The purpose of this document is to present a current and comprehensive set of practice recommendations for effective genetic cancer risk assessment, counseling and testing for hereditary breast and ovarian cancer. The intended audience is genetic counselors and other health professionals who care for individuals with, or at increased risk of, hereditary breast and/or ovarian cancer.
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ACOG Committee on Practice Bulletins. Hereditary breast and ovarian cancer syndrome (2009) Gynecologic Oncology, 113(1), 6–11.
ACOG Practice Bulletin No. 103: Hereditary Breast and Ovarian Cancer Syndrome (2009). Obstetrics and Gynecology, 113(4), 957–966.
Alter, B. P., Rosenberg, P. S., & Brody, L. C. (2007). Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2. Journal of Medical Genetics, 44(1), 1–9.
American College of Medical Genetics and Genomics. (2012). Policy statement: points to consider in the clinical application of genomic sequencing. Genetics in Medicine, 14(8), 759–761.
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.
American Society of Clinical Oncology. (2010). American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. Journal of Clinical Oncology, 28, 893–901.
Americans with Disabilities Act of 1990; https://doi.org/www.ada.gov/pubs/ada.htm.
Antoniou, A. C., Pharoah, P. D., McMullan, G., Day, N. E., Stratton, M. R., Peto, J., et al. (2002). A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes. British Journal of Cancer, 86(1), 76–83.
Antoniou, A., Pharoah, P. D., Narod, S., Risch, H. A., Eyfjord, J. E., Hopper, J. L., et al. (2003). Average risks of breast and ovarian cancer associated with BRCA1 and BRCA2 mutations detected in cases series unselected for family history: a combined analysis of 22 studies. American Journal of Human Genetics, 72(5), 1117–1130.
Antoniou, A. C., Pharoah, P. D., Smith, P., & Easton, D. F. (2004). The BOADICEA model of genetic susceptibility to breast and ovarian cancer. British Journal of Cancer, 91(8), 1580–1590.
Armstrong, K., Eisen, A., & Weber, B. (2000). Assessing the risk of breast cancer. The New England Journal of Medicine, 342(8), 564–571.
Atchley, D. P., Albarracin, C. T., Lopez, A., Valero, V., Amos, C. I., Gonzalez-Angulo, A. M., Hortobagyi, G. N., & Arun, B. K. (2008). Clinical and pathologic characteristics of patients with BRCA-positive and BRCA-negative breast cancer. Journal of Clinical Oncology, 26, 4282–4288.
Begg, C. B., Haile, R. W., Borg, A., Malone, K. E., Concannon, P., et al. (2009). Variation of breast cancer risk among BRCA1/2 carriers. An investigation by the WECARE Study Group. JAMA, 299(2), 194–201.
Beiner, M. E., Finch, A., Rosen, B., Lubinski, J., Moller, P., Ghadirian, P., et al. (2007). The risk of endometrial cancer in women with BRCA1 and BRCA2 mutations. A prospective study. Gynecologic Oncology, 104, 7–10.
Bergman, A., Einbeigi, Z., Olofsson, U., Taib, Z., Wallgren, A., Karlsson, P., et al. (2001). The western Swedish BRCA1 founder mutation 3171ins5; a 3.7 cM conserved haplotype of today is a reminiscence of a 1500-year-old mutation. European Journal of Human Genetics, 9, 787–793.
Berliner, J. L., & Fay, A. M. (2007). Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National Society of Genetic Counselors. Journal of Genetic Counseling, 16(3), 241–260.
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.
Bevers, T. B., Anderson, B. O., Bonaccio, E., Buys, S., Daly, M. B., Dempsey, P. J., et al. (2009). Breast cancer screening and diagnosis. JNCCN, 7, 1060–1096.
Chen, S., Iversen, E. S., Friebel, T., Finkelstein, D., et al. (2006). Characterization of BRCA1 and BRCA2 mutations in a large United States sample. Journal of Clinical Oncology, 24(6), 863–871.
Claus, E., Risch, N., & Thompson, D. (1994). Autosomal dominant inheritance of early-onset breast cancer. Cancer, 73, 643–651.
Csokay, B., Udvarhelyi, N., Sulyok, Z., Besznyak, I., Ramus, S., Ponder, B., et al. (1999). High frequency of germ-line BRCA2 mutations among Hungarian male breast cancer patients without family history. Cancer Research, 59, 995–998.
Edwards, S. M., Evans, D. G., Hope, Q., Norman, A. R., Barbachano, Y., Bullock, S., et al. (2010). Prostate cancer in BRCA2 germline mutation carriers is associated with poorer prognosis. British Journal of Cancer, 103(6), 918–924.
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.
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 examine annually. Journal of the National Cancer Institute, 81, 1879–1886.
GeneTests (2012). https://doi.org/www.genetests.org.
Godard, B., Foulkes, W. D., Provencher, D., Brunet, J. S., Tonin, P. N., Mes-Masson, A. M., et al. (1998). Risk factors for familial and sporadic ovarian cancer among French Canadians: a case–control study. American Journal of Obstetrics and Gynecology, 179(2), 403–410.
Gonzalez-Angulo, A. M., Timms, K. M., Liu, S., Chen, H., Litton, J. K., Potter, J., et al. (2011). Incidence and outcome of BRCA mutations in unselected patients with triple receptor-negative breast cancer. Clinical Cancer Research, 17(5), 1082–1089.
Greely, H. T. (2005). Banning genetic discrimination. NEJM, 353(9), 865–867.
Health Insurance Portability and Accountability Act of 1996, Pub L No 104–191; US Department of Health and Human Services: OCR Privacy Brief. Summary of the HIPAA Privacy Rule. https://doi.org/www.hhs.gov/ocr/privacysummary.pdf.
H.R. 493 (110th): Genetic Information Nondiscrimination Act of 2008, accessed at https://doi.org/www.govtrack.us/congress/bills/110/hr493.
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. JNCI, 97(18), 1382–1384.
Lavie, O., Ben-Arie, A., Segev, Y., Faro, J., Barak, F., Haya, N., Auslender, R., & Gemer, O. (2010). BRCA germline mutations in women with uterine serous carcinoma–still a debate. International Journal of Gynecological Cancer, 20(9), 1531–1534.
Lindor & Greene (2008). SPECIAL ARTICLE. The Concise Handbook of Family Cancer Syndromes. Journal of the NationalCancer Institute Monographs, No. 38.
Lowery, M., Kelsen, D., Stadler, Z., Yu, K. H., Janjigian, Y. Y., Ludwig, E., et al. (2011). An emerging entity: pancreatic adenocarcinoma associated with a known BRCA mutation: clinical descriptors, treatment implications, and future directions. The Oncologist, 16, 1397–1402.
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.
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.
Metcalfe, K. A., Finch, A., Poll, A., Horsman, D., Kim-Sing, C., & Scott, J. (2009). Breast cancer risks in women with a family history of breast or ovarian cancer who have tested negative for a BRCA1 or BRCA2 mutation. British Journal of Cancer, 100(2), 421–425.
Mikaelsdottir, E. K., Valgeirsdottir, S., Eyfjord, J. E., & Rafnar, T. (2004). The Icelandic founder mutation BRCA2 999del5: analysis of expression. Breast Cancer Research, 6, R284–R290.
Narod, S. A., Neuhausen, S., Vichodez, G., Armel, S., Lynch, H. T., Ghadirian, P., et al. (2008). Rapid progression of prostate cancer in men with a BRCA2 mutation. British Journal of Cancer, 99(2), 371–374.
National Cancer Institute (2009). Breast Cancer Prevention. Description of Evidence. https://doi.org/www.cancer.gov/cancertopics/pdq/genetics/breast-and ovarian/HealthProfessional#Section_6
National Comprehensive Cancer Network (NCCN) Guidelines, Inc. (2012). Hereditary Breast and/or Ovarian Cancer Syndrome (v.3.2012). https://doi.org/www.nccn.org/professionals/physician_gls/pdf/genetics_screening.pdf
National Society of Genetic Counselors (NSGC) Code of Ethics (adopted 1/92; revised 1/06) https://doi.org/www.nsgc.org/Advocacy/NSGCCodeofEthics/tabid/155/Default.aspx
Parmigiani, G., Berry, D., & Aguilar, O. (1998). Determining carrier probabilities for breast cancer-susceptibility genes BRCA1 and BRCA2. American Journal of Human Genetics, 62, 145–158.
Patenaude, A. F. (2005). Genetic testing for cancer: Psychological approaches for helping patients and families. Washington, DC: American Psychological Association.
Petrij-Bosch, A., Peelen, T., van Vliet, M., van Eijk, R., Olmer, R., Drüsedau, M., et al. (1997). BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients. Nature Genetics, 17, 341–345.
Riley, B. D., Culver, J. O., Skrzynia, C., Senter, L. A., Peters, J. A., Costalas, J. W., et al. (2012). Essential elements of genetic cancer risk assessment, counseling and testing: updated recommendations of the National Society of Genetic Counselors. Journal of Genetic Counseling, 21(2), 151–161.
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.
Saslow, D., Boetes, C., Burke, W., et al. (2007). American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. CA: A Cancer Journal for Clinicians, 57(57), 75–89.
Society of Gynecologic Oncologists Education Committee Statement on Risk Assessment for Inherited Gynecological Cancer Predispositions. (2007) Gynecologic Oncology, 107, 159–162.
Stopfer, J. E. (2000). Genetic counseling and clinical cancer genetics services. Seminars in Surgical Oncology, 18, 347–357.
Tai, Y. C., Domchek, S., Parmigiani, G., & Chen, S. (2007). Breast cancer risk among male BRCA1 and BRCA2 mutation carriers. JNCI, 99(23), 1811–1814.
Thompson, D., Easton, D. F., & Breast Cancer Linkage Consortium. (2002). Cancer incidence in BRCA1 mutation carriers. JNCI, 94(18), 1358–1365.
Tonin, P. N., Mes-Masson, A. M., Futreal, P. A., Morgan, K., Mahon, M., Foulkes, W. D., et al. (1998). Founder BRCA1 and BRCA2 mutations in French Canadian breast and ovarian cancer families. American Journal of Human Genetics, 63, 1341–1351.
Tyrer, J., Duffy, S., & Cuzick, J. (2004). A breast cancer prediction model incorporating familial and personal risk factors. Statistics in Medicine, 23, 1111–1130.
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.
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.
The practice guidelines of the National Society of Genetic Counselors (NSGC) are developed by members of the NSGC to assist genetic counselors and other health care providers in making decisions about appropriate management of genetic concerns, including access to and/or delivery of services. Each practice guideline focuses on a clinical or practice-based issue, and is the result of a review and analysis of current professional literature believed to be reliable. As such, information and recommendations within the NSGC practice guidelines reflect the current scientific and clinical knowledge at the time of publication, are only current as of their publication date, and are subject to change without notice as advances emerge.
In addition, variations in practice, which take into account the needs of the individual patient and the resources and limitations unique to the institution or type of practice, may warrant approaches, treatments and/or procedures that differ from the recommendations outlined in this guideline. Therefore, these recommendations should not be construed as dictating an exclusive course of management, nor does the use of such recommendations guarantee a particular outcome. Genetic counseling practice guidelines are never intended to displace a health care provider’s best medical judgment based on the clinical circumstances of a particular patient or patient population. Practice guidelines are published by NSGC for educational and informational purposes only, and NSGC does not “approve” or “endorse” any specific methods, practices, or sources of information.
© 2012 National Society of Genetic Counselors. All rights reserved. This document may not, in whole or in part, be reproduced, copied or disseminated, entered into or stored in a computer database or retrieval system, or otherwise utilized without the prior written consent of the NSGC.
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Resources for Patients (C) and Professionals (P)
American Cancer Society: https://doi.org/www.cancer.org or (800) ACS-2345 (C, P)
American Society of Clinical Oncology: https://doi.org/www.asco.org (C, P)
Be Bright Pink: https://doi.org/www.bebrightpink.org (C)
Cancer Legal Resource Center: (866) THE-CLRC (C, P)
Clinical Cancer Genetics: Risk Counseling and Management, Kenneth Offit, Wiley-Liss; 1998 (P)
Concise Handbook of Familial Cancer Susceptibility Syndromes 2nd Edition, Noralane M. Lindor, Mary L. McMaster, Carl J. Lindor, Mark H. Greene J Natl Cancer Inst Monogr 2008 (38): 3–93 (P)
Counseling About Cancer: Strategies for Genetic Counselors (2nd ed.), Katherine Schneider, Wiley-Liss; 2002 (P)
Facing Our Risk of Cancer Empowered (FORCE): https://doi.org/www.facingourrisk.org (C)
GeneTests and GeneReviews: https://doi.org/www.genetests.org (P)
Genetic Alliance, Inc.: https://doi.org/www.geneticalliance.org (C, P)
Myriad Genetic Laboratories, Inc: https://doi.org/www.myriadtests.com (C, P)
National Institutes of Cancer: https://doi.org/www.cancer.gov or (800) 4-CANCER (C)
National Society of Genetic Counselors: https://doi.org/www.nsgc.org (C)
NCCN Guidelines for Genetic/Familial High-Risk Assessment: Breast and Ovarian https://doi.org/www.nccn.org/professionals/physicians.gls (C, P)
NCI Physicians Data Query (PDQ): https://doi.org/www.nci.nih.gov/cancertopics/pdq/genetics (P)
Online Mendelian Inheritance in Man: https://doi.org/www.ncbi.nlm.nih.gov/Omim (P)
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Berliner, J.L., Fay, A.M., Cummings, S.A. et al. NSGC Practice Guideline: Risk Assessment and Genetic Counseling for Hereditary Breast and Ovarian Cancer. J Genet Counsel 22, 155–163 (2013). https://doi.org/10.1007/s10897-012-9547-1
- Hereditary breast and ovarian cancer
- Cancer genetic counseling
- Risk assessment
- Medical management