Skip to main content
Log in

Risk Assessment and Genetic Counseling for Hereditary Breast and Ovarian Cancer: Recommendations of the National Society of Genetic Counselors

  • Professional Issues
  • Published:
Journal of Genetic Counseling

Abstract

These cancer genetic counseling recommendations describe the medical, psychosocial and ethical implications of identifying at-risk individuals for hereditary breast and ovarian cancer (HBOC) through cancer risk assessment, with or without genetic susceptibility testing. They were developed by members of the Practice Issues Subcommittee of the National Society of Genetic Counselors’ Familial Cancer Risk Counseling Special Interest Group. The information contained in this document is derived from extensive review of the current literature on cancer genetic risk assessment as well as the professional expertise of genetic counselors with significant experience in education and counseling regarding hereditary breast and ovarian cancer. Critical components of the process include the ascertainment of medical and family histories, determination and communication of cancer risk, assessment of risk perception, education regarding the genetics of HBOC, discussion of molecular testing for HBOC if appropriate (including benefits, risks and limitations) and any necessary follow-up. These recommendations do not dictate an exclusive course of management or guarantee a specific outcome. Moreover, they do not replace the professional judgment of a health care provider based on the clinical situation of a client.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Subscribe and save

Springer+ Basic
EUR 32.99 /Month
  • Get 10 units per month
  • Download Article/Chapter or Ebook
  • 1 Unit = 1 Article or 1 Chapter
  • Cancel anytime
Subscribe now

Buy Now

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Similar content being viewed by others

References

  • American Cancer Society (2006). http://www.cancer.org/downloads/STT/CAFF2006PWSecured.pdf, accessed 9/30/06.

  • 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 

  • American Society of Clinical Oncology (1996). Statement of the American Society of Clinical Oncology: Genetic testing for cancer susceptibility. Journal of Clinical Oncology, 14, 1730–1740.

    Google Scholar 

  • American Society of Clinical Oncology (2003). American Society of Clinical Oncology policy statement update: Genetic testing for cancer susceptibility. Journal of Clinical Oncology, 21, 2397–2406.

    Article  Google Scholar 

  • Antoniou, A. C., Pharoah, P. D., Narod, S., Risch, H. A., Eyfjord, J. E., Hopper, J. L., et al. (2005). Breast and ovarian cancer risks to carriers of the BRCA1 5382insC and 185delAG and BRCA2 6174delT mutations: A combined analysis of 22 population based studies. Journal of Medical Genetics, 42(7), 602–603.

    Article  PubMed  CAS  Google Scholar 

  • 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. Annals of Behavioral Medicine, 19(4), 370–377.

    Article  Google Scholar 

  • Baker, D. L., Schuette, J. L., & Uhlmann, W. R. (Eds.) (1998). A guide to genetic counseling. New York: Wiley-Liss.

  • Barcenas, C. H., Hosain, G. M., Arun, B., Zong, J., Zhou, X., Chen, J., et al. (2006). Assessing BRCA carrier probabilities in extended families. Journal of Clinical Oncology, 24(3), 354–360.

    Article  PubMed  Google Scholar 

  • Baumiller, R. C., Cunningham, G., Fisher, N., Fox, L., Henderson, M., Lebel, R., et al. (1996). Code of ethical principles for genetics professionals: An explication. American Journal of Medical Genetics, 65(3), 179–183.

    Article  PubMed  CAS  Google Scholar 

  • Bernhardt, B. A., Biesecker, B. B., & Mastromarino, C. L. (2000). Goals, benefits and outcomes of genetic counseling: Client and genetic counselor assessment. American Journal of Medical Genetics, 94(3), 189–197.

    Article  PubMed  CAS  Google Scholar 

  • Berry, D. A., Iversen, E. S. Jr., Gudbjartsson, D. F., Hiller, E. H., Garber, J. E., Peshkin, B. N., et al. (2002). BRCAPRO validation, sensitivity of genetic testing of BCRA1/BCRA2, and prevalence of other breast susceptibility genes. Journal of Clinial Oncology, 20(11), 2701–2712.

    Article  PubMed  CAS  Google Scholar 

  • 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. Journal of the National Cancer Institute, 89(3), 227–238.

    Article  PubMed  CAS  Google Scholar 

  • Breast Cancer Linkage Consortium (1999). Cancer risks in BRCA2 mutation carriers. Journal of the National Cancer Institute, 91(15), 1310–1316.

    Article  Google Scholar 

  • Brose, M. S., Rebbeck, T. R., Calzone, K. A., Stopfer, J. E., Nathanson, K. L., & Weber, B. L. (2002). Cancer risk estimates for BRCA1 mutation carriers identified in a risk evaluation program. Journal of the National Cancer Institute, 94(18), 1365–1372.

    PubMed  CAS  Google Scholar 

  • 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. American Journal of Medical Genetics, 90(5), 361–368.

    Article  PubMed  CAS  Google Scholar 

  • Claus, E. B., Petruzella, S., Matloff, E., & Carter, D. (2005). Prevalence of BRCA1 and BRCA2 mutations in women diagnosed with ductal carcinoma in situ. JAMA, 293(8), 964–969.

    Article  PubMed  CAS  Google Scholar 

  • 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. New England Journal of Medicine, 36(20), 1409–1415.

    Article  Google Scholar 

  • Croyle, R. T. (1997). Psychological aspects of cancer genetic testing. A research clinicians update. Cancer, 80(3, suppl), 569–575.

    Article  PubMed  Google Scholar 

  • Daly, M. B., Axilbund, J. E., Bryant, E., Buys, S., Eng, C., Friedman, S., et al. (2006). Genetic/familial high risk assessment: Breast and ovarian, in Practice guidelines in oncology, NationalComprehensive Cancer Network (NCCN), Version 1. http://www.nccn.org/professionals/physician_gls/PDF/genetics_screening.pdf.

  • Daly, M. B., & Lerman, D. (1993). Ovarian cancer risk counseling: A guide for the practitioner. Oncology, 7(11), 27–34.

    PubMed  CAS  Google Scholar 

  • Domchek, S. M., Eisen, A., Calzone, K., Stopfer, J., Blackwood, A., & Weber, B. L. (2003). Application of breast cancer risk prediction models in clinical practice. Journal of Clinical Oncology, 21(4), 593–601.

    Article  PubMed  Google Scholar 

  • Domchek, S. M., Friebel, T. M., Neuhausen, S. L., Wagner, T., Evans, G., Isaacs, C., et al. (2006). Mortality after bilateral salpingo-oophorectomy in BRCA1 and BRCA2 mutation carriers: A prospective cohort study. Lancet Oncology, 7(3), 223–229.

    Article  PubMed  CAS  Google Scholar 

  • 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. Journal of Medical Genetics, 36(4), 309–312.

    PubMed  CAS  Google Scholar 

  • Eisen, A., Lubinski, J., Klijn, J., Moller, P., Lynch, H. T., Offit, K., et al. (2005). Breast cancer risk following bilateral oophorectomy in BRCA1 and BRCA2 mutation carriers: An international case-control study. Journal of Clinical Oncology, 23(30), 7491–7496.

    Article  PubMed  Google Scholar 

  • Eng, C., Hampel, H., & de la Chapelle, A. (2001). Genetic testing for cancer predisposition. Annual Review of Medicine, 52, 371–400.

    Article  PubMed  CAS  Google Scholar 

  • Euhus, D. (2001). Understanding mathematical models for breast cancer risk assessment and counseling. Breast Journal, 7(4), 224–232.

    Article  PubMed  CAS  Google Scholar 

  • Evans, D. G. R., Eccles, D. M., Rahman, N., Young, K., Bulman, M., Amir, E., et al. (2004). A new scoring system for the chances of identifying a BRCA1/2 mutation outperforms existing models including BRCAPRO. Journal of Medical Genetics, 41, 474–480.

    Article  PubMed  CAS  Google Scholar 

  • Evans, D. G. R., Lalloo, F., Wallace, A., & Rahman, N. (2005). Update on the Manchester scoring system for BRCA1 and BRCA2 testing. Journal of Medical Genetics, 42(7), e39.

    Article  PubMed  CAS  Google Scholar 

  • Fasouliotis, S. J., & Schenker, J. G. (2000). BRCA1 and BRCA2 gene mutations: Decision-making dilemmas concerning testing and management. Obstetrical & Gynecological Survey, 55(6), 373–384.

    Article  CAS  Google Scholar 

  • Finch, A., Beiner, M., Lubinski, J., Lynch, H. T., Moller, P., Rosen, B., et al. (2006). Salpingo-oophorectomy and the risk of ovarian, fallopian tube, and peritoneal cancers in women with a BRCA1 or BRCA2 mutation. JAMA, 296(2), 185–192.

    Article  PubMed  CAS  Google Scholar 

  • Fine, B. (1999). Genetic susceptibility to breast and ovarian cancer: Assessment, counseling, and testing guidelines. Appendix IV: Psychological impact of mutation testing. http://www.health.state.ny.us/nysdoh/cancer/obcancer/contents.htm.

  • Fisher, B., Costantino, J. P., Wickerham, D. L., Redmond, C. K., Kavanah, M., Cronin, W. M., et al. (1998). Tamoxifen for prevention of breast cancer: Report of the National Surgical Adjuvant Breast and Bowel Project P-1 Study. Journal of the National Cancer Institute, 90(18), 1371–1388.

    Article  PubMed  CAS  Google Scholar 

  • Ford, D., Easton, D. F., Bishop, D. T., Narod, S. A., & Goldgar, D. E. (1994). Risks of cancer in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Lancet, 343(8899), 692–695.

    Article  PubMed  CAS  Google Scholar 

  • Ford, D., Easton, D. F., Stratton, M., Narod, S., Goldgar, D., Devilee, P., et al. (1998). Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. American Journal of Human Genetics, 62(3), 676–689.

    Article  PubMed  CAS  Google Scholar 

  • Foster, C., Evans, D. G., Eeles, R., Eccles, D., Ashley, S., Brooks, L., et al. (2004). Non-uptake of predictive genetic testing for BRCA1/2 among relative of known carriers: Attributes, cancer worry, and barriers to testing in a multicenter clinical cohort. Genet Test, 8(1), 23–29.

    Article  PubMed  CAS  Google Scholar 

  • Frank, T. S., Deffenbaugh, A. M., Reid, J. E., Hulick, M., Ward, B. E., Lingenfelter, B., et al. (2002). Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: Analysis of 10,000 individuals. Journal of Clinical Oncology, 20(6), 1480–1490.

    Article  PubMed  CAS  Google Scholar 

  • GeneTests (2006). http://www.genetests.org, accessed 2-16-06.

  • Giordano, S. H. (2005). A review of the diagnosis and management of male breast cancer. Oncologist, 10, 471–479.

    Article  PubMed  Google Scholar 

  • Greely, H. T. (2005). Banning genetic discrimination. NEJM, 353(9), 865–867.

    Article  PubMed  CAS  Google Scholar 

  • Gronwald, J., Tung, N., Foulkes, W. D., Offit, K., Gershoni, R., Daly, M., et al. (2006). Tamoxifen and contralateral breast cancer in BRCA1 and BRCA2 carriers: An update. International Journal of Cancer, 118(9), 2281–2284.

    Article  CAS  Google Scholar 

  • Haile, R. W., Thomas, D. C., McGuire, V., Felberg, A., John, E. M., Milne, R. L., et al. (2006). BRCA1 and BRCA2 mutation carriers, oral contraceptive use, and breast cancer before age 50. Cancer Epidemiology, Biomarkers & Prevention, 15(10), 1863–1870.

    Article  CAS  Google Scholar 

  • Hall, J. M., Lee, M. K., Newman, B., Morrow, J. E., Anderson, L. A., Huey, B., et al. (1990). Linkage to early-onset familial breast cancer to chromosome 17q21. Science, 250(4988), 1684–1689.

    Article  PubMed  CAS  Google Scholar 

  • Hall, M. A., & Rich, S. S. (2000). Laws restricting health insurers’ use of genetic information: Impact on genetic discrimination. American Journal of Human Genetics, 66, 293–307.

    Article  PubMed  CAS  Google Scholar 

  • Hartmann, L. C., Sellers, T. A., Schaid, D., Frank, T., Soderberg, C., Sitta, D., et al. (2001). Efficacy of bilateral prophylactic mastectomy in BRCA1 and BRCA2 gene mutation carriers. JNCI, 93, 1633–1637.

    Article  PubMed  CAS  Google Scholar 

  • Kauff, N. D., Mitra, N., Robson, M. E., Hurley, K. E., Chuai, S., Goldfrank, D., et al. (2005). Risk of ovarian cancer in BRCA1 and BRCA2 mutation-negative hereditary breast cancer families. Journal of the National Cancer Institute, 97(18), 1382–1384.

    Article  PubMed  CAS  Google Scholar 

  • Kauff, N. D., Perez-Segura, P., Robson, M. E., Scheuer, L., Siegel, B., Schluger, A., et al. (2002a). Incidence of non-founder BRCA1 and BRCA2 mutations in high risk Ashkenazi breast and ovarian cancer families. Journal of Medical Genetics, 39(8), 611–614.

    Article  PubMed  CAS  Google Scholar 

  • Kauff, N. D., Satagopan, J. M., Robson, M. E., Scheuer, L., Hensley, M., Hudis, C. A., et al. (2002b). Risk-reducing salpino-oophorectomy in women with a BRCA 1 or BRCA2 mutation. NEJM, 346, 1609–1615.

    Article  PubMed  Google Scholar 

  • King, M. C., Wieand, S., Hale, K., Lee, M., Walsh, T., Owens, K., et al. (2001). Tamoxifen and breast cancer incidence among women with inherited mutations in BRCA1 and BRCA2: National Surgical Adjuvant Breast and Bowel Project (NSABP-P1) Breast Cancer Prevention Trial. JAMA, 286(18), 2251–2256.

    Article  PubMed  CAS  Google Scholar 

  • Kriege, M., Brekelmans, C. T., Boetes, C., Besnard, P. E., Zonderland, H. M., Obdeijn, I. M., et al. (2004). Efficacy of MRI and mammography for breast-cancer screening in women with a familial or genetic predisposition. New England Journal of Medicine, 351(5), 427–437.

    Article  PubMed  CAS  Google Scholar 

  • 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. Journal of the National Cancer Institute, 89(2), 148–157.

    Article  PubMed  CAS  Google Scholar 

  • Lerman, C., Croyle, R. T., Tercyak, K. P., & Hamann, H. (2002). Genetic testing: Psychological aspects and implications. Journal of Consulting and Clinical Psychology, 70(3), 784–797.

    Article  PubMed  Google Scholar 

  • 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. Journal of the National Cancer Institute, 87(4), 286–292.

    Article  PubMed  CAS  Google Scholar 

  • Lobb, E. A., Butow, P., Meiser, B., Tucker, K., & Barratt, A. (2001). How do geneticists and genetic counselors counsel women from high-risk breast cancer families? Journal of Genetic Counseling, 10, 185–199.

    Article  Google Scholar 

  • Love, R. R., Evans, A. M., & Josten, D. M. (1985). The accuracy of patient reports of a family history of cancer. Journal of Chronic Diseases, 38(4), 289–293.

    Article  PubMed  CAS  Google Scholar 

  • 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.

    Article  PubMed  CAS  Google Scholar 

  • MacDonald, D., & Lessick, M. (2000). Hereditary cancers in children and ethical and psychosocial implications. Journal of Pediatric Nursing, 15(4), 217–225.

    Article  PubMed  CAS  Google Scholar 

  • Marroni, F., Aretini, P., D’Andrea, E., Caligo, M. A., Cortesi, L., Viel, A., et al. (2004). Evaluation of widely used models for predicting BRCA1 and BRCA2 mutations. Journal of Medical Genetics, 41, 278–285.

    Article  PubMed  CAS  Google Scholar 

  • McTiernan, A., Gilligan, M. A., & Redmond, C. (1997). Assessing individual risk for breast cancer: Risky business. Journal of Clinical Epidemiology, 50(5), 547–556.

    Article  PubMed  CAS  Google Scholar 

  • Meiser, B., & Halliday, J. L. (2002). What is the impact of genetic counselling in women at increased risk of developing hereditary breast cancer? A meta-analytic review. Social Science & Medicine, 54(10), 1463.

    Article  Google Scholar 

  • Metcalfe, K. A., Lynch, H. T., Ghadirian, P., Tung, N., Olivotto, I. A., Foulkes, W. D., et al. (2005). The risk of ovarian cancer after breast cancer in BRCA1 and BRCA2 carriers. Gynecologic Oncology, 96(1), 222–226.

    Article  PubMed  CAS  Google Scholar 

  • Metcalfe, K., Lynch, H. T., Ghadirian, P., Tung, N., Olivotto, I., Warner, E., et al. (2004). Contralateral breast cancer in BRCA1 and BRCA2 mutation carriers. Journal of Clinical Oncology, 22(12), 2328–2335.

    Article  PubMed  CAS  Google Scholar 

  • Metcalfe, K. A., Semple, J. L., & Narod, S. A. (2005). Time to reconsider subcutaneous mastectomy for breast-cancer prevention? Lancet Oncology, 6, 431–434.

    Article  PubMed  Google Scholar 

  • Miki, Y., Swensen, J., Shattuck-Eidens, D., Futreal, P. A., Harshman, K., Tavtigian, S., et al. (1994). A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science, 266(5182), 66–71.

    Article  PubMed  CAS  Google Scholar 

  • Mitchell, J. L. (1998). Cross-cultural issues in the disclosure of cancer. Cancer Practice, 6(3), 153–160.

    Article  PubMed  CAS  Google Scholar 

  • Modan, B., Hartge, P., Hirsh-Yechezkel, G., Chetrit, A., Lubin, F., Beller, U., et al. (2001). Oral contraceptives and the risk of ovarian cancer among carriers and noncarriers of a BRCA1 or BRCA2 mutation. NEJM, 345, 235–240.

    Article  PubMed  CAS  Google Scholar 

  • Myriad Genetic Laboratories BRACAnalysis® Technical Specifications (2006). http://www.myriadtests.com/provider/doc/tech_specs_brac.pdf, accessed 2/12/06.

  • Narod, S. A., Brunet, J. S., Ghadirian, P., Robson, M., Heimdal, K., Neuhausen, S. L., et al. (2000). Tamoxifen and risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers: A case-control study. Hereditary Breast Cancer Clinical Study Group. Lancet, 356(9245), 1876–1881.

    Article  PubMed  CAS  Google Scholar 

  • Narod, S. A., Dube, M. P., Klijn, J., Lubinski, J., Lynch, H. T., Ghadirian, P., et al. (2002). Oral contraceptives and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers. Journal of the National Cancer Institute, 94(23), 1773–1779.

    PubMed  CAS  Google Scholar 

  • Narod, S. A., Risch, H., Moslehi, R., Dorum, A., Neuhausen, S., Olsson, H., et al. (1998). Oral contraceptives and the risk of hereditary ovarian cancer. Hereditary Ovarian Cancer Clinical Study Group. New England Journal of Medicine, 339(7), 424–428.

    Article  PubMed  CAS  Google Scholar 

  • National Cancer Institute (2006a). http://seer.cancer.gov/faststats/ accessed on 9/30/06.

  • National Cancer Institute (2006b). Genetics of Breast and Ovarian Cancer PDQ®–Health Professional Version. Accessed at http://www.cancer.gov/cancertopics/pdq/genetics/breast-and-ovarian/HealthProfessional/page1 on 3 January.

  • NSGC Position Statement (1995). Prenatal and childhood testing for adult onset disorders. Position statement of the National Society of Genetic Counselors. http://www.ngsc.org/about/position/cfm#Prenatal_two.

  • Pal, T., Permuth-Wey, J., Betts, J. A., Krischer, J. P., Fiorica, J., Arango, H., et al. (2005). BRCA1 and BRCA2 mutations account for a large proportion of ovarian carcinoma cases. Cancer, 104(12), 2807–2816.

    Article  PubMed  CAS  Google Scholar 

  • Parent, M. E., Ghadirian, P., Lacroix, A., & Perret, C. (1997). The reliability of recollections of family history: Implications for the medical provider. Journal of Cancer Education, 12(2), 114–120.

    PubMed  CAS  Google Scholar 

  • Parmigiani, G., Berry, D., & Aguilar, O. (1998). Determining carrier probabilities for breast-cancer suspectibility genes BRCA1 and BRCA2. American Journal of Human Genetics, 62(1), 145–158.

    Article  PubMed  CAS  Google Scholar 

  • Pasacreta, J. V. (2003). Psychosocial issues associated with genetic testing for breast and ovarian cancer risk: An integrative review. Cancer Investigation, 21(4), 588–623.

    Article  PubMed  Google Scholar 

  • Patenaude, A. F. (2005). Genetic testing for cancer: Psychological approaches for helping patients and families. Washington, DC: American Psychological Association.

    Book  Google Scholar 

  • Peters, J. A., & Stopfer, J. E. (1996). Role of the genetic counselor in familial cancer. Oncology, 10(2), 159–166.

    PubMed  CAS  Google Scholar 

  • Phelan, C. M., Kwan, E., Jack, E., Li, S., Morgan, C., Aube, J., et al. (2002). A low frequency of non-founder BRCA1 mutations in Ashkenazi Jewish breast–ovarian cancer families. Human Mutation, 20(5), 352–357.

    Article  PubMed  CAS  Google Scholar 

  • Plevritis, S. K., Kurian, A. W., Sigal, B. M., Daniel, B. L., Ikeda, D. M., Stockdale, F. E., et al. (2006). Cost-effectiveness of screening BRCA1/2 mutation carriers with breast magnetic resonance imaging. JAMA, 295(20), 2374–2384.

    Article  PubMed  CAS  Google Scholar 

  • Powell, C. B., Kenley, E., Chen, L. M., Crawford, B., McLennan, J., Zaloudek, C., et al. (2005). Risk-reducing salpingo-oophorectomy in BRCA mutation carriers: Role of serial sectioning in the detection of occult malignancy. Journal of Clinical Oncology, 23(1), 127–132.

    Article  PubMed  Google Scholar 

  • Ramus, S. J., Friedman, L. S., Gayther, S. A., Ponder, B. A., Bobrow, L., van der Looji, M., et al. (1997). A breast/ovarian cancer patient with germline mutations in both BRCA1 and BRCA2. Nature Genetics, 15(1), 14–15.

    Article  PubMed  CAS  Google Scholar 

  • Rebbeck, T. R., Friebel, T., Lynch, H. T., Neuhausen, S. L., van ’t Veer, L., Garber, J. E., et al. (2004). Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: The PROSE Study Group. Journal of Clinical Oncology, 22(6), 1055–1062.

    Article  PubMed  Google Scholar 

  • Rebbeck, T. R., Friebel, T., Wagner, T., Lynch, H. T., Garber, J. E., Daly, M. B., et al. (2005). Effect of short-term hormone replacement therapy on breast cancer risk reduction after bilateral prophylactic oophorectomy in BRCA1 and BRCA2 mutation carriers: The PROSE Study Group. Journal of Clinical Oncology, 23(31), 7804–7810.

    Article  PubMed  CAS  Google Scholar 

  • Rebbeck, T. R., Levin, A. M., Eisen, A., Snyder, C., Watson, P., Cannon-Albright, L., et al. (1999). Breast cancer risk after bilateral prophylactic oophorectomy in BRCA1 mutation carriers. Journal of the National Cancer Institute, 91, 1475–1479.

    Article  PubMed  CAS  Google Scholar 

  • Rebbeck, T. R., Lynch, H. T., Neuhausen, S. L., Narod, S. A., Van’t Veer, L., Garber, J. E., et al. (2002). Prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations. NEJM, 346, 1616–1622.

    Article  PubMed  Google Scholar 

  • Roa, B. B., Boyd, A. A., Volcik, K., & Richards, C. S. (1996). Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2. Nature Genetics, 14(2), 185–187.

    Article  PubMed  CAS  Google Scholar 

  • Robson, M. (2004). Breast cancer surveillance in women with hereditary risk due to BRCA1 or BRCA2 mutations. Clin Breast Cancer, 5(4), 260–268.

    Article  PubMed  Google Scholar 

  • Rosenthal, A., & Jacobs, I. (1998). Ovarian cancer screening. Seminars in Oncology, 25(3), 315–325.

    PubMed  CAS  Google Scholar 

  • Rubinstein, W. S. (2004). Hereditary breast cancer in Jews. Familial Cancer, 3(3–4), 249–257.

    Article  PubMed  CAS  Google Scholar 

  • Rubinstein, W. S., O’Neill, S. M., Peters, J. A., Rittmeyer, L. J., & Stadler, M. P. (2002). Mathematical modeling for breast cancer risk assessment: State of the art and role in medicine. Oncology, 16(8), 1082–1094.

    PubMed  Google Scholar 

  • Schildkraut, J. M., & Thompson, W. D. (1988). Familial ovarian cancer: A population-based case-control study. American Journal of Epidemiology, 128(3), 456–466.

    PubMed  CAS  Google Scholar 

  • Schneider, K. (2002). Counseling about cancer: Strategies for genetic counselors (2nd ed.). New York: Wiley-Liss.

    Google Scholar 

  • Stopfer, J. E. (2000). Genetic counseling and clinical cancer genetics services. Seminars in Surgical Oncology, 18, 347–357.

    Google Scholar 

  • Theis, B., Boyd, N., Lockwood, G., & Tritchler, D. (1994). Accuracy of family cancer history in breast cancer patients. European Journal of Cancer Prevention, 3(4), 321–327.

    Article  PubMed  CAS  Google Scholar 

  • Thompson, D., Easton, D. F., & Breast Cancer Linkage Consortium (2002). Cancer incidence in BRCA1 mutation carriers. Journal of the National Cancer Institute, 94(18), 1358–1365.

    PubMed  CAS  Google Scholar 

  • Trepanier, A., Ahrens, M., McKinnon, W., Peters, J., Stopfer, J., Campbell Grumet, S., et al. (2004). Genetic cancer risk assessment and counseling: Recommendations of the National Society of Genetic Counselors. Journal of Genetic Counseling, 13(2), 83–114.

    Article  PubMed  Google Scholar 

  • Tyrer, J., Duffy, S. W., & Cuzick, J. (2004). A breast cancer prediction model incorporating familial and personal risk factors. Statistics in Medicine, 23(7), 1111–1130.

    Article  PubMed  Google Scholar 

  • U.S. Preventive Services Task Force, chairman Harold C. Sox, Jr. (1995). Guide to Clinical Preventive Services (2nd ed.). Appendix A. U.S. Government Printing Office. Stock no. 017001005258.

  • U.S. Preventive Services Task Force (2005). Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility: Recommendation statement. Annals of Internal Medicine, 143(5), 355–361.

    Google Scholar 

  • van Asperen, C. J., Brohet, R. M., Meijers-Heijboer, E. J., Hoogerbrugge, N., Verhoef, S., Vasen, H. F., et al. (2005). Netherlands Collaborative Group on Hereditary Breast Cancer (HEBON). Cancer risks in BRCA2 families: Estimates for sites other than breast and ovary. Journal of Medical Genetics, 42(9), 711–719.

    Article  PubMed  Google Scholar 

  • Walsh, T., Casadei, S., Coats, K. H., Swisher, E., Stray, S. M., Higgins, J., et al. (2006). Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer. JAMA, 295(12), 1379–1388.

    Article  PubMed  CAS  Google Scholar 

  • Warner, E., Plewes, D. B., Hill, K. A., Causer, P. A., Zubovits, J. T., Jong, R. A., et al. (2004). Surveillance of BRCA1 and BRCA2 mutation carriers with magnetic resonance imaging, ultrasound, mammography, and clinical breast examination. JAMA, 292(11), 1317–1325.

    Article  PubMed  CAS  Google Scholar 

  • Weil, J. (2000). Psychosocial genetic counseling. New York: Oxford University Press.

    Google Scholar 

  • Whittemore, A. S., Balise, R. R., Pharoah, P. D., Dicioccio, R. A., Oakley-Girvan, I., Ramus, S. J., et al. (2004). Oral contraceptive use and ovarian cancer risk among carriers of BRCA1 or BRCA2 mutations. British Journal of Cancer, 91(11), 1911–1915.

    Article  PubMed  CAS  Google Scholar 

  • Wooster, R., Bignell, G., Lancaster, J., Swift, S., Seal, S., Mangion, J., et al. (1995). Identification of the breast cancer susceptibility gene BRCA2. Nature, 378, 789–792.

    Article  PubMed  CAS  Google Scholar 

  • Wooster, R., Neuhausen, S. L., Mangion, J., Quirk, Y., Ford, D., Collins, N., et al. (1994). Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13. Science, 265(5181), 2088–2090.

    Article  PubMed  CAS  Google Scholar 

  • Ziogas, A., & Anton-Culver, H. (2003). Validation of family history data in cancer family registries. American Journal of Preventive Medicine, 24(2), 190–198.

    Article  PubMed  Google Scholar 

Download references

Acknowledgements

The authors gratefully acknowledge the following individuals for their careful review and comments on drafts of this article: Michelle Martin, MS and Aimee Walter, MS of Myriad Genetic Laboratories, Inc., Dr. Sue Friedman (Executive Director of FORCE: Facing Our Risk of Cancer Empowered); Nettie Beyer, RN (Hematology/Oncology Clinic Coordinator and BRCA Carrier); Dr. Mary Claire King; Dr. Olufunmilayo Olopade; Dr. Wendy S. Rubinstein; Cecelia Bellcross; Kathleen Blazer; Donna Blumenthal; Joann Bodurtha; Heather Creswick; Shelly Cummings; Agnes Masny; John Quillin; Courtney Rowe-Teeter; Jeff Shaw and Jill Stopfer. We also thank members of the NSGC Genetic Services Committee and the Ethics Subcommittee.

At the time of publication and during the development of these recommendations, two of the authors (A.W. and M.M.) were employed by Myriad Genetic Laboratories, Inc. While the above NSGC recommendations do not necessarily reflect the opinions or policies of any corporate entity, the authors acknowledge the potential for the appearance of a conflict of interest.

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Janice L. Berliner.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Berliner, J.L., Fay, A.M. Risk Assessment and Genetic Counseling for Hereditary Breast and Ovarian Cancer: Recommendations of the National Society of Genetic Counselors. J Genet Counsel 16, 241–260 (2007). https://doi.org/10.1007/s10897-007-9090-7

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10897-007-9090-7

Keywords

Navigation