Journal of Genetic Counseling

, Volume 13, Issue 2, pp 83–114 | Cite as

Genetic Cancer Risk Assessment and Counseling: Recommendations of the National Society of Genetic Counselors

  • Angela Trepanier
  • Mary Ahrens
  • Wendy McKinnon
  • June Peters
  • Jill Stopfer
  • Sherry Campbell Grumet
  • Susan Manley
  • Julie O. Culver
  • Ronald Acton
  • Joy Larsen-Haidle
  • Lori Ann Correia
  • Robin Bennett
  • Barbara Pettersen
  • Terri Diamond Ferlita
  • Josephine Wagner Costalas
  • Katherine Hunt
  • Susan Donlon
  • Cecile Skrzynia
  • Carolyn Farrell
  • Faith Callif-Daley
  • Catherine Walsh Vockley


These cancer genetic counseling recommendations describe the medical, psychosocial, and ethical ramifications of identifying at-risk individuals through cancer risk assessment with or without genetic testing. They were developed by members of the Practice Issues Subcommittee of the National Society of Genetic Counselors Cancer Genetic Counseling Special Interest Group. The information contained in this document is derived from extensivereview of the current literature on cancer genetic risk assessment and counseling as well as the personal expertise of genetic counselors specializing in cancer genetics. The recommendations are intended to provid information about the process of genetic counseling and risk assessment for hereditary cancer disorders rather than specific information about individual syndromes. Key components include the intake (medical and family histories), psychosocial assessment (assessment of risk perception), cancer risk assessment (determination and communication of risk), molecular testing for hereditary cancer syndromes (regulations, informed consent, and counseling process), and follow-up considerations. These recommendations should not be construed as dictating an exclusive course of management, nor does use of such recommendations guarantee a particular outcome. These recommendations do not displace a health care provider's professional judgment based on the clinical circumstances of a client.

cancer genetic counseling risk assessment genetic testing family history psychosocial assessment 


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  1. Aaltonen, L. A., Salovaara, R., Kristo, P., Canziana, F., Hemminki, A., Peltomaki, P., et al. (1998). Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease. N Engl J Med, 338(21), 1481-1487.Google Scholar
  2. American Cancer Society (2002). Cancer facts and figures. Scholar
  3. American College of Medical Genetics Foundation (1999). Genetic Susceptibility to Breast and Ovarian Cancer: Assessment, counseling and testing guidelines. New York: American College of Medical Genetics Foundation.Google Scholar
  4. American Society of Clinical Oncology (1996). Statement of the American Society of Clinical Oncology: Genetic testing for cancer susceptibility. J Clin Oncol, 14, 1730-1740.Google Scholar
  5. American Society of Clinical Oncology (2003). American Society of Clinical Oncology Policy Statement Update: Genetic testing for cancer susceptibility. J Clin Oncol, 21, 2397-2406.Google Scholar
  6. American Society of Human Genetics Social Issues Subcommittee on Familial Disclosure (1998). ASHG statement: Professional disclosure of familial genetic information. Am J Hum Genet, 63(3), 898-900.Google Scholar
  7. Amos, C. (1994). Identifying gene–environment interactions in cancer etiology. Cancer Bull, 46(3), 214-219.Google Scholar
  8. ASHG/ACMG Report: points to consider: Ethical, legal, and psychosocial implications of genetic testing in children and adolescents. (1995). Am J Hum Genet, 57, 1233-1241.Google Scholar
  9. Audrain, J., Schwartz, M. D., Lerman, C., Hughes, C., Peshkin, B. N., & Biesecker, B. (1998). Psychological distress in women seeking genetic counseling for breast-ovarian cancer risk: The contributions of personality and appraisal. Ann Behav Med, 19(4), 370-377.Google Scholar
  10. Baker, D. L., Schuette, J. L., & Uhlmann, W. R. (Eds.) (1998). A Guide to Genetic Counseling. New York: Wiley.Google Scholar
  11. Baum, A., Friedman, A., & Zakowski, S. (1997). Stress and genetic testing for disease risk. Health Psychol, 16(1), 8-19.Google Scholar
  12. Benichou, J., Gail, M. H., & Mulvihill, J. J. (1996). Graphs to estimate an individualized risk of breast cancer. J Clin Oncol, 14(1), 103-110.Google Scholar
  13. Benkendorf, J., Callanan, N., Grobstein, R., Schmerler, S., & Fitzgerald, K. (1992). An explication of the National Society of Genetic Counselors (NSGC) Code of Ethics. J Gen Counsel, 1(1), 31-39.Google Scholar
  14. Bennett, R. L. (1999). The Practical Guide to the Genetic Family History. New York: Wiley-Liss.Google Scholar
  15. Bennett, R. L., Steinhaus, K. A., Uhrich, S. B., O'sullivan, C. K., Resta, R. G., Lochner-Doyle, D., et al. (1995). Recommendations for standardized human pedigree nomenclature. Pedigree Standardization Task Force of the National Society of Genetic Counselors. Am J Hum Genet, 56(3), 745-752.Google Scholar
  16. Berry, D. A., Parmigiani, G., Sanchez, J., Schildkraut, J., & Winer, E. (1997). Probability of carrying a mutation of breast-ovarian cancer gene BRCA1 based on family history. J Natl Cancer Inst, 89(3), 227-238.Google Scholar
  17. Biesecker, B. B. (1997). Psychological issues in cancer genetics. Semin Oncol Nurs, 13(2), 129-134.Google Scholar
  18. Botkin, J. R., Croyle, R. T., Smith, K. R., Baty, B. J., Lerman, C., Goldgar, D. E., et al. (1996). A model protocol for evaluating the behavioral and psychosocial effects of BRCA1 testing. J Natl Cancer Inst, 88(13), 872-882.Google Scholar
  19. Burke, W., Culver, J. O., Bowen, D., Lowry, D., Durfy, S., McTiernan, A., et al. (2000). Genetic counseling for women with an intermediate family history of breast cancer. Am J Med Genet, 90(5), 361-368.Google Scholar
  20. Burke, W., Daly, M., Garber, J., Botkin, J., Kahn, M. J., Lynch, P., et al. (1997a). Recommendations for follow-up care of individuals with an inherited predisposition to cancer: II. BRCA1 and BRCA2. Cancer Genetics Studies Consortium. JAMA, 277(12), 997-1003.Google Scholar
  21. Burke, W., Petersen, G., Lynch, P., Botkin, J., Daly, M., Garber, J., et al. (1997b). Recommendations for follow-up care of individuals with an inherited predisposition to cancer. I. Hereditary nonpolyposis colon cancer. Cancer Genetics Studies Consortium. JAMA, 277(11), 915-919.Google Scholar
  22. Carpten, J., Nupponen, N., Isaacs, S., Sood, R., Robbins, C., Xu, J., et al. (2002). Germline mutations in the ribonuclease L gene in families showing linkage with HPC1. Nat Genet, 30(2), 181-184.Google Scholar
  23. Carter, B., Beaty, T., Steinberg, G., Childs, B., & Walsh, P. (1992). Mendelian inheritance of familial prostate cancer. Proc Nat Acad Sci USA, 89(8), 3367-3371.Google Scholar
  24. Chen, P. L., Sellers, T. A., Rich, S. S., Potter, J. D., & Folsom, A. R. (1994). Examination of the effect of nongenetic risk factors on the familial risk of breast cancer among relatives of postmenopausal breast cancer patients. Cancer Epidemiol Biomarkers Prev, 3(7), 549-555.Google Scholar
  25. Claus, E. B., Risch, N., & Thompson, W. D. (1991). Genetic analysis of breast cancer in the cancer and steroid hormone study. Am J Hum Genet, 48(2), 232-242.Google Scholar
  26. Claus, E., Risch, N., & Thompson, W. D. (1993). The calculation of breast cancer risk for women with a first degree family history of ovarian cancer. Breast Cancer Res Treat, 28, 115-120.Google Scholar
  27. Claus, E. B., Risch, N., & Thompson, W. D. (1994). Autosomal dominant inheritance of early-onset breast cancer. Implications for risk prediction. Cancer, 73(3), 643-651.Google Scholar
  28. Couch, F. J., DeShano, M. L., Blackwood, M. A., Calzone, K., Stopfer, J., Campeau, L., et al. (1997). BRCA1 mutations in women attending clinics that evaluate the risk of breast cancer. N Engl J Med, 336(20), 1409-1415.Google Scholar
  29. Couch, V., Lindor, N. M., Karnes, P. S., & Michels, V. V. (2000). von Hippel–Lindau disease. Mayo Clin Proc, 75(3), 265-272.Google Scholar
  30. Croyle, R. T. (1997). Psychosocial aspects of cancer genetic testing. A research clinicians update. Cancer, 80(3, suppl), 569-575.Google Scholar
  31. Croyle, R. T., & Lerman, C. (1999). Risk communication in genetic testing for cancer susceptibility. J Natl Cancer Inst Monogr (25), 59-66.Google Scholar
  32. Croyle, R. T., Smith, K. R., Botkin, J. R., Baty, B., & Nash, J. (1997). Psychological responses to BRCA1 mutation testing: Preliminary findings. Health Psychol, 16(1), 63-72.Google Scholar
  33. Dorval, M., Patenaude, A. F., Schneider, K. A., Kieffer, S. A., DiGianni, L., Kalkbrenner, K. J., et al. (2000). Anticipated versus actual emotional reactions to disclosure of results of genetic tests for cancer susceptibility: Findings from p53 and BRCA1 testing programs. J Clin Oncol, 18(10), 2135-2142.Google Scholar
  34. Douglas, F. S., O'Dair, L. C., Robinson, M., Evans, D. G., & Lynch, S. A. (1999). The accuracy of diagnoses as reported in families with cancer: A retrospective study. J Med Genet, 36(4), 309-312.Google Scholar
  35. Drovdlic, C. M., Myers, E. N., Peters, J., Baysal, B. E., Brachman, D. E., Slattery, W. H., et al. (2001). Proportion of heritable paraganglioma cases and associated clinical characteristics. The Laryngoscope, 111, 1822-1827.Google Scholar
  36. Eng, C. (2000). Will the real Cowden syndrome please stand up: Revised diagnostic criteria. J Med Genet, 37, 828-830.Google Scholar
  37. Eng, C. (2001). To be or not to BMP. Nat Genet, 28, 105-107.Google Scholar
  38. Eng, C., Brody, L. C., Wagner, T. M., Devilee, P., Vijg, J., Szabo, C., et al. (2001). Interpreting epidemiological research: Blinded comparison of methods used to estimate the prevalence of inherited mutations in BRCA1. J Med Genet, 38, 824-833.Google Scholar
  39. Eng, C., Hampel, H., & de la Chapelle, A. (2001). Genetic testing for cancer predisposition. Annu Rev Med, 52, 371-400.Google Scholar
  40. Eng, C., Mulligan, L. M., Smith, D. P., Healey, C. S., Frilling, A., Raue, F., et al. (1995). Low frequency of germline mutations in the RET proto-oncogene in patients with apparently sporadic medullary thyroid carcinoma. Clin Endocrinol, 43(1), 123-127.Google Scholar
  41. Equal Employment Opportunity Commission (1995). Compliance Manual (Vol. 2). (No. Section 902, Order 915.002).Google Scholar
  42. Euhus, D. (2001). Understanding mathematical models for breast cancer risk assessment and counseling. Breast J, 7(4), 224-232.Google Scholar
  43. Fearon, E. R., & Vogelstein, B. (1990). A genetic model for colorectal tumorigenesis. Cell, 61(5), 759-767.Google Scholar
  44. Fine, B., Baker, D. L., Fiddler, M., & Consortium, A. C. D. (1996). Practice-based competencies for accreditation of and training in graduate programs in genetic counseling. J Genet Counsel, 5(3), 113-122.Google Scholar
  45. Fleisher, L. D., & Cole, L. J. (2001). Health insurance portability and accountability act is here: What price privacy? Genet Med, 3(4), 286-289.Google Scholar
  46. Frank, T. S., Deffenbaugh, A. M., Reid, J. E., Hulick, M., Ward, B. E., et al. (2002). Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: Analysis of 10,000 individuals. J Clin Oncol, 20(6), 1480-1490.Google Scholar
  47. Frank, T. S., Manley, S. A., Olopade, O. I., Cummings, S., Garber, J. E., Bernhardt, B., et al. (2002). Sequence analysis of BRCA1 and BRCA2: Correlation of mutations with family and ovarian cancer risk. J Clin Oncol, 16(7), 2417-2425.Google Scholar
  48. Gail, M. H., Brinton, L. A., Byar, D. P., Corle, D. K., Green, S. B., Schairer, C., et al. (1989). Projecting individualized probabilities of developing breast cancer for White females who are being examined annually. J Natl Cancer Inst, 81(24), 1879-1886.Google Scholar
  49. Geller, G., Botkin, J. R., Green, M. J., Press, N., Biesecker, B. B., Wilfond, B., et al. (1997). Genetic testing for susceptibility to adult-onset cancer. The process and content of informed consent. JAMA, 277(18), 1467-1474.Google Scholar
  50. Greene, M. H. (1997). Genetics of breast cancer. Mayo Clin Proc, 72(1), 54-65.Google Scholar
  51. Greene, M. H. (1999). The genetics of hereditary melanoma and nevi. 1998 update. Cancer, 86(11, Suppl), 2464-2477.Google Scholar
  52. Gronberg, H., Wiklund, F., & Damber, J. E. (1999). Age specific risks of familial prostate carcinoma: A basis for screening recommendations in high risk populations. Cancer, 86(3), 477-483.Google Scholar
  53. Hartmann, L., Schaid, D., Woods, J., Crotty, T., Myers, J., Arnold, P., et al. (1999). Efficacy of bilateral prophylactic mastectomy in women with a family history of breast cancer. N Engl J Med, 340(2), 77-84.Google Scholar
  54. Hartmann, L., Sellers, T. A., Schaid, D., Frank, T. S., Soderberg, C., Sitta, D., et al. (2001). Efficacy of bilateral prophylactic mastectomy in BRCA1 and BRCA2 gene mutation carriers. J Natl Cancer Inst, 93(21), 1633-1637.Google Scholar
  55. Holtzman, N. A., Watson, M. S. (eds.) (1997). Promoting Safe and Effective Genetic Testing in the United States: final Report of the Task Force on Genetic Testing. National Institutes of Health/Department of Energy Working Group on Ethical, Legal and Social Implications of Human Genome Research.Google Scholar
  56. Hopwood, P. (1997). Psychological issues in cancer genetics: Current research and future priorities. Patient Educ Counsel, 32(1/2), 19-31.Google Scholar
  57. Houlston, R. S., Murday, V., Harocopos, C., Williams, C. B., & Slack, J. (1990). Screening and genetic counselling for relatives of patients with colorectal cancer in a family cancer clinic. BMJ, 301(6748), 366-368.Google Scholar
  58. Howe, J. R., Bair, J. L., Sayed, M. G., Andersen, M. R., Mitros, F. A., Peterson, G. M., et al. (2001). Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis. Nat Genet, 28, 184-187.Google Scholar
  59. Howe, J. R., Roth, S., Ringold, J. C., Summers, R., Jarvinen, H., Sistonen, P., et al. (1998). Mutations in the SMAD4/DPC4 gene in juvenile polyposis. Science, 280, 1086-1088.Google Scholar
  60. Jacobsen, P. B., Valdimarsdottier, H. B., Brown, K. L., & Offit, K. (1997). Decision-making about genetic testing among women at familial risk for breast cancer. Psychosomat Med, 59(5), 459-466.Google Scholar
  61. Kitamura, Y., Goodfellow, P. J., Shimizu, K., Nagahama, M., Ito, K., Kitagawa, W., et al. (1997). Novel germline RET proto-oncogene mutations associated with medullary thyroid carcinoma (MTC): Mutation analysis in Japanese patients with MTC. Oncogene, 14(25), 3103-3106.Google Scholar
  62. Laxova, R. (1999). Testing for cancer susceptibility genes in children. Adv Pediatr, 46, 1-40.Google Scholar
  63. Lerman, C., Biesecker, B., Benkendorf, J. L., Kerner, J., Gomez-Caminero, A., Hughes, C., et al. (1997). Controlled trial of pretest education approaches to enhance informed decision-making for BRCA1 gene testing. J Natl Cancer Inst, 89(2), 148-157.Google Scholar
  64. Lerman, C., & Croyle, R. T. (1996). Emotional and behavioral responses to genetic testing for susceptibility to cancer. Oncology (Huntington), 10(2), 191-195, 199; Discussion, 200-192.Google Scholar
  65. Lerman, C., Daly, M., Masny, A., & Balshem, A. (1994). Attitudes about genetic testing for breast-ovarian cancer susceptibility. J Clin Oncol, 12(4), 843-850.Google Scholar
  66. Lerman, C., Lustbader, E., Rimer, B., Daly, M., Miller, S., Sands, C., et al. (1995). Effects of individualized breast cancer risk counseling: A randomized trial. J Natl Cancer Inst, 87(4), 286-292.Google Scholar
  67. Lerman, C., Narod, S., Schulman, K., Hughes, C., Gomez-Caminero, A., Bonney, G., et al. (1996a). BRCA1 testing in families with hereditary breast-ovarian cancer. A prospective study of patient decision making and outcomes. JAMA, 275(24), 1885-1892.Google Scholar
  68. Lerman, C., Schwartz, M. D., Lin, T. H., Hughes, C., Narod, S., & Lynch, H. T. (1997). The influence of psychological distress on use of genetic testing for cancer risk. J Consult Clin Psychol, 65(3), 414-420.Google Scholar
  69. Lerman, C., Schwartz, M. D., Miller, S. M., Daly, M., Sands, C., & Rimer, B. K. (1996b). A randomized trial of breast cancer risk counseling: Interacting effects of counseling, educational level, and coping style. Health Psychol, 15(2), 75-83.Google Scholar
  70. Lindor, N. M., & Greene, M. H. (1998). The concise handbook of family cancer syndromes. Mayo Familial Cancer Program. J Natl Cancer Inst, 90(14), 1039-1071.Google Scholar
  71. Love, R. R., Evans, A. M., & Josten, D. M. (1985). The accuracy of patient reports of a family history of cancer. J Chronic Dis, 38(4), 289-293.Google Scholar
  72. Lynch, H., Fusaro, R., Lemon, S. J., Smyrk, T., & Lynch, J. (1997). Survey of cancer genetics: Genetic testing implications. Cancer, 80(Suppl), 523-532.Google Scholar
  73. Lynch, H. T., Drouhard, T., Vasen, H. F., Cavalieri, J., Lynch, J., Nord, S., et al. (1996). Genetic counseling in a Navajo hereditary nonpolyposis colorectal cancer kindred. Cancer, 77(1), 30-35.Google Scholar
  74. MacDonald, D., & Lessick, M. (2000). Hereditary cancers in children and ethical and psychosocial implications. J Pediatr Nurs, 15(4), 217-225.Google Scholar
  75. Maher, E. R., & Hodgson, S. V. (Eds.) (1999). A Practical Guide to Human Cancer Genetics (2nd ed.). London: Cambridge University Press.Google Scholar
  76. Marymee, K., Dolan, C. R., Pagon, R. A., Bennet, R. L., Coe, S., & Fisher, N. L. (1998). Development of critical elements of genetic evaluation and genetic counseling for genetic professionals and perinatologists in Washington State. J Genet Counsel, 7, 133-165.Google Scholar
  77. Mitchell, J. L. (1998). Cross-cultural issues in the disclosure of cancer. Cancer Pract, 6(3), 153-160.Google Scholar
  78. National Action Plan on Breast Cancer (NAPBC, 1998). Hereditary Susceptibility to Breast and Ovarian Cancer: An Outline of Fundamental Knowledge Needed by All Health Care Professionals. U.S. Department of Health and Human Services, Public Health Service, Office of Women's Health.Google Scholar
  79. National Society of Genetic Counselors (1992). Code of Ethics J Genet Counsel, 1(1), 41-43.Google Scholar
  80. Neumann, H. P., Bausch, B., McWhinney, S. R., Bender, B. U., Gimm, O., Franke, G., et al. (2002). Germ-line mutations in nonsyndromic pheochromocytoma (See comments). N Engl J Med, 346(19), 1459-1466.Google Scholar
  81. Offit, K. (1998). Clinical Cancer Genetics: Risk Counseling and Management. New York: Wiley-Liss.Google Scholar
  82. O'Neill, S. (2001). Quantitative breast cancer risk assessment. In V. G. Vogel (Ed.), Management of Patients at High Risk for Breast Cancer (pp. 63-93). Malden, MA: Blackwell Science, Inc.Google Scholar
  83. Parmigiani, G., Berry, D., & Aguilar, O. (1998). Determining carrier probabilities for breast cancer-susceptibility genes BRCA1 and BRCA2. Am J Hum Genet, 62(1), 145-158.Google Scholar
  84. Peters, J. A., & Stopfer, J. E. (1996). Role of the genetic counselor in familial cancer. Oncology (Huntington), 10(2), 159-166, 175; Discussion, 176-156, 178.Google Scholar
  85. Richard, S., Beigelman, C., Gerber, S., Van Effenterre, R., Gaudric, A., Sahel, M., et al. (1994). ‘Does hemangioblastoma exist outside von Hippel–Lindau disease?’;. Neuro-Chirurgie, 40(3), 145-154.Google Scholar
  86. Rogers, C. R. (1951). Client-Centered Therapy. Boston: Houghton-Mifflin.Google Scholar
  87. Schneider, K., & Garber, J. (2001). Counseling About Cancer: Strategies for Genetic Counselors, 2nd ed., New York: Wiley.Google Scholar
  88. Schneider, K. A., Patenaude, A. F., & Garber, J. E. (1995). Testing for cancer genes: Decisions, decisions. Nat Med, 1(4), 302-303.Google Scholar
  89. Shattuck-Eidens, D., Oliphant, A., McClure, M., McBride, C., Gupte, J., Rubano, T., et al. (1997). BRCA1 sequence analysis in women at high risk for susceptibility mutations. Risk factor analysis and implications for genetic testing. JAMA, 278(15), 1242-1250.Google Scholar
  90. Simpson, W. J., Carruthers, J. S., & Malkin, D. (1990). Results of a screening program for C-cell disease (medullary thyroid cancer and C-cell hyperplasia). Cancer, 65(7), 1570-1576.Google Scholar
  91. Struewing, J. P., Hartge, P., Wacholder, S., Baker, S. M., Berlin, M., McAdams, M., et al. (1997). The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. N Engl J Med, 336(20), 1401-1408.Google Scholar
  92. Struewing, J. P., Lerman, C., Kase, R. G., Giambarresi, T. R., & Tucker, M. A. (1995). Anticipated uptake and impact of genetic testing in hereditary breast and ovarian cancer families. Cancer Epidemiol, Biomarkers Prev, 4(2), 169-173.Google Scholar
  93. Sweet, K. M., Bradley, T. L., & Westman, J. A. (2002). Identification and referral of families at high risk for cancer susceptibility. J Clin Oncol, 20(2), 528-537.Google Scholar
  94. Syngal, S., Fox, E. A., Eng, C., Kolodner, R. D., & Garber, J. (2000). Sensitivity and specificity of clinical criteria for hereditary non-polyposis colorectal cancer associated mutations in MSH2 and MLH1. J Med Gen, 37, 641-645.Google Scholar
  95. Tavtigian, S. V., Simard, J., Teng, D. H., Abtin, V., Baumgard, M., Beck, A., et al. (2001). A candidate prostate cancer susceptibility gene at chromosome 17 p ‘See comments’;. Nat Genet, 27(2), 172-180.Google Scholar
  96. Theis, B., Boyd, N., Lockwood, G., & Tritchler, D. (1994). Accuracy of family cancer history in breast cancer patients. Eur J Cancer Prev, 3(4), 321-327.Google Scholar
  97. U.S. Preventative Serivecs Task Force, chairman Harold, C. Sox, Jr. (1995). Guide to clinical Preventative Services. 2nd ed., appendix A. U.S. Government Printing Office. Stock no. 017001005258.Google Scholar
  98. Vogelstein, B., & Kinzler, K. W. (1993). The multistep nature of cancer. Trends Genet, 9(4), 138-141.Google Scholar
  99. Vogelstein, B., & Kinzler, K. W. (Eds.) (1997). The Genetic Basis of Human Cancer. New York: McGraw-Hill.Google Scholar
  100. Wiench, M., Wygoda, Z., Gubala, E., Wloch, J., Lisowska, K., Krassowski, J., et al. (2001). Estimation of risk of inherited medullary thyroid carcinoma in apparent sporadic patients. J Clin Oncol, 19(5), 1374-1380.Google Scholar
  101. Wijnen, J. T., Vasen, H. F., Khan, P. M., Zwinderman, A. H., van der Klift, H., Mulder, A., et al. (1998). Clinical findings with implications for genetic testing in families with clustering of colorectal cancer. N Engl J Med, 339(8), 511-518.Google Scholar
  102. Willett, W. (1993). Recent findings regarding lifestyle risk factors in the epidemiology of breast and colon cancer. In R. J. Fortner (Ed.), Accomplishments in Cancer Research (pp. 164-178). Philadelphia: Lippincott.Google Scholar
  103. Xu, J., Zheng, L., Komiya, A., Mychaleckyj, J. C., Isaacs, S. D., Hu, J. J., et al. (2002). Germline mutations and sequence variants of the macrophage scavenger receptor 1 gene are associated with prostate cancer risk. Nat Genet, 32(2):321-325.Google Scholar
  104. Zhou, X. P., Woodford-Richens, K., Lehtonen, R., Kurose, K., Aldred, M., Hampel, H., et al. (2001). Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan–Riley–Ruvalcaba syndromes. Am J Hum Genet, 69, 704-711.Google Scholar

Copyright information

© National Society of Genetic Counselors, Inc. 2004

Authors and Affiliations

  • Angela Trepanier
    • 1
  • Mary Ahrens
    • 2
  • Wendy McKinnon
    • 3
  • June Peters
    • 4
  • Jill Stopfer
    • 5
  • Sherry Campbell Grumet
    • 6
  • Susan Manley
    • 7
  • Julie O. Culver
    • 8
  • Ronald Acton
    • 9
  • Joy Larsen-Haidle
    • 10
  • Lori Ann Correia
    • 11
  • Robin Bennett
    • 12
  • Barbara Pettersen
    • 13
  • Terri Diamond Ferlita
    • 7
  • Josephine Wagner Costalas
    • 14
  • Katherine Hunt
    • 15
  • Susan Donlon
    • 16
  • Cecile Skrzynia
    • 17
  • Carolyn Farrell
    • 18
  • Faith Callif-Daley
    • 19
  • Catherine Walsh Vockley
    • 20
  1. 1.Center for Molecular Medicine and Genetics, Wayne State University School of MedicineWayne State UniversityDetroit
  2. 2.Fairview University Medical CenterUniversity of MinnesotaMinneapolis
  3. 3.Vermont Regional Genetics CenterFamilial Cancer ProgramBurlington
  4. 4.Cancer Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer InstituteNational Institutes of Health, Department of Health and Human ServicesRockville
  5. 5.Cancer Risk Evaluation ProgramHospital of the University of PennsylvaniaPhiladelphia
  6. 6.Cancer Risk Assessment Counseling ProgramEnglewood-Mount SinaiEnglewood
  7. 7.Myriad Genetics Laboratories, Inc.Salt Lake City
  8. 8.Fred Hutchinson Cancer Research CenterSeattle
  9. 9.University of Alabama at BirminghamBirmingham
  10. 10.University of IowaIowa City
  11. 11.V. I. Technologies, Inc.Watertown
  12. 12.Division of Medical GeneticsUniversity of Washington Medical CenterSeattle
  13. 13.Genetic Counseling of Central OregonBend
  14. 14.Fox Chase Cancer CenterPhiladelphia
  15. 15.University Hospital of New MexicoUniversity of New Mexico Health Sciences CenterAlbuquerque
  16. 16.Queen's Comprehensive Genetics CenterHonolulu
  17. 17.Department of MedicineUniversity of North CarolinaChapel Hill
  18. 18.Roswell Park Cancer CenterBuffalo
  19. 19.Children's Medical CenterDayton
  20. 20.Department of Medical Genetics, Mayo ClinicFamilial Cancer ProgramRochester

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