkers Prev. 22(1):146-9, 2013
                              13. Quante AS et al: Breast cancer risk assessment across the risk continuum: genetic and nongenetic risk factors contributing to differential model performance. Breast Cancer Res. 14(6):R144, 2012
                              14. Amir E et al: Assessing women at high risk of breast cancer: a review of risk assessment models. J Natl Cancer Inst. 102(10):680-91, 2010
                              15. Antoniou AC et al: The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions. Br J Cancer. 98(8):1457-66, 2008
                              16. Tice JA et al: Using clinical factors and mammographic breast density to estimate breast cancer risk: development and validation of a new predictive model. Ann Intern Med. 148(5):337-47, 2008
                              17. Wu AH et al: Epidemiology of soy exposures and breast cancer risk. Br J Cancer. 98(1):9-14, 2008
                              18. Ahn J et al: Adiposity, adult weight change, and postmenopausal breast cancer risk. Arch Intern Med. 167(19):2091-102, 2007
                              19. Chen S et al: Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol. 25(11):1329-33, 2007
                              20. Saslow D et al: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. CA Cancer J Clin. 2007 Mar-Apr;57(2):75-89. Erratum in: CA Cancer J Clin. 57(3):185, 2007
                              21. Chen J et al: Projecting absolute invasive breast cancer risk in white women with a model that includes mammographic density. J Natl Cancer Inst. 98(17):1215-26, 2006
                              22. Plevritis SK et al: Cost-effectiveness of screening BRCA1/2 mutation carriers with breast magnetic resonance imaging. JAMA. 295(20):2374-84, 2006
                              23. Harvey JA et al: Quantitative assessment of mammographic breast density: relationship with breast cancer risk. Radiology. 230(1):29-41, 2004
                              24. Amir E et al: Evaluation of breast cancer risk assessment packages in the family history evaluation and screening programme. J Med Genet. 40(11):807-14, 2003
                              25. Berry DA et al: BRCAPRO validation, sensitivity of genetic testing of BRCA1/BRCA2, and prevalence of other breast cancer susceptibility genes. J Clin Oncol. 20(11):2701-12, 2002
                              26. Collaborative Group on Hormonal Factors in Breast Cancer: Familial breast cancer: collaborative reanalysis of individual data from 52 epidemiological studies including 58,209 women with breast cancer and 101,986 women without the disease. Lancet. 358(9291):1389-99, 2001
                              27. Singletary KW et al: Alcohol and breast cancer: review of epidemiologic and experimental evidence and potential mechanisms. JAMA. 286(17):2143-51, 2001
                              28. Ford D et al: Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet. 62(3):676-89, 1998
                              29. Roa BB et al: Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2. Nat Genet. 14(2):185-7, 1996
                              30. Claus EB et al: Autosomal dominant inheritance of early-onset breast cancer. Implications for risk prediction. Cancer. 73(3):643-51, 1994
                              Related Anatomy
                              Loading...
                              Related Differential Diagnoses
                              Loading...
                              References
                              Tables

                              Tables

                              KEY FACTS

                              • Terminology

                                • Clinical Issues

                                  • Diagnostic Checklist

                                    TERMINOLOGY

                                    • Definitions

                                      • Models predict risk of carrying pathogenic mutation in either BRCA1 or BRCA2, risk of developing invasive breast cancer, or both
                                        • Candidate for more intensive screening ± risk reduction strategies if ≥ 10-year life expectancy
                                        • When pathogenic genetic mutation is identified, consider increased surveillance &/or risk reduction interventions
                                      • Relative risk (RR): Prevalence of breast cancer in population with given risk factor divided by prevalence of breast cancer in population without that risk factor
                                        • e.g., RR of 1.2 = 20% greater risk of developing breast cancer breast cancer in population with that risk factor vs. 1.0 risk without
                                      • Odds ratio (OR): ~ equivalent to relative risk
                                      • Absolute risk: Absolute expected rate of developing breast cancer within specified interval of time; more useful for discussions with patients
                                        • Consider 5-year, 10-year, and lifetime horizons
                                        • 5-year and 10-year risks ↑ with ↑ age
                                        • Lifetime risk (LTR) ↓ with ↑ age as fewer years remain to develop breast cancer
                                          • Reassess risk periodically over time
                                      • High risk has varying definitions by context
                                        • Risk reduction strategies, e.g., tamoxifen (TAM) (or raloxifene in postmenopausal women) in appropriate women with at least one of following (NSABP-P1)
                                          • ≥ 1.66% 5-year risk by Gail model; personal history of LCIS; age ≥ 60 years
                                        • MR screening
                                          • > 20% lifetime risk by model based largely on family history that also predicts risk of mutation carrier (i.e., other than Gail model)
                                          • Known pathogenic mutation in BRCA1 or BRCA2 or 1st-degree relative but untested
                                          • Patients with Li-Fraumeni (TP53 mutation), Cowden (PTEN mutation), Peutz-Jeghers (STK11 mutation) syndrome or with 1st-degree relative with syndrome (if genetic testing has not been performed)
                                          • Hereditary diffuse gastric cancer syndrome (CDH1 mutation): Increased risk of lobular breast cancer
                                          • Personal history of thoracic XRT between age 10-30 years and at least 8 years prior but not before age 25
                                        • Genetic testing for those with ↑ likelihood of carrying pathogenic mutation in BRCA1 or BRCA2 or other cancer susceptibility genes; population testing now available
                                          • See current NCCN guidelines

                                    IMAGING

                                    • Mammographic Findings

                                      • MR Findings

                                        • Imaging Recommendations

                                          CLINICAL ISSUES

                                          • Demographics

                                            • Gail Model

                                              • Breast Cancer Surveillance Consortium Model

                                                • Claus Model

                                                  • Tyrer-Cuzick Model (IBIS)

                                                    • BRCAPRO

                                                      • Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm

                                                        DIAGNOSTIC CHECKLIST

                                                        • Consider

                                                          Selected References

                                                          1. National Comprehensive Cancer Network. https://www.nccn.org/professionals/physician_gls/pdf/genetics_screening.pdf. Accessed January 7, 2019
                                                          2. Mavaddat N et al: Polygenic risk scores for prediction of breast cancer and breast cancer subtypes. Am J Hum Genet. 104(1):21-34, 2019
                                                          3. Brentnall AR et al: Long-term accuracy of breast cancer risk assessment combining classic risk factors and breast density. JAMA Oncol. e180174, 2018
                                                          4. Gail MH et al: Breast Cancer Risk Model Requirements for Counseling, Prevention, and Screening. J Natl Cancer Inst. 110(9):994-1002, 2018
                                                          5. Lee CS et al: Risk Stratification for Screening Mammography: Benefits and Harms. AJR Am J Roentgenol. 1-9, 2018
                                                          6. Lee AJ et al: Incorporating truncating variants in PALB2, CHEK2, and ATM into the BOADICEA breast cancer risk model. Genet Med. 18(12):1190-1198, 2016
                                                          7. Shieh Y et al: Breast cancer risk prediction using a clinical risk model and polygenic risk score. Breast Cancer Res Treat. 159(3):513-25, 2016
                                                          8. Brentnall AR et al: Mammographic density adds accuracy to both the Tyrer-Cuzick and Gail breast cancer risk models in a prospective UK screening cohort. Breast Cancer Res. 17(1):147, 2015
                                                          9. Cuzick J et al: Impact of preventive therapy on the risk of breast cancer among women with benign breast disease. Breast. 24 Suppl 2:S51-5, 2015
                                                          10. Mazzola E et al: Recent Enhancements to the Genetic Risk Prediction Model BRCAPRO. Cancer Inform. 14(Suppl 2):147-57, 2015
                                                          11. Vachon CM et al: The contributions of breast density and common genetic variation to breast cancer risk. J Natl Cancer Inst. 107(5), 2015
                                                          12. Ozanne EM et al: Which risk model to use? Clinical implications of the ACS MRI screening guidelines. Cancer Epidemiol Biomarkers Prev. 22(1):146-9, 2013
                                                          13. Quante AS et al: Breast cancer risk assessment across the risk continuum: genetic and nongenetic risk factors contributing to differential model performance. Breast Cancer Res. 14(6):R144, 2012
                                                          14. Amir E et al: Assessing women at high risk of breast cancer: a review of risk assessment models. J Natl Cancer Inst. 102(10):680-91, 2010
                                                          15. Antoniou AC et al: The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions. Br J Cancer. 98(8):1457-66, 2008
                                                          16. Tice JA et al: Using clinical factors and mammographic breast density to estimate breast cancer risk: development and validation of a new predictive model. Ann Intern Med. 148(5):337-47, 2008
                                                          17. Wu AH et al: Epidemiology of soy exposures and breast cancer risk. Br J Cancer. 98(1):9-14, 2008
                                                          18. Ahn J et al: Adiposity, adult weight change, and postmenopausal breast cancer risk. Arch Intern Med. 167(19):2091-102, 2007
                                                          19. Chen S et al: Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol. 25(11):1329-33, 2007
                                                          20. Saslow D et al: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. CA Cancer J Clin. 2007 Mar-Apr;57(2):75-89. Erratum in: CA Cancer J Clin. 57(3):185, 2007
                                                          21. Chen J et al: Projecting absolute invasive breast cancer risk in white women with a model that includes mammographic density. J Natl Cancer Inst. 98(17):1215-26, 2006
                                                          22. Plevritis SK et al: Cost-effectiveness of screening BRCA1/2 mutation carriers with breast magnetic resonance imaging. JAMA. 295(20):2374-84, 2006
                                                          23. Harvey JA et al: Quantitative assessment of mammographic breast density: relationship with breast cancer risk. Radiology. 230(1):29-41, 2004
                                                          24. Amir E et al: Evaluation of breast cancer risk assessment packages in the family history evaluation and screening programme. J Med Genet. 40(11):807-14, 2003
                                                          25. Berry DA et al: BRCAPRO validation, sensitivity of genetic testing of BRCA1/BRCA2, and prevalence of other breast cancer susceptibility genes. J Clin Oncol. 20(11):2701-12, 2002
                                                          26. Collaborative Group on Hormonal Factors in Breast Cancer: Familial breast cancer: collaborative reanalysis of individual data from 52 epidemiological studies including 58,209 women with breast cancer and 101,986 women without the disease. Lancet. 358(9291):1389-99, 2001
                                                          27. Singletary KW et al: Alcohol and breast cancer: review of epidemiologic and experimental evidence and potential mechanisms. JAMA. 286(17):2143-51, 2001
                                                          28. Ford D et al: Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet. 62(3):676-89, 1998
                                                          29. Roa BB et al: Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2. Nat Genet. 14(2):185-7, 1996
                                                          30. Claus EB et al: Autosomal dominant inheritance of early-onset breast cancer. Implications for risk prediction. Cancer. 73(3):643-51, 1994