Online and Published Resources: BRCA1 and BRCA2

Resources for the General Public

  • A Closer Look at Ovarian Cancer Prevention (2003). Centre de Prevention du Cancer/Cancer Prevention Centre, The Sir Mortimer B. Davis – Jewish General Hospital, Room C-107, 3755, chemin de la Cote Ste-Catherine, Montreal, Quebec H3T 1E2; telephone: (514) 340-8222, ext. 4947.
  • M Achtman (2004). Am I Next in Line? Confronting Hereditary Breast and Ovarian Cancer available from: www.aminextinline.com .
  • A Guide for Jewish Women – What You Need to Know About Hereditary Breast and Ovarian Cancer. (2005) MD Anderson Cancer Center. PDF available at www.mdanderson.org/pdf/guide_for_jewish_women.pdf
  • Breast Cancer Genetics and the Jewish Woman – Sharsheret (Linking Young Jewish Women in their Fight Against Breast Cancer) (2005). For more information or to order, contact info@sharsheret.org or call (toll free) 866-474-2774.
  • Surgeon General's family history tool: "My Family Health Portrait" www.hhs.gov/familyhistory/
  • Frequently Asked Questions about Hereditary Breast Cancer (2004). FORCE – Facing Our Risk of Cancer Empowered, Inc., and the Young Survival Coalition. Call 866-824-7475 or email info@facingourrisk.org or find online at www.facingourrisk.org.
  • Genetic Information, Privacy & Discrimination …What You Need to Know. National Society of Genetic Counselors and FORCE. Find online at www.nsgc.org or www.facingourrisk.org.
  • If Breast or Ovarian Cancer Runs in Your Family (trifold brochure). FORCE - Facing Our Risk of Cancer Empowered. Call 866-824-7475 or email info@facingourrisk.org or find online at www.facingourrisk.org.
  • Ovarian Cancer Risk Reducing Surgery: A Decision-Making Resource – available free of charge from Fox Chase Cancer Center Family Risk Assessment Program; send an email to surgerybook@fccc.edu.
  • What Every Jewish Woman Should Know About Breast and Ovarian Cancer. FORCE - Facing Our Risk of Cancer Empowered. Call 866-824-7475 or email info@facingourrisk.org or find online at www.facingourrisk.org.
  • What Every Woman with Ovarian Cancer Should Know. FORCE – Facing Our Risk of Cancer Empowered. Call 866-824-7475 or email info@facingourrisk.org or find online at www.facingourrisk.org.

Resources For Health Care Providers

Cancer Genetics Guidelines

  • National Comprehensive Cancer Network. Clinical Practice Guidelines in Oncology. Genetic/Familial High Risk Assessment: Breast and Ovarian. [Online]. Available: www.nccn.org/professionals/physician_gls/PDF/genetics_screening.pdf
  • US Preventive Services Task Force. Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility: recommendation statement, 2005. Annals of Internal Medicine, 143;355–61 or available online at www.ahrq.gov/clinic/uspstf/uspsbrgen.htm
  • American Society of Clinical Oncology Policy Statement Update (2003): Genetic Testing for Cancer Susceptibility. Journal of Clinical Oncology, 21(12):2397–2406.

Cancer Genetics Online Resources

Articles Related to Genetic Counseling And Testing

  • Berry DA, 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.
  • Berry DA, Iversen ES et al (2002). BRCAPRO validation, sensitivity of genetic testing of BRCA1/BRCA2 and prevalence of other breast cancer susceptibility genes. Journal of Clinical Oncology, 20:2701-12.
  • RA Eeles, DF Easton, BAJ Ponder and C Eng (2004). Genetic Predisposition to Cancer, 2nd Edition, Springer Berlin/Heidelberg.
  • Eng C, Hampel H and de la Chapelle A (2001). Genetic Testing for Cancer Predisposition. Annual Review of Medicine, 52, 371 – 400.
  • Evans DG 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 - 80.
  • Frank TS et al (2002). Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals. Journal of Clinical Oncology, 20:1480-90.
  • Cancer-Related Genetic Testing and Counseling: Workshop Proceedings, Institute of Medicine, 2007.
  • Offit, K (1998). Clinical Cancer Genetics: Risk Counseling and Management. New York: Wiley-Liss.
  • Petrucelli N, Daly MB, Bars Culver JO and Feldman G (last update: 19 June, 2007). BRCA1 and BRCA2 Hereditary Breast/Ovarian Cancer (Gene Reviews) www.geneclinics.org/profiles/brca1/index.html
  • Schneider K and Garber J (2002). Counseling about Cancer: Strategies for Genetic Counselors, 2nd ed., New York: Wiley-Liss.
  • 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

Articles Related to Management of BRCA Positive Individuals

General information

  • Khoury-Collado F, Bombard AT (2004). Hereditary breast and ovarian cancer: what the primary care physician should know. Obstetrical & Gynecological Survey, 59(7): 537 – 42.
  • Kuschel B, Lux MP, Goecke TO, Beckmann MW (2000). Prevention and therapy for BRCA1/2 mutation carriers and women at high risk for breast and ovarian cancer. European Journal of Cancer Prevention, 9(3): 139 – 50.
  • Metcalfe KA, Ghadirian P, Rosen B, Foulkes W, et al (2007). Variation in rates of uptake of preventive options by Canadian women carrying the BRCA1 and BRCA2 genetic mutation. Open Medicine, 1(2):e92-98.
  • Metcalfe KA, Snyder C, Seidel J, Hanna D, Lynch HT, Narod S (2005). The use of preventive measures among healthy women who carry a BRCA1 or BRCA2 mutation. Familial Cancer, 4:97–103.
  • Modugno F, Moslehi R, Ness RB, Nelson DB, Belle S, Kant JA, et al (2003). Reproductive factors and ovarian cancer risk in Jewish BRCA1 and BRCA2 mutation carriers (United States). Cancer Causes and Control, 14(5): 439 – 46.
  • Narod SA and Offit K (2005). Prevention and management of hereditary breast cancer. Journal of Clinical Oncology, 23:1656–63.
  • Robson M (2004). Breast cancer surveillance in women with hereditary risk due to BRCA1 or BRCA2 mutations. Clinical Breast Cancer, 5:260-8.
  • Robson M and Offit K (2007). Management of an inherited predisposition to breast cancer. New England Journal of Medicine, 357:154-162.
  • Rennert G. et al (2007). Clinical outcomes of breast cancer in carriers of BRCA1 and BRCA2 Mutations. New England Journal of Medicine, 357(2):115-124.
  • Sardanelli F, Podo F, D'Agnolo G., et al (2007). Multicenter comparative multimodality surveillance of women at genetic-familial high risk for breast cancer (HIBCRIT study): interim results. Radiology, 242: 698 – 715.
  • Scheuer L, Kauff ND, Robson M, et al (2002). Outcome of preventive surgery and screening for breast and ovarian cancer in BRCA mutation carriers. Journal of Clinical Oncology, 20:1260–1268.

Surveillance/Screening

  • Kriege M, Brekelmans CT, Boetes C, 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: 427 – 37.
  • Kuhl CK, Schrading S, Leutner CC, et al (2005). Mammography, breast ultrasound, and magnetic resonance imaging for surveillance of women at high familial risk for breast cancer. Journal of Clinical Oncology, 23: 8469 – 76.
  • Leach MO, Boggis CR, Dixon AK, et al (2005). Screening with magnetic resonance imaging and mammography of a UK population at high familial risk of breast cancer: a prospective multicentre cohort study (MARIBS) Lancet, 365: 1769 – 78.
  • Lehman CD, Blume JD, Weatherall P, et al. (2005). Screening women at high risk for breast cancer with mammography and magnetic resonance imaging. Cancer, 103: 1898 – 905.
  • Warner E, Plewes DB, Hill KA, Causer PA, Zubovits JT, Jong RA, et al (2004). Surveillance of BRCA1 and BRCA2 mutation carriers with magnetic resonance imaging, ultrasound, mammography, and clinical breast examination. Journal of the American Medical Association, 292(11):1317–25

Chemoprevention

  • Calderon-Margalit, R and Paltiel, O (2004). Prevention of breast cancer in women who carry BRCA1 or BRCA2 mutations: a critical review of the literature. International Journal of Cancer 112(3): 357-64.
  • Fisher B, Costantino JP, Wickerham DL et al (2005). Tamoxifen for the prevention of breast cancer: current status of the National Surgical Adjuvant Breast and Bowel Project P-1 study. Journal of the National Cancer Institute, 97:1652 – 62.
  • Grenader T, Peretz T, Lifchitz M, Shavit L (2005). BRCA1 and BRCA2 germ-line mutations and oral contraceptives: to use or not to use. Breast, 14(4):264 – 8.
  • Gronwald J, Tung N, Foulkes WD et al (2006) Tamoxifen and contralateral breast cancer in BRCA1 and BRCA2 carriers: an update. International Journal of Cancer, 118:2281–4.
  • King MC, Wieand S, Hale K, Lee M, Walsh T, Owens K, et al (2001). National Surgical Adjuvant Breast and Bowel Project. 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. Journal of the American Medical Association, 286: 2251 – 6.
  • McGuire V, Felberg A, Mills M, Ostrow KL et al (2004). Relation of contraceptive and reproductive history to ovarian cancer risk in carriers and noncarriers of BRCA1 gene mutations. American Journal of Epidemiology, 160:613–18.
  • Metcalfe K, Lynch HT, Ghadirian P, Tung N, Olivotto I, Warner E., Olopade OI, Eisen A, Weber B, McLennan J, Sun P, Foulkes WD and Narold SA (2004) Contralateral breast cancer in BRCA1 and BRCA2 mutation carriers. Journal of Clinical Oncology, 22(12): 2328-35.
  • Modan B, Hartge P, Hirsh, Yechezkel G, et al. National Israel Ovarian Cancer Study Group (2001) Parity, oral contraceptives, and the risk of ovarian cancer among carriers and noncarriers of a BRCA1 or BRCA2 mutation. New England Journal of Medicine, 345: 235-40.
  • Narod, SA, Risch, H, Moslehi, R, Dorum A, et al (1998). Oral contraceptives and the risk of hereditary ovarian cancer. New England Journal of Medicine, 339(7): 424 – 428.
  • Narod SA, Brunet JS, Ghadirian P, Robson M, Heimdal K, Neuhausen SL, et al (2000). Hereditary Breast Cancer Clinical Study Group: Tamoxifen and risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers: a case-control study. Lancet, 356: 1876 – 81.
  • Narod SA, Sun P, Risch HA (2001). Ovarian cancer, oral contraceptives, and BRCA mutations. New England Journal of Medicine, 345: 1706 – 7.
  • Vogel VG, Costantino JP, Wickerham DL et al (2006). Effects of tamoxifen vs. raloxifene on the risk of developing invasive breast cancer and other disease outcomes: the NSABP Study of Tamoxifen and Raloxifene (STAR) P-2 trial. Journal of the American Medical Association, 295: 2727 – 41.
  • Whittemore AS, Balise RR, Pharoah PD, et al (2004). Oral contraceptive use and ovarian cancer risk among carriers of BRCA1 or BRCA2 mutations. British Journal of Cancer, 91:1911-15

Surgical Interventions

  • Domchek SM, Stopfer JE & Rebbeck TR (2006). Bilateral risk-reducing oophorectomy in BRCA1 and BRCA2 mutation carriers. Journal of the National Comprehensive Cancer Network, 4(2):177-82.
  • Domchek SM, Friebel TM, Neuhausen SL, 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 – 9.
  • Eisen A, Lubinski J, Klijn J et al (2005). Breast cancer risk following bilateral oophorectomy in BRCA1 and BRCA2 mutation carriers: an international case-control study. Journal of Clinical Oncology, 23:7491–96.
  • Finch A, Beiner M, Lubinski J et al (2006). Salpingo-oophorectomy and the risk of ovarian, fallopian tube, and peritoneal cancers in women with a BRCA1 or BRCA2 mutation. Journal of the American Medical Association, 296: 185-92.
  • Hartmann, L, Sellers, TA, et al (2001). Efficacy of bilateral prophylactic mastectomy in BRCA1 and BRCA2 gene mutation carriers. Journal of the National Cancer Institute, 93 (21), 1633–1637.
  • Kauff ND, Domchek SM, Friebel TM et al (2008). Risk-reducing salpingo-oophorectomy of BRCA1 and BRCA2 - associated breast and gynecologic cancer: A Multicenter, Prospective Study. Journal of Clinical Oncology, 26(8).
  • Kauff ND, Satagopan JM, Robson ME, Scheuer L, Hensley M, Hudis CA, et al (2002). Risk-reducing salpingo-oophorectomy in women with a BRCA1 or BRCA2 mutation. New England Journal of Medicine, 346: 1609–15.
  • Olopade OI & Artioli G (2004). Efficacy of risk-reducing salpingo-oophorectomy in women with BRCA-1 and BRCA-2 mutations. Breast J, 1: S5 – 9.
  • Powell CB, Kenley E, Chen LM, 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: 127-32.
  • Rebbeck TR, Friebel T, Lynch HT, Neuhausen SL, Van't Veer L, Garber JE, 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 – 62.
  • Rebbeck TR, Lynch HT, Neuhausen SL, Narod SA, Van't Veer L, Garber JE, et al (2002). Prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations. New England Journal of Medicine, 346:1616–22.

Articles Related to Direct to Consumer Marketing

  • American Medical Association (2007). Survey of Direct-to-Consumer Testing Statutes and Regulations. Available at: www.dnapolicy.org/resources/DTCStateLawChart.pdf
  • Centers for Disease Control and Prevention (CDC) (2004). Genetic testing for breast and ovarian cancer susceptibility: evaluating direct-to-consumer marketing – Atlanta, Denver, Raleigh-Durham, and Seattle, 2003, Morbidity and Mortality Weekly Report, 53 (27), pp. 603 – 6.
  • Myriad Genetics, Inc. (2002) First Ever Campaign for Cancer Predictive Test to Market BRACAnalysis in Denver and Atlanta. Available at: www.corporate-ir.net/ireye/ir_site.zhtml?ticker=mygn&script=413&layout=9&item_id=333030.
  • Myriad Genetic Laboratories, Inc. (2002). Consumer awareness campaign for BRACAnalysis in Atlanta and Denver. Salt Lake City, UT: Myriad Genetic Laboratories, Inc.; 2002.
  • Theology and Ethics Department, Catholic Health Association (2003). Direct-to-consumer marketing for genetic testing. Health Progress. 84(5):35–6, 50.
  • Gollust SE, Hull SC, Wilfond BS (2002). Limitations of direct-to-consumer advertising for clinical genetic testing. Journal of the American Medical Association, 288: 1762 – 1767.
  • Gollust SE, Wilfond BS, Hull SC (2003). Direct-to-consumer sales of genetic services on the Internet. Genetics in Medicine; 5:332–337.
  • Gray S, Olopade O. (2003). Direct-to-consumer marketing of genetic tests for cancer: buyer beware. Journal of Clinical Oncology, 21: 3191 – 3193.
  • Hull SC, Prasad, K. (2001). Reading between the lines: direct-to-consumer advertising of genetic testing in the USA. Reproductive Health Matters, 9(18):44–8.
  • Mouchawar J, Hensley-Alford S, et al (2005). Impact of direct-to-consumer advertising for hereditary breast cancer testing on genetic services at a managed care organization: A naturally occurring experiment. Genetics in Medicine, 7(3):191–7.
  • Mouchawar J, Hensley-Alford S, et al (2003). Impact of direct-to-consumer advertising for BRACAnalysis on genetic counseling referrals at a managed care organization. Journal of Genetic Counseling, Annual Education Conference Abstracts.
  • Myers MF et al (2006) Genetic testing for susceptibility to breast and ovarian cancer: Evaluating the impact of a direct-to-consumer marketing campaign on physicians' knowledge and practices. Genetics in Medicine, 8(6):361–370.
  • Wade CH, Wilfond BS (2006). Ethical and clinical practice considerations for genetic counselors related to direct-to-consumer marketing of genetic tests [Review] American Journal of Medical Genetics, Part C, Seminars in Medical Genetics. 142(4):284–92.
  • Williams-Jones, B (2006). "Be ready against cancer, now": Direct-to-consumer advertising for genetic testing. New Genetics and Society; 25(1):89–107.
  • Wolfberg, AJ. (2006). Genes on the web – direct-to-consumer marketing of genetic testing. New England Journal of Medicine. 355(6):543–5.

Articles Related to PCPS' Knowledge, Attitudes and Practice Patterns

  • Acton RT, Burst NM, et al (2000). Knowledge, attitudes and behaviors of Alabama's primary care physicians regarding cancer genetics. Academic Medicine; 75: 850 – 852.
  • Doksum T, Bernhardt BA, et al (2003). Does knowledge about the genetics of breast cancer differ between nongeneticist physicians who do or do not discuss or order BRCA testing? Genetics in Medicine, 5: 99 – 105.
  • Escher M, Sappino AP. (2000). Primary care physicians' knowledge and attitudes towards genetic testing for breast-ovarian cancer predisposition. Annals of Oncology; 11: 1131 – 1135.
  • Freedman AN, Wideroff L, et al (2003). US physicians' attitudes toward genetic testing for cancer susceptibility. American Journal of Medical Genetics; 120: 63 – 71.
  • Hayflick SJ, Eiff MP, et al (1998). Primary care physicians' utilization and perceptions of genetics services. Genetics in Medicine; 1: 13 – 21.
  • Mouchawar J, Klein C, et al (2001). Colorado physicians' hereditary breast cancer knowledge and practice behavior. Journal of Cancer Education; 16: 33 – 37.
  • Vadaparampil ST, Wideroff L, et al (2005). Physician exposure to and attitudes toward advertisements for genetic tests for inherited cancer susceptibility. American Journal of Medical Genetics; 135: 41 – 46.
  • Wideroff L, Freedman AN, et al (2003). Physician use of genetic testing for cancer susceptibility: results of a national survey. Cancer Epidemiology Biomarkers Prevention; 12: 295 – 303.
  • Wideroff L, Vadaparampil ST, et al (2005). Hereditary breast/ovarian and colorectal cancer genetics knowledge in a national sample of US physicians. Journal of Medical Genetics; 42: 749 – 755.
  • Williams-Jones, B. (2006). 'Be ready against cancer, now': direct-to-consumer advertising for genetic testing. New Genetics and Society, Vol. 25(1).