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Cancer Genetics Risk Assessment and Counseling (PDQ®): Genetics - Health Professional Information [NCI] - Components of the Risk Assessment Process


In spite of these limitations, disease-specific cumulative risk estimates are most often employed in clinical settings. These estimates usually provide risk for a given time interval and can be anchored to cumulative risks of other health conditions in a given population (e.g., the 5-year risk by the Gail model).[63,66] Cumulative risk models have limitations that may underestimate or overestimate risk. For example, the Gail model excludes paternal family histories of breast cancer.[60] Furthermore, many of these models were constructed from data derived from predominately Caucasian populations and may have limited validity when used to estimate risk in other ethnicities.[67]

Cumulative risk estimates are best used when evidence of other underlying significant risk factors have been ruled out. Careful evaluation of an individual's personal health and family history can identify other confounding risk factors that may outweigh a risk estimate derived from a cumulative risk model. For example, a woman with a prior biopsy showing lobular carcinoma in situ (LCIS) whose mother was diagnosed with breast cancer at age 65 years has a greater lifetime risk from her history of LCIS than her cumulative lifetime risk of breast cancer based on one first-degree relative.[68,69] In this circumstance, recommendations for cancer risk management would be based on the risk associated with her LCIS. Unfortunately, there is no reliable method for combining all of an individual's relevant risk factors for an accurate absolute cancer risk estimate, nor are individual risk factors additive.

In summary, careful ascertainment and review of personal health and cancer family history are essential adjuncts to the use of prior probability models and cancer risk assessment models to assure that critical elements influencing risk calculations are considered.[59] Influencing factors include the following:

  • Differential diagnosis that is consistent with the personal and cancer family history.
  • Consideration of factors that influence how informative the family history may be.
  • Population that is best suited for the use of the model.
  • Tumor-specific features that may be suspicious for an inherited predisposition or modify individual cancer risk predictions.
  • Model-specific limitations that can overestimate or underestimate calculations.[62]

A number of investigators are developing health care provider decision support tools such as the Genetic Risk Assessment on the Internet with Decision Support (GRAIDS),[70] but at this time, clinical judgment remains a key component of any prior probability or absolute cancer risk estimation.[59]


  1. American College of Medical Genetics.: Genetic susceptibility to breast and ovarian cancer: assessment, counseling and testing guidelines. New York: New York State Department of Health, American College of Medical Genetics Foundation, 1999. Also available online. Last accessed February 04, 2013.
  2. McKinnon WC, Baty BJ, Bennett RL, et al.: Predisposition genetic testing for late-onset disorders in adults. A position paper of the National Society of Genetic Counselors. JAMA 278 (15): 1217-20, 1997.
  3. Marymee K, Dolan CR, Pagon RA, et al.: Development of the critical elements of genetic evaluation and genetic counseling for genetic professionals and perinatologists in Washington state. J Genet Couns 7 (2): 133-165, 1998.
  4. Riley BD, Culver JO, Skrzynia C, et al.: Essential elements of genetic cancer risk assessment, counseling, and testing: updated recommendations of the National Society of Genetic Counselors. J Genet Couns 21 (2): 151-61, 2012.
  5. Robson ME, Storm CD, Weitzel J, et al.: American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. J Clin Oncol 28 (5): 893-901, 2010.
  6. Berliner JL, Fay AM; Practice Issues Subcommittee of the National Society of Genetic Counselors' Familial Cancer Risk Counseling Special Interest Group.: Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National Society of Genetic Counselors. J Genet Couns 16 (3): 241-60, 2007.
  7. Summaries for patients. Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility: U.S. Preventive Services Task Force recommendations. Ann Intern Med 143 (5): I47, 2005.
  8. Baum A, Friedman AL, Zakowski SG: Stress and genetic testing for disease risk. Health Psychol 16 (1): 8-19, 1997.
  9. Peters JA, Hoskins L, Prindiville S, et al.: Evolution of the colored eco-genetic relationship map (CEGRM) for assessing social functioning in women in hereditary breast-ovarian (HBOC) families. J Genet Couns 15 (6): 477-89, 2006.
  10. Peters JA, Kenen R, Giusti R, et al.: Exploratory study of the feasibility and utility of the colored eco-genetic relationship map (CEGRM) in women at high genetic risk of developing breast cancer. Am J Med Genet A 130 (3): 258-64, 2004.
  11. Roter DL, Erby L, Larson S, et al.: Oral literacy demand of prenatal genetic counseling dialogue: Predictors of learning. Patient Educ Couns 75 (3): 392-7, 2009.
  12. Lea DH, Kaphingst KA, Bowen D, et al.: Communicating genetic and genomic information: health literacy and numeracy considerations. Public Health Genomics 14 (4-5): 279-89, 2011.
  13. Pilarski R: Risk perception among women at risk for hereditary breast and ovarian cancer. J Genet Couns 18 (4): 303-12, 2009.
  14. Sivell S, Elwyn G, Gaff CL, et al.: How risk is perceived, constructed and interpreted by clients in clinical genetics, and the effects on decision making: systematic review. J Genet Couns 17 (1): 30-63, 2008.
  15. Street RL Jr: Mediated consumer-provider communication in cancer care: the empowering potential of new technologies. Patient Educ Couns 50 (1): 99-104, 2003.
  16. Walter FM, Emery J, Braithwaite D, et al.: Lay understanding of familial risk of common chronic diseases: a systematic review and synthesis of qualitative research. Ann Fam Med 2 (6): 583-94, 2004 Nov-Dec.
  17. McAllister M: Predictive genetic testing and beyond: a theory of engagement. J Health Psychol 7 (5): 491-508, 2002.
  18. Henderson BJ, Maguire BT: Three lay mental models of disease inheritance. Soc Sci Med 50 (2): 293-301, 2000.
  19. Richards M, Ponder M: Lay understanding of genetics: a test of a hypothesis. J Med Genet 33 (12): 1032-6, 1996.
  20. Price MA, Butow PN, Lo SK, et al.: Predictors of cancer worry in unaffected women from high risk breast cancer families: risk perception is not the primary issue. J Genet Couns 16 (5): 635-44, 2007.
  21. Hay JL, Meischke HW, Bowen DJ, et al.: Anticipating dissemination of cancer genomics in public health: a theoretical approach to psychosocial and behavioral challenges. Ann Behav Med 34 (3): 275-86, 2007 Nov-Dec.
  22. Rimer BK, Schildkraut JM, Lerman C, et al.: Participation in a women's breast cancer risk counseling trial. Who participates? Who declines? High Risk Breast Cancer Consortium. Cancer 77 (11): 2348-55, 1996.
  23. Evans DG, Burnell LD, Hopwood P, et al.: Perception of risk in women with a family history of breast cancer. Br J Cancer 67 (3): 612-4, 1993.
  24. Kash KM, Holland JC, Halper MS, et al.: Psychological distress and surveillance behaviors of women with a family history of breast cancer. J Natl Cancer Inst 84 (1): 24-30, 1992.
  25. Davis S, Stewart S, Bloom J: Increasing the accuracy of perceived breast cancer risk: results from a randomized trial with Cancer Information Service callers. Prev Med 39 (1): 64-73, 2004.
  26. Emmons KM, Kalkbrenner KJ, Klar N, et al.: Behavioral risk factors among women presenting for genetic testing. Cancer Epidemiol Biomarkers Prev 9 (1): 89-94, 2000.
  27. Kelly KM, Shedlosky-Shoemaker R, Porter K, et al.: Cancer family history reporting: impact of method and psychosocial factors. J Genet Couns 16 (3): 373-82, 2007.
  28. Armel SR, McCuaig J, Finch A, et al.: The effectiveness of family history questionnaires in cancer genetic counseling. J Genet Couns 18 (4): 366-78, 2009.
  29. Appleby-Tagoe JH, Foulkes WD, Palma L: Reading between the lines: a comparison of responders and non-responders to a family history questionnaire and implications for cancer genetic counselling. J Genet Couns 21 (2): 273-91, 2012.
  30. Vogel TJ, Stoops K, Bennett RL, et al.: A self-administered family history questionnaire improves identification of women who warrant referral to genetic counseling for hereditary cancer risk. Gynecol Oncol 125 (3): 693-8, 2012.
  31. Bennett RL, Steinhaus KA, Uhrich SB, et al.: Recommendations for standardized human pedigree nomenclature. Pedigree Standardization Task Force of the National Society of Genetic Counselors. Am J Hum Genet 56 (3): 745-52, 1995.
  32. Bennett RL, French KS, Resta RG, et al.: Standardized human pedigree nomenclature: update and assessment of the recommendations of the National Society of Genetic Counselors. J Genet Couns 17 (5): 424-33, 2008.
  33. Wang C, Gallo RE, Fleisher L, et al.: Literacy assessment of family health history tools for public health prevention. Public Health Genomics 14 (4-5): 222-37, 2011.
  34. Schneider K: Collection and interpretation of cancer histories. In: Schneider KA: Counseling About Cancer: Strategies for Genetic Counseling. 2nd ed. New York, NY: Wiley-Liss, 2002, pp 129-166.
  35. Wideroff L, Garceau AO, Greene MH, et al.: Coherence and completeness of population-based family cancer reports. Cancer Epidemiol Biomarkers Prev 19 (3): 799-810, 2010.
  36. Mitchell RJ, Brewster D, Campbell H, et al.: Accuracy of reporting of family history of colorectal cancer. Gut 53 (2): 291-5, 2004.
  37. Schneider KA, DiGianni LM, Patenaude AF, et al.: Accuracy of cancer family histories: comparison of two breast cancer syndromes. Genet Test 8 (3): 222-8, 2004.
  38. Love RR, Evans AM, Josten DM: The accuracy of patient reports of a family history of cancer. J Chronic Dis 38 (4): 289-93, 1985.
  39. Douglas FS, O'Dair LC, Robinson M, et al.: The accuracy of diagnoses as reported in families with cancer: a retrospective study. J Med Genet 36 (4): 309-12, 1999.
  40. Sijmons RH, Boonstra AE, Reefhuis J, et al.: Accuracy of family history of cancer: clinical genetic implications. Eur J Hum Genet 8 (3): 181-6, 2000.
  41. Mai PL, Garceau AO, Graubard BI, et al.: Confirmation of family cancer history reported in a population-based survey. J Natl Cancer Inst 103 (10): 788-97, 2011.
  42. Qureshi N, Wilson B, Santaguida P, et al.: Collection and Use of Cancer Family History in Primary Care. Evidence Report/Technology Assessment No. 159. Rockville,Md: Agency for Healthcare Research and Quality, 2007. AHRQ Pub No. 08-E001.
  43. Murff HJ, Spigel DR, Syngal S: Does this patient have a family history of cancer? An evidence-based analysis of the accuracy of family cancer history. JAMA 292 (12): 1480-9, 2004.
  44. Evans DG, Kerr B, Cade D, et al.: Fictitious breast cancer family history. Lancet 348 (9033): 1034, 1996.
  45. Katki HA: Incorporating medical interventions into carrier probability estimation for genetic counseling. BMC Med Genet 8: 13, 2007.
  46. Ziogas A, Horick NK, Kinney AY, et al.: Clinically relevant changes in family history of cancer over time. JAMA 306 (2): 172-8, 2011.
  47. Lancaster JM, Powell CB, Kauff ND, et al.: Society of Gynecologic Oncologists Education Committee statement on risk assessment for inherited gynecologic cancer predispositions. Gynecol Oncol 107 (2): 159-62, 2007.
  48. Hodgson SV, Maher ER: A Practical Guide to Human Cancer Genetics. Cambridge, UK: Cambridge University Press, 1993.
  49. Mulvihill JJ: Catalog of Human Cancer Genes: McKusick's Mendelian Inheritance in Man for Clinical and Research Oncologists. Baltimore, Md: Johns Hopkins University Press, 1999.
  50. Offit K: Clinical Cancer Genetics: Risk Counseling and Management. New York, NY: John Wiley and Sons, 1998.
  51. Lindor NM, McMaster ML, Lindor CJ, et al.: Concise handbook of familial cancer susceptibility syndromes - second edition. J Natl Cancer Inst Monogr (38): 1-93, 2008.
  52. Lewin B: Genes VII. Oxford, NY: Oxford University Press, 2000.
  53. Gelehrter TD, Collins FS, Ginsburg D: Principles of Medical Genetics. 2nd ed. Baltimore, Md: Williams and Wilkins, 1998.
  54. MacDonald DJ, Lessick M: Hereditary cancers in children and ethical and psychosocial implications. J Pediatr Nurs 15 (4): 217-25, 2000.
  55. Harper PS: Practical Genetic Counselling. 3rd ed. London: Wright, 1988.
  56. Stratton MR: Exploring the genomes of cancer cells: progress and promise. Science 331 (6024): 1553-8, 2011.
  57. Campeau PM, Foulkes WD, Tischkowitz MD: Hereditary breast cancer: new genetic developments, new therapeutic avenues. Hum Genet 124 (1): 31-42, 2008.
  58. Freedman AN, Seminara D, Gail MH, et al.: Cancer risk prediction models: a workshop on development, evaluation, and application. J Natl Cancer Inst 97 (10): 715-23, 2005.
  59. Lindor NM, Lindor RA, Apicella C, et al.: Predicting BRCA1 and BRCA2 gene mutation carriers: comparison of LAMBDA, BRCAPRO, Myriad II, and modified Couch models. Fam Cancer 6 (4): 473-82, 2007.
  60. Domchek SM, Eisen A, Calzone K, et al.: Application of breast cancer risk prediction models in clinical practice. J Clin Oncol 21 (4): 593-601, 2003.
  61. Weitzel JN, Lagos VI, Cullinane CA, et al.: Limited family structure and BRCA gene mutation status in single cases of breast cancer. JAMA 297 (23): 2587-95, 2007.
  62. Kauff ND, Offit K: Modeling genetic risk of breast cancer. JAMA 297 (23): 2637-9, 2007.
  63. Offit K, Brown K: Quantitating familial cancer risk: a resource for clinical oncologists. J Clin Oncol 12 (8): 1724-36, 1994.
  64. Apicella C, Andrews L, Hodgson SV, et al.: 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 5 (6): R206-16, 2003.
  65. Chenevix-Trench G, Milne RL, Antoniou AC, et al.: An international initiative to identify genetic modifiers of cancer risk in BRCA1 and BRCA2 mutation carriers: the Consortium of Investigators of Modifiers of BRCA1 and BRCA2 (CIMBA). Breast Cancer Res 9 (2): 104, 2007.
  66. Hoskins KF, Stopfer JE, Calzone KA, et al.: Assessment and counseling for women with a family history of breast cancer. A guide for clinicians. JAMA 273 (7): 577-85, 1995.
  67. Adams-Campbell LL, Makambi KH, Palmer JR, et al.: Diagnostic accuracy of the Gail model in the Black Women's Health Study. Breast J 13 (4): 332-6, 2007 Jul-Aug.
  68. Fisher ER, Land SR, Fisher B, et al.: Pathologic findings from the National Surgical Adjuvant Breast and Bowel Project: twelve-year observations concerning lobular carcinoma in situ. Cancer 100 (2): 238-44, 2004.
  69. Chuba PJ, Hamre MR, Yap J, et al.: Bilateral risk for subsequent breast cancer after lobular carcinoma-in-situ: analysis of surveillance, epidemiology, and end results data. J Clin Oncol 23 (24): 5534-41, 2005.
  70. Emery J, Morris H, Goodchild R, et al.: The GRAIDS Trial: a cluster randomised controlled trial of computer decision support for the management of familial cancer risk in primary care. Br J Cancer 97 (4): 486-93, 2007.

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Last Updated: February 25, 2014
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