Skip to main content
SpringerLink
Log in

Identification and Management of Women at High Familial Risk for Breast Cancer

  • Chapter
  • First Online:
Breast Surgical Techniques and Interdisciplinary Management

  • 2481 Accesses

Abstract

Breast specialists are routinely asked to provide patients who have breast health concerns with a reasonable estimate of breast cancer risk. The average American woman has a lifetime breast cancer risk in the range of 10–12%, but numerous factors that impact that risk have been identified through epidemiologic studies. The associated risks of breast cancer range in magnitude from modest (relative risks (RR) in the 1–1.5 range) to substantial (RR ≥ 5). Known breast cancer risk factors are presented in order of increasing magnitude. In general, lifestyle-related exposures have been associated with less significant risks, whereas the highest breast cancer risks are associated with radiation therapy to the chest administered between ages 10 and 30 years (RR 4–15) and inheritance of a mutation in BRCA1/2 or another highly penetrant cancer susceptibility gene (RR 2–30).

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

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 129.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Hardcover Book
USD 169.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  1. Van Leeuwen FE, Klokman WJ, Veer MB, et al. Long-term risk of second malignancy in survivors of Hodgkin’s disease treated during adolescence or young adulthood. J Clin Oncol. 2000;18:487–97.

    PubMed  Google Scholar 

  2. Travis LB, Hill DA, Dores GM, et al. Breast cancer following radiotherapy and chemotherapy among young women with Hodgkin disease. JAMA. 2003;290:465–75.

    Article  PubMed  Google Scholar 

  3. Wolden SL, Lamborn KR, Cleary SF, Tate DJ, Donaldson SS. Second cancers following pediatric Hodgkin’s disease. J Clin Oncol. 1998;16:536–44.

    PubMed  CAS  Google Scholar 

  4. Antoniou A, Pharoah PD, Narod S, et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet. 2003;72:1117–30.

    Article  PubMed  CAS  Google Scholar 

  5. Walsh T, King MC. Ten genes for inherited breast cancer. Cancer Cell. 2007;11:103–5.

    Article  PubMed  CAS  Google Scholar 

  6. Santen RJ, Boyd NF, Chlebowski RT, et al. Critical assessment of new risk factors for breast cancer: Considerations for development of an improved risk prediction model. Endocr Relat Cancer. 2007;14:169–87.

    Article  PubMed  Google Scholar 

  7. Travis LB, Hill D, Dores GM, et al. Cumulative absolute breast cancer risk for young women treated for Hodgkin lymphoma. J Natl Cancer Inst. 2005;97:1428–37.

    Article  PubMed  Google Scholar 

  8. Taylor AJ, Winter DL, Stiller CA, Murphy M, Hawkins MM. Risk of breast cancer in female survivors of childhood Hodgkin’s disease in Britain: a population-based study. Int J Cancer. 2007;120:384–91.

    Article  PubMed  CAS  Google Scholar 

  9. Whittemore AS, Gong G, John EM, et al. Prevalence of BRCA1 mutation carriers among U.S. Non-Hispanic Whites. Cancer Epidemiol Biomarkers Prev. 2004;13:2078–83.

    PubMed  CAS  Google Scholar 

  10. Chen S, Parmigiani G. Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol. 2007;25:1329–33.

    Article  PubMed  Google Scholar 

  11. National Comprehensive Cancer Network. Genetic/familial high-risk assessment: breast and ovarian. V.1.2007. http://www.nccn.org/professionals/physician_gls/PDF/genetics_screening.pdf. Accessed 2 May 2007.

  12. Gail MH, Brinton LA, Byar DP, et al. Projecting individualized probabilities of developing breast cancer for white females who are being examined annually. J Natl Cancer Inst. 1989;81:1879–86.

    Article  PubMed  CAS  Google Scholar 

  13. Claus EB, Risch N, Thompson WD. The calculation of breast cancer risk for women with a first degree family history of ovarian cancer. Breast Cancer Res Treat. 1993;28:115–20.

    Article  PubMed  CAS  Google Scholar 

  14. Berry DA, Parmigiani G, Sanchez J, Schildkraut J, Winer E. Probability of carrying a mutation of breast-ovarian cancer gene BRCA1 based on family history. J Natl Cancer Inst. 1997;89:227–38.

    Article  PubMed  CAS  Google Scholar 

  15. Frank TS, Deffenbaugh AM, Reid JE, et al. Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10, 000 individuals. J Clin Oncol. 2002;20:1480–90.

    Article  PubMed  CAS  Google Scholar 

  16. Kurian AW, Chun NM, Mills MA, et al. BRCA1/2 mutations and cancer risk in Asian-Americans. J Clin Oncol. 2007;25S:10512.

    Google Scholar 

  17. Berry DA, Iversen Jr ES, Gudbjartsson DF, et al. BRCAPRO validation, sensitivity of genetic testing of BRCA1/BRCA2, and prevalence of other breast cancer susceptibility genes. J Clin Oncol. 2002;20:2701–12.

    Article  PubMed  CAS  Google Scholar 

  18. Euhus DM, Smith KC, Robinson L, et al. Pretest prediction of BRCA1 or BRCA2 mutation by risk counselors and the computer model BRCAPRO. J Natl Cancer Inst. 2002;94:844–51.

    Article  PubMed  CAS  Google Scholar 

  19. Euhus DM. Understanding mathematical models for breast cancer risk assessment and counseling. Breast J. 2001;7:224–32.

    Article  PubMed  CAS  Google Scholar 

  20. Greely HT. Banning genetic discrimination. N Engl J Med. 2005;353:865–7.

    Article  PubMed  CAS  Google Scholar 

  21. Hudson KL. Prohibiting genetic discrimination. N Engl J Med. 2007;356:2021–3.

    Article  PubMed  CAS  Google Scholar 

  22. Hartmann LC, Schaid DJ, Woods JE, et al. Efficacy of bilateral prophylactic mastectomy in women with a family history of breast cancer. N Engl J Med. 1999;340:77–84.

    Article  PubMed  CAS  Google Scholar 

  23. Rebbeck TR, Friebel T, Lynch HT, et al. Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE study group. J Clin Oncol. 2004;22:1055–62.

    Article  PubMed  Google Scholar 

  24. Giuliano AE, Boolbol S, Degnim A, Kuerer H, Leitch AM, Morrow M. Society of Surgical Oncology: position statement on prophylactic mastectomy. Approved by the Society of Surgical Oncology Executive Council, March 2007. Ann Surg Oncol. 2007;14(9):2425–7.

    Article  PubMed  Google Scholar 

  25. Metcalfe KA, Semple JL, Narod SA. Time to reconsider subcutaneous mastectomy for breast-cancer prevention? Lancet Oncol. 2005;6:431–4.

    Article  PubMed  Google Scholar 

  26. Spear SL, Carter ME, Schwarz K. Prophylactic mastectomy: indications, options, and reconstructive alternatives. Plast Reconstr Surg. 2005;115:891–909.

    Article  PubMed  CAS  Google Scholar 

  27. Montgomery LL, Tran KN, Heelan MC, et al. Issues of regret in women with contralateral prophylactic mastectomies. Ann Surg Oncol. 1999;6:546–52.

    Article  PubMed  CAS  Google Scholar 

  28. Contant CM, Menke-Pluijmers MB, Seynaeve C, et al. Clinical experience of prophylactic mastectomy followed by immediate breast reconstruction in women at hereditary risk of breast cancer (HB(O)C) or a proven BRCA1 and BRCA2 germ-line mutation. Eur J Surg Oncol. 2002;28:627–32.

    Article  PubMed  CAS  Google Scholar 

  29. Heemskerk-Gerritsen BA, Brekelmans CT, Menke-Pluymers MB, et al. Prophylactic mastectomy in BRCA1/2 mutation carriers and women at risk of hereditary breast cancer: long-term experiences at the Rotterdam family cancer clinic. Ann Surg Oncol. 2007;14(12):3335–44.

    Article  PubMed  Google Scholar 

  30. Borgen PI, Hill AD, Tran KN, et al. Patient regrets after bilateral prophylactic mastectomy. Ann Surg Oncol. 1998;5:603–6.

    Article  PubMed  CAS  Google Scholar 

  31. Frost MH, Schaid DJ, Sellers TA, et al. Long-term satisfaction and psychological and social function following bilateral prophylactic mastectomy. JAMA. 2000;284:319–24.

    Article  PubMed  CAS  Google Scholar 

  32. Lodder LN, Frets PG, Trijsburg RW, et al. One year follow-up of women opting for presymptomatic testing for BRCA1 and BRCA2: emotional impact of the test outcome and decisions on risk management (surveillance or prophylactic surgery). Breast Cancer Res Treat. 2002;73:97–112.

    Article  PubMed  CAS  Google Scholar 

  33. Wainberg S, Husted J. Utilization of screening and preventive surgery among unaffected carriers of a BRCA1 or BRCA2 gene mutation. Cancer Epidemiol Biomarkers Prev. 2004;13:1989–95.

    PubMed  CAS  Google Scholar 

  34. Kurian AW, Hartman AR, Mills MA, Ford JM, Daniel BL, Plevritis SK. Opinions of women with high inherited breast cancer risk about prophylactic mastectomy: an initial evaluation from a screening trial including magnetic resonance imaging and ductal lavage. Health Expect. 2005;8:221–33.

    Article  PubMed  Google Scholar 

  35. Eisen A, Lubinski J, Klijn J, et al. Breast cancer risk following bilateral oophorectomy in BRCA1 and BRCA2 mutation carriers: an international case-control study. J Clin Oncol. 2005;23:7491–6.

    Article  PubMed  Google Scholar 

  36. Kauff ND, Satagopan JM, Robson ME, et al. Risk-reducing salpingo-oophorectomy in women with a BRCA1 or BRCA2 mutation. N Engl J Med. 2002;346:1609–15.

    Article  PubMed  Google Scholar 

  37. Metcalfe K, Lynch HT, Ghadirian P, et al. Contralateral breast cancer in BRCA1 and BRCA2 mutation carriers. J Clin Oncol. 2004;22:2328–35.

    Article  PubMed  CAS  Google Scholar 

  38. Rebbeck TR, Lynch HT, Neuhausen SL, et al. Prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations. N Engl J Med. 2002;346:1616–22.

    Article  PubMed  Google Scholar 

  39. Domchek SM, Friebel TM, Neuhausen SL, et al. Mortality after bilateral salpingo-oophorectomy in BRCA1 and BRCA2 mutation carriers: a prospective cohort study. Lancet Oncol. 2006;7:223–9.

    Article  PubMed  CAS  Google Scholar 

  40. Rocca WA, Grossardt BR, de Andrade M, Malkasian GD, Melton III LJ. Survival patterns after oophorectomy in premenopausal women: a population-based cohort study. Lancet Oncol. 2006;7:821–8.

    Article  PubMed  Google Scholar 

  41. Rebbeck TR, Friebel T, Wagner T, et al. 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. J Clin Oncol. 2005;23:7804–10.

    Article  PubMed  CAS  Google Scholar 

  42. Rossouw JE, Anderson GL, Prentice RL, et al. Risks and benefits of estrogen plus progestin in healthy postmenopausal women: principal results from the women’s health initiative randomized controlled trial. JAMA. 2002;288:321–33.

    Article  PubMed  CAS  Google Scholar 

  43. Loprinzi CL, Kugler JW, Barton DL, et al. Phase III trial of gabapentin alone or in conjunction with an antidepressant in the management of hot flashes in women who have inadequate control with an antidepressant alone: NCCTG N03C5. J Clin Oncol. 2007;25:308–12.

    Article  PubMed  CAS  Google Scholar 

  44. Saslow D, Boetes C, Burke W, et al. American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. CA Cancer J Clin. 2007;57:75–89.

    Article  PubMed  Google Scholar 

  45. Kuhl CK, Schrading S, Leutner CC, et al. Mammography, breast ultrasound, and magnetic resonance imaging for surveillance of women at high familial risk for breast cancer. J Clin Oncol. 2005;23:8469–76.

    Article  PubMed  Google Scholar 

  46. Kriege M, Brekelmans CT, Boetes C, et al. Efficacy of MRI and mammography for breast-cancer screening in women with a familial or genetic predisposition. N Engl J Med. 2004;351:427–37.

    Article  PubMed  CAS  Google Scholar 

  47. Leach MO, Boggis CR, Dixon AK, et al. 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. 2005;365:1769–78.

    Article  PubMed  CAS  Google Scholar 

  48. Lehman CD, Blume JD, Weatherall P, et al. Screening women at high risk for breast cancer with mammography and magnetic resonance imaging. Cancer. 2005;103:1898–905.

    Article  PubMed  Google Scholar 

  49. Warner E, Plewes DB, Hill KA, et al. Surveillance of BRCA1 and BRCA2 mutation carriers with magnetic resonance imaging, ultrasound, mammography, and clinical breast examination. JAMA. 2004;292:1317–25.

    Article  PubMed  CAS  Google Scholar 

  50. Tilanus-Linthorst M, Verhoog L, Obdeijn IM, et al. A BRCA1/2 mutation, high breast density and prominent pushing margins of a tumor independently contribute to a frequent false-­negative mammography. Int J Cancer. 2002;102:91–5.

    Article  PubMed  CAS  Google Scholar 

  51. Morris EA, Liberman L, Ballon DJ, et al. MRI of occult breast carcinoma in a high-risk population. AJR Am J Roentgenol. 2003;181:619–26.

    PubMed  Google Scholar 

  52. Hede K. Breast MRI scans need standards, experts say. J Natl Cancer Inst. 2007;99:1066–7.

    Article  PubMed  Google Scholar 

  53. Plevritis SK, Kurian AW, Sigal BM, et al. Cost-effectiveness of screening BRCA1/2 mutation carriers with breast magnetic resonance imaging. JAMA. 2006;295:2374–84.

    Article  PubMed  CAS  Google Scholar 

  54. Fisher B, Costantino JP, Wickerham DL, et al. Tamoxifen for the prevention of breast cancer: current status of the National Surgical Adjuvant Breast and Bowel Project P-1 study. J Natl Cancer Inst. 2005;97:1652–62.

    Article  PubMed  CAS  Google Scholar 

  55. Fisher B, Costantino JP, Wickerham DL, et al. Tamoxifen for prevention of breast cancer: report of the National Surgical Adjuvant Breast and Bowel Project P-1 study. J Natl Cancer Inst. 1998;90:1371–88.

    Article  PubMed  CAS  Google Scholar 

  56. Powles TJ, Ashley S, Tidy A, Smith IE, Dowsett M. Twenty-year follow-up of the Royal Marsden randomized, double-blinded tamoxifen breast cancer prevention trial. J Natl Cancer Inst. 2007;99:283–90.

    Article  PubMed  CAS  Google Scholar 

  57. King MC, Wieand S, Hale K, et al. 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. 2001;286:2251–6.

    Article  PubMed  CAS  Google Scholar 

  58. Gronwald J, Tung N, Foulkes WD, et al. Tamoxifen and contralateral breast cancer in BRCA1 and BRCA2 carriers: an update. Int J Cancer. 2006;118:2281–4.

    Article  PubMed  CAS  Google Scholar 

  59. Narod SA, Brunet JS, Ghadirian P, et al. Tamoxifen and risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers: a case-control study. Hereditary Breast Cancer Clinical Study Group. Lancet. 2000;356:1876–81.

    Article  PubMed  CAS  Google Scholar 

  60. Metcalfe KA, Snyder C, Seidel J, Hanna D, Lynch HT, Narod S. The use of preventive measures among healthy women who carry a BRCA1 or BRCA2 mutation. Fam Cancer. 2005;4:97–103.

    Article  PubMed  Google Scholar 

  61. Bober SL, Hoke LA, Duda RB, Regan MM, Tung NM. Decision-making about tamoxifen in women at high risk for breast cancer: clinical and psychological factors. J Clin Oncol. 2004;22:4951–7.

    Article  PubMed  Google Scholar 

  62. Vogel VG, Costantino JP, Wickerham DL, et al. 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. JAMA. 2006;295:2727–41.

    Article  PubMed  CAS  Google Scholar 

Download references

Acknowledgments

The authors thank Meredith A. Mills, B.A., Nicolette M. Chun, M.S., C.G.C., and Kerry E. Kingham, M.S., C.G.C. for their assistance in researching, reviewing, and formatting this chapter.

Author information

Authors and Affiliations

  1. Division of Oncology, Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA

    Allison W. Kurian

Authors
  1. Allison W. Kurian
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. James M. Ford
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Allison W. Kurian .

Editor information

Editors and Affiliations

  1. Middle Ave. 1285, Menlo Park, 94025, California, USA

    Frederick Dirbas

  2. Iowa City, USA

    Carol Scott-Conner

Rights and permissions

Reprints and permissions

Copyright information

© 2010 Springer New York

About this chapter

Cite this chapter

Kurian, A.W., Ford, J.M. (2010). Identification and Management of Women at High Familial Risk for Breast Cancer. In: Dirbas, F., Scott-Conner, C. (eds) Breast Surgical Techniques and Interdisciplinary Management. Springer, New York, NY. https://doi.org/10.1007/978-1-4419-6076-4_13

Download citation

  • DOI: https://doi.org/10.1007/978-1-4419-6076-4_13

  • Published:

  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4419-6075-7

  • Online ISBN: 978-1-4419-6076-4

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation