Skip to main content

Hereditary breast and ovarian cancer: review and future perspectives

Journal of Molecular Medicine volume 84, pages 16–28 (2006)Cite this article

Abstract

Breast cancer (BC) is the most frequent carcinoma in women. The cumulative risk for the disease is 10% up to the age of 80 years. A familial history of BC and ovarian cancer (OC) is a significant risk factor. Some 5–10% of all cases of BC and 25–40% of cases in patients under the age of 35 years have a hereditary origin. BRCA1/BRCA2 mutations are responsible for 3–8% of all cases of BC and 30–40% of familial cases. Ten percent of patients with OC have a genetic predisposition. About 80% of families with a history of OC have BRCA1 mutations, while 15% have BRCA2 mutations. Women at risk can receive counseling from interdisciplinary cancer genetics clinics, while those at high risk can receive genetic testing. Risk calculation programs can define the risks and assist in decision making for genetic testing and clinical options. Clinical options require information on the risks of the disease and its mutation status. Chemoprevention is currently a controversial topic, while the use of oral contraceptives can be regarded as reducing the risk for OC. Prophylactic mastectomy and bilateral ovariectomy are the only options that lead to a demonstrable reduction in risk, but they do, of course, affect the patient’s physical integrity. It is not currently known whether intensified early cancer detection is individually beneficial, but this is currently the option that is the least invasive and least burdensome to the patient. Although hereditary BC has different pathological characteristics and the BRCA mutation is an independent negative prognostic factor, there are currently no special treatment guidelines. Without adjuvant hormone therapy or chemotherapy, the overall survival in BRCA mutation carriers is reduced. Chemotherapy regimens involving platinum are particularly beneficial in the treatment of hereditary BC.

This is a preview of subscription content, access via your institution.

Access options

Buy single article

Instant access to the full article PDF.

USD 39.95

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

Abbreviations

BC:

Breast cancer

BCDDP:

Breast Cancer Detection Demonstration Project

BCPT-P1:

Breast Cancer Prevention Trial, Phase 1

CASH:

Cancer and Steroid Hormone (study)

CI:

confidence interval

CORE:

Continuing Outcomes Relevant to Evista (study)

DCIS:

ductal carcinoma in situ

GISS:

Goserelin Ibandronate Screening vs Screening (study)

GnRH:

gonadotropin-releasing hormone

HLA:

human leukocyte antigen

HNPCC:

hereditary nonpolyposis colorectal carcinoma

IBIS:

International Breast Intervention Study

LCIS:

lobular carcinoma in situ

MRI:

magnetic resonance imaging

OC:

ovarian cancer

OR:

odds ratio

RR:

relative risk

SEER:

Surveillance, Epidemiology, and End Results (study)

SIR:

standardized incidence ratio

STAR:

Study of Tamoxifen and Raloxifene

References

  1. Beckmann MW, Fasching PA, Lux MP, Klemt D, Schroer B, Bodden-Heidrich R, Goecke TO, Niederacher D, Nestle-Krämling C (2001) Das familiäre Mammakarzinom-Syndrom: Prädiktive genetische Testung, Beratung und Betreuung. Med Welt 52:385–390

    Google Scholar 

  2. Easton DF (2002) Familial risks of breast cancer. Breast Cancer Res 4(5):179–181

    Article  PubMed  Google Scholar 

  3. Boyd J (2001) Molecular genetics of hereditary ovarian cancer. In: Rubin SC, Sutton GP (eds) Ovarian cancer, vol 2. Lippincott Williams & Wilkins, Philadelphia, pp 3–17

    Google Scholar 

  4. Lux MP, Fasching P, Ackermann S, Bani M, Nestle-Kraemling C, Goecke TO, Niederacher D, Bodden-Heidrich R, Bender HG, Beckmann MW (2005) Age of uptake of early cancer detection facilities by low-risk and high-risk patients with familial breast and ovarian cancer. Eur J Cancer Prev (in press)

  5. Ries LAG, Kosary CL, Hankey BF, Miller BA, Harras A, Edwards BK (1998) Surveillance, Epidemiology, and End Results (SEER) program (web site). National Institutes of Health, Bethesda, MD. http://www-seer.ims.nci.nih.gov

  6. Collaborative Group on Hormonal Factors in Breast Cancer (2001) Familial breast cancer: collaborative reanalysis of individual data from 52 epidemiological studies including 58,209 women with breast cancer and 101,986 women without disease. Lancet 358:1389–1399

    Google Scholar 

  7. Easton DF, Breast Cancer Linkage Consortium (2003) Familial breast cancer risks and the BCLC database. The Breast Cancer Linkage Consortium (BCLC) and the International Collaborative Group on Familial Breast and Ovarian Cancer (ICG-FBOC). 14th General Meeting, Madrid, 2–4 June

  8. Haffty BG, Harrold E, Khan AJ, Pathare P, Smith TE, Turner BC, Glazer PM, Ward B, Carter D, Matloff E, Bale AE, Alvarez-Franco M (2002) Outcome of conservatively managed early-onset breast cancer by BRCA1/BRCA2 status. Lancet 359:1471–1477

    Article  PubMed  Google Scholar 

  9. Easton DF, Ford D, Bishop DT (1995) Breast and ovarian cancer incidence in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Am J Hum Genet 56:256–271

    Google Scholar 

  10. Krämer S, Ackermann S, Fasching PA, Kreis H, Pöhls U, Beckmann MW (2003) Steroidhormone und Ovarialkarzinom: Risiken und Nutzen. Geburtshilfe Frauenheilkd 63:615–623

    Article  Google Scholar 

  11. Adami HO, Hsieh CC, Lambe M (1994) Parity, age of first childbirth, and risk of ovarian cancer. Lancet 344:1250–1254

    Article  PubMed  Google Scholar 

  12. King MC, Marks JH, Mandell JB, New York Breast Cancer Study Group (2003) Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science 302:643–646

    Article  PubMed  Google Scholar 

  13. Wooster R, Weber BL (2003) Breast and ovarian cancer. N Engl J Med 348:2339–2347

    Article  PubMed  Google Scholar 

  14. Fasching P, Aichinger U, Schulz-Wendtland R, Beckmann MW (2001) GebFra-Refresher—Mammadiagnostik Teil II. Geburtshilfe Frauenheilkd 61:R17–R32

    Google Scholar 

  15. Lux MP, Fasching P, Bani M, Löhberg C, Pöhls UG, Ackermann S, Beckmann MW (2003) Prophylaktische Therapieoptionen bei Hereditary non-polyposis colorectal cancer (HNPCC)-assoziierten gynäkologischen Malignomen. Prophylaktische Chirurgie bei hereditären Tumoren—ein interdisziplinäres Konzept. In: Sutter T, Brauckhoff M, Dralle H (eds) Aktuelle Chirurgie endokriner Erkrankungen und hereditärer Tumoren. Gutenberg Verlag, Leipzig, Germany, pp 181–193

    Google Scholar 

  16. De Jong MM, Nolte IM, te Meermann GJ, van der Graaf WTA, Oosterwijk JC, Kleibeuker LH, Schaapveld M, de Vries EGE (2002) Genes other than BRCA1 and BRCA2 involved in breast cancer susceptibility. J Med Genet 39:225–242

    Article  PubMed  Google Scholar 

  17. Evans HS, Lewis CM, Robinson D, Bell CMJ, Møller H, Hodgson SV (2001) Cancer risks in women with 2 breast or ovarian cancers: clues to genetic cancer susceptibility. Int J Cancer 94:758–759

    Article  PubMed  Google Scholar 

  18. Breast Cancer Linkage Consortium (1999) Cancer risks in BRCA2 mutation carriers. J Natl Cancer Inst 91:1310–1316

    Google Scholar 

  19. Thompson D, Easton DF, Breast Cancer Linkage Consortium (2002) Cancer incidence in BRCA1 mutation carriers. J Natl Cancer Inst 94:1358–1365

    PubMed  Google Scholar 

  20. Hall JM, Lee MK, Newman B, Morrow JE, Anderson LA, Huey B, King MC (1990) Linkage of early-onset familial breast cancer to chromosome 17q21. Science 250:1684–1689

    PubMed  Google Scholar 

  21. Wooster R, Neuhausen SL, Mangion J, Quirk Y, Ford D, Collins N, Nguyen K, Seal S, Tran T, Averill D, Fields P, Marshall G, Narod S, Lenoir GM, Lynch H, Feunteun J, Devilee P, Cornelisse CJ, Menko FH, Daly PA, Ormiston W, McManus R, Pye C, Lewis CM, Cannon-Albright LA, Peto J, Ponder BAJ, Skolnick MH, Easton DF, Goldgar DE, Stratton MR (1994) Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12–13. Science 265:2088–2090

    PubMed  Google Scholar 

  22. Knudson AG Jr (1971) Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci U S A 68:820–823

    PubMed  Google Scholar 

  23. Scully R, Puget N (2002) BRCA1 and BRCA2 in hereditary breast cancer. Biochimie 82:95–102

    Article  Google Scholar 

  24. Narod SA, Foulkes WD (2004) BRCA1 and BRCA2: 1994 and beyond. Cancer 4:665–676

    PubMed  Google Scholar 

  25. Lakhani SR, Jacquemier J, Sloane JP, Gusterson BA, Anderson TJ, van de Vijver MJ, Farid LM, Venter D, Antoniou A, Storfer-Isser A, Smyth E, Steel CM, Haites N, Scott RJ, Goldgar D, Neuhausen S, Daly PA, Ormiston W, McManus R, Scherneck S, Ponder BA, Ford D, Peto J, Stoppa-Lyonnet D, Easton DF et al (1998) Multifactorial analysis of differences between sporadic breast cancers and cancers involving BRCA1 and BRCA2 mutations. J Natl Cancer Inst 90:1138–1145

    Article  PubMed  Google Scholar 

  26. Lakhani SR, van de Vijver MJ, Jacqemier J, Anderson TJ, Osin PP, McGuffog L, Easton DF (2002) The pathology of familial breast cancer: predictive value of immunohistochemical markers estrogen receptor, progesterone receptor, Her-2, and p53 in patients with mutations in BRCA1 and BRCA2. J Clin Oncol 20:2310–2318

    Article  PubMed  Google Scholar 

  27. Lakhani SR (2003) The pathology of familial breast cancer. The Breast Cancer Linkage Consortium (BCLC) and the International Collaborative Group on Familial Breast and Ovarian Cancer (ICG-FBOC). 14th General Meeting, Madrid, 2–4 June

  28. Pharoah PD, Easton DF, Stockton DL, Gayther S, Ponder BA (1999) Survival in familial, BRCA1-associated, and BRCA2-associated epithelial ovarian cancer. United Kingdom Coordinating Committee for Cancer Research (UKCCCR) Familial Ovarian Cancer Study Group. Cancer Res 59:868–871

    PubMed  Google Scholar 

  29. Levine DA, Federici MG, Reuter VE, Boyd J (2002) Cell proliferation and apoptosis in BRCA-associated hereditary ovarian cancer. Gynecol Oncol 85:431–434

    Article  PubMed  Google Scholar 

  30. Rhei E, Bogomolniy F, Federici MG, Maresco DL, Offit K, Robson ME, Saigo PE, Boyd J (1998) Molecular genetic characterization of BRCA1- and BRCA2-linked hereditary ovarian cancers. Cancer Res 58:3193–3196

    PubMed  Google Scholar 

  31. Cass I, Baldwin RL, Varkey T, Moslehi R, Narod SA, Karlan BY (2003) Improved survival in women with BRCA-associated ovarian carcinoma. Cancer 97(9):2187–2195

    Article  PubMed  Google Scholar 

  32. Kuschel B, Lux MP, Goecke TO, Beckmann MW (2000) Prevention and therapy for BRCA1/BRCA2 mutation carriers and women at high risk for breast and ovarian cancer. Eur J Cancer Prev 9:139–150

    Article  PubMed  Google Scholar 

  33. Beckmann MW, Lux MP (2004) Prädiktive Diagnostik und präventive Massnahmen—hereditäres Mammakarzinom. Onkologe 10:20–28

    Article  Google Scholar 

  34. Beckmann MW, Fasching PA, Weiss JM, Magener A, Ortmann O (2003) Update primäres Mammakarzinom 2003. Geburtshilfe Frauenheilkd 63:R65–R92

    Google Scholar 

  35. Gail MH, Brinton LA, Byar DP, Corle DK, Green SB, Schairer C, Mulvihill JJ (1989) Projecting individualized probabilities of developing breast cancer for white females who are being examined annually. J Natl Cancer Inst 81:1879–1886

    PubMed  Google Scholar 

  36. Claus EB, Risch N, Thompson WD (1994) Autosomal dominant inheritance of early-onset breast cancer: implications for risk prediction. Cancer 73:643–651

    PubMed  Google Scholar 

  37. Parmigiani G, Berry D, Aguilar O (1998) Determining carrier probabilities for breast cancer-susceptibility genes BRCA1 and BRCA2. Am J Hum Genet 62:145–158

    Article  PubMed  Google Scholar 

  38. Tyrer J, Duffy SW, Cuzick J (2004) A breast cancer prediction model incorporating familial and personal risk factors. Stat Med 23:1111–1130

    Article  PubMed  Google Scholar 

  39. Fasching PA, Lux MP, Bani M, Beckmann MW (2004) Hereditäres Mamma- und Ovarailkarzinom—ein Update. Teil I—Molekulare Grundlagen, Tumorrisikoberatung und Risikoberechnung. Geburtshilfe Frauenheilkd 64:900–911

    Article  Google Scholar 

  40. Lux MP, Fasching PA, Bani M, Beckmann MW (2004) Hereditäres mamma- und Ovarialkarzinom—ein Update. Teil—II Therapie, Früherkennung und Prophylaxe. Geburtshilfe Frauenheilkd 64:1037–1051

    Article  Google Scholar 

  41. Hackshaw AK, Paul EA (2003) Breast self-examination and death from breast cancer: a meta-analysis. Br J Cancer 88:1047–1053

    Article  PubMed  Google Scholar 

  42. Pichert G, Bollinger B, Buser K, Pagani O (2003) Evidence-based management for women at increased breast/ovarian cancer risk. Ann Oncol 14:9–19

    Article  PubMed  Google Scholar 

  43. Fletcher SW, Elmore JG (2003) Mammographic screening for breast cancer. N Engl J Med 348:1676–1680

    Article  Google Scholar 

  44. US Preventive Services Task Force (1996) Guide to clinical preventive services. Williams & Wilkins, Baltimore

    Google Scholar 

  45. Warner E, Plewes DB, Shumark RS, Shumak GC, Catzavelos GC, Di Prospero LS, Yaffe MJ, Goel V, Ramsay E, Chart PL, Cole DEC, Taylor GA, Cutrara M, Samuels TH, Murphy JP, Murphy JM, Narod SA (2001) Comparison of breast magnetic resonance imaging, mammography and ultrasound for surveillance of women at high risk for hereditary breast cancer. J Clin Oncol 19:3524–3531

    PubMed  Google Scholar 

  46. Kuhl CK, Schmutzler RK, Leutner CC, Kempe A, Wardelmann E, Hocke A, Maringa M, Pfeifer U, Krebs D, Schild HH (2000) Breast MR imaging screening in 192 women proved or suspected to be carriers of a breast cancer susceptibility gene: preliminary results. Radiology 215:267–279

    PubMed  Google Scholar 

  47. Meijers-Heijboer H, van Geel B, van Putten WL, Henzen-Logmans SC, Seynaeve C, Menke-Pluymers MB, Bartels CC, Verhoog LC, van den Ouweland AM, Niermeijer MF, Brekelmans CT, Klijn JG (2001) Breast cancer after prophylactic bilateral mastectomy in women with a BRCA1 or BRCA2 mutation. N Engl J Med 345:159–164

    Article  PubMed  Google Scholar 

  48. Stoutjesdijk MJ, Boetes C, Jager GJ, Beex L, Bult P, Hendriks JH, Laheij RJ, Massuger L, van Die LE, Wobbes T, Barentsz JO (2001) Magnetic resonance imaging and mammography in women with a hereditary risk of breast cancer. J Natl Cancer Inst 93:1095–1102

    Article  PubMed  Google Scholar 

  49. Warner E, Plewes D, Hill K, Causer P, DeBoer G, Meschino W, Messner S, Jong R, Zubovits J, Yaffe M, Narod SA (2003) Comparison of breast magnetic resonance imaging, mammography and ultrasound for screening of women with BRCA1 and BRCA2 mutations. The Breast Cancer Linkage Consortium (BCLC) and the International Collaborative Group on Familial Breast and Ovarian Cancer (ICG-FBOC). 14th General Meeting, Madrid, 2–4 June

  50. Kriege M, Brekelmans CT, Boetes C, Besnard PE, Zonderland HM, Obdeijn IM, Manoliu RA, Kok T, Peterse H, Tilanus-linthorst MM, Muller SH, Meijer S, Oosterwijk JC, Beex LV, Tollenaar RA, de Koning HJ, Rutgers EJ, Klijn JG, Magnetic Resonance Imaging Screening Study Group (2004) Efficacy of MRI and mammography for breast-cancer screening in women with a familial or genetic predisposition. N Engl J Med 351:427–437

    Article  PubMed  Google Scholar 

  51. Lux MP, Fasching PA, Ackermann S, Nestle-Krämling C, Goecke TO, Niederacher D, Bender HG (2005) Use of intensified early cancer detection in high-risk patients familial breast and ovarian cancer. Eur J Cancer Prev (in press)

  52. NIH Consensus Development Panel on Ovarian Cancer (1995) NIH consensus conference. Ovarian cancer. Screening, treatment, and follow-up. JAMA 273:491–497

    Google Scholar 

  53. Alcázar JL, Merce LT, Laparte C, Jurado M, Lopez-Garcia G (2003) A new scoring system to differentiate benign from malignant adnexal masses. Am J Obstet Gynecol 188(3):685–691

    Article  PubMed  Google Scholar 

  54. Fisher B, Costantino JP, Wickerham DL, Redmond CK, Kavanah M, Cronin WM, Vogel V, Robidoux A, Dimitrov N, Atkins J, Daly M, Wieand S, Tan-Chiu E, Ford L, Wolmark N (1998) Tamoxifen for prevention of breast cancer: report of the National Surgical Adjuvant Breast and Bowel Project P-1 Study. J Natl Cancer Inst 90:1371–1388

    Article  PubMed  Google Scholar 

  55. Powles T, Eeles R, Ashley S, Easton D, Chang J, Dowsett M, Tidy A, Viggers J, Davey J (1998) Interim analysis of the incidence of breast cancer in the Royal Marsden Hospital Tamoxifen Randomised Chemoprevention Trial. Lancet 352:98–101

    PubMed  Google Scholar 

  56. Veronesi U, De Palo G, Marubini E, Costa A, Formelli F, Mariani L, Decensi A, Camerini T, Del Turco MR, Di Mauro MG, Muraca MG, Del Vecchio M, Pinto C, D’Aiuto G, Boni C, Campa T, Magni A, Miceli R, Perloff M, Malone WF, Sporn MB (1999) Randomized trial of fenretinide to prevent secondary breast malignancy in women with early breast cancer. J Natl Cancer Inst 91:1847–1856

    Article  PubMed  Google Scholar 

  57. Chlebowski RT, Collyar DE, Somerfield MR, Pfister DG (1999) American Society of Clinical Oncology technology assessment on breast cancer risk reduction strategies: tamoxifen and raloxifene. J Clin Oncol 17:1939–1955

    PubMed  Google Scholar 

  58. King MC, Wieand S, Hale K, Lee M, Walsh T, Owens K, Tait J, Ford L, Dunn BK, Costantino J, Wickerham L, Wolmark N, Fisher B, National Surgical Adjuvant Breast and Bowel Project (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 286:2251–2256

    Article  PubMed  Google Scholar 

  59. Paepke S, von Minckwitz G, Kaufmann M, Schwarz-Boeger U, Jakobs VR, Aigner M, Pfeifer K, Ehmer M, Huttner C, Blohmer JU, Kiechle M (2003) Chemoprevention of breast cancer: a literature review and report on the current status in Germany. Zentralbl Gynakol 125:338–345

    Article  PubMed  Google Scholar 

  60. Beral V, Darby S, Cuzick J (1999) Hormone replacement therapy and ovarian cancer. BMJ 302:790

    Google Scholar 

  61. Beral V, Herman C, Kay C, Hannaford P, Darby S, Reeves G (1999) Mortality associated with oral contraceptive use: 25 years’ follow up of cohort of 46 000 women from Royal College of General Practitioners’ oral contraceptive study. BMJ 318:96–100

    PubMed  Google Scholar 

  62. Narod SA, Risch H, Moslehi R, Dorum A, Neuhausen S, Olsson H, Provencher D, Radice P, Evans G, Bishop S, Brunet JS, Ponder BA (1998) Oral contraceptives and the risk of hereditary ovarian cancer. Hereditary Ovarian Cancer Clinical Study Group. N Engl J Med 339:424–428

    Article  PubMed  Google Scholar 

  63. Narod SA, Sun P, Ghadirian P, Lynch H, Isaacs C, Garber J, Weber B, Karlan B, Fishman D, Rosen B, Tung N, Neuhausen SL (2001) Tubal ligation and risk of ovarian cancer in carriers of BRCA1 or BRCA2 mutations: a case–control study. Lancet 357:1467–1470

    Article  PubMed  Google Scholar 

  64. Hartmann LC, Schaid DJ, Woods JE, Crotty TP, Myers JL, Arnold PG, Petty PM, Sellers TA, Johnson JL, McDonnell SK, Frost MH, Jenkins RB (1999) Efficacy of bilateral prophylactic mastectomy in women with family history of breast cancer. N Engl J Med 340:77–84

    Article  PubMed  Google Scholar 

  65. Hartmann LC, Sellers TA, Schaid DJ, Frank TS, Soderberg CL, Sitta DL, Frost MH, Grant CS, Donohue JH, Woods JE, McDonnell SK, Vockley CW, Deffenbaugh A, Couch FJ, Jenkins RB (2001) Efficacy of bilateral prophylactic mastectomy in BRCA1 and BRCA2 gene mutation carriers. J Natl Cancer Inst 93:1633–1642

    Article  PubMed  Google Scholar 

  66. Meijers-Heijbouer H, Brekelmans CTM, Menke-Pluymers M, Seynaeve C, Baalbergen A, Burger C, Crepin E, van den Ouweland AWM, van Geel B, Klijn JGM (2003) Use of genetic testing and prophylactic mastectomy and oophorectomy in women with breast or ovarian cancer from families with a BRCA1 or BRCA2 mutation. J Clin Oncol 21:1675–1681

    Article  PubMed  Google Scholar 

  67. Hughes KS, Papa MZ, Whitney T, McLellan R (1999) Prophylactic mastectomy and inherited predisposition to breast carcinoma. Cancer 86:2502–2516

    Article  PubMed  Google Scholar 

  68. Tobacman JK, Greene MH, Tucker MA, Costa J, Kase R, Fraumeni JF Jr (1982) Intra-abdominal carcinomatosis after prophylactic oophorectomy in ovarian-cancer-prone families. Lancet 2(8302):795–797

    Article  PubMed  Google Scholar 

  69. Piver SM, Jishi MF, Tsukada Y, Nava G (1993) Primary peritoneal carcinoma after prophylactic oophorectomy in women with a family history of ovarian cancer. Cancer 71:2751–2755

    PubMed  Google Scholar 

  70. Struewing JP, Watson P, Easton DF, Ponder BA (1995) Prophylactic oophorectomy in inherited breast/ovarian cancer families. Natl Cancer Inst Monogr 17:33–35

    Google Scholar 

  71. Kauff ND, Satagopan JM, Robson ME, Scheuer L, Hensley M, Hudis CA, Ellis NA, Boyd J, Borgen PI, Barakat RR, Norton L, Offit K (2002) Risk-reducing salpingo-oophorectomy in women with a BRCA1 or BRCA2 mutation. N Engl J Med 346:1609–1615

    Article  PubMed  Google Scholar 

  72. Rebbeck TR, Lynch HT, Neuhausen SL, Narod SA, Van’t Veer L, Garber JE, Evans G, Isaacs C, Daly MB, Matloff E, Olopade OI, Weber BL (2002) Prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations. N Engl J Med 346:1616–1622

    Article  PubMed  Google Scholar 

  73. Goffin JR, Chappuis PO, Bégin LR, Wong N, Brunet JS, Hamel N, Paradis AJ, Boyd J, Foulkes WD (2003) Impact of germline BRCA1 mutations and overexpression of p53 on prognosis and response to treatment following breast carcinoma: 10-year follow-up data. Cancer 97:527–536

    Article  PubMed  Google Scholar 

  74. Tassone P, Tagliaferri P, Perricelli A, Blotta S, Quaresima B, Martelli ML, Goel A, Barbieri V, Costanzo F, Boland CR, Venuta S (2003) BRCA1 expression modulates chemosensitivity of BRCA1-defective HCC1937 human breast cancer cells. Br J Cancer 88:1285–1291

    Article  PubMed  Google Scholar 

  75. Narod SA, Brunet JS, Ghadirian P, Robson M, Heimdal K, Neuhausen SL, Stoppa-Lyonett D, Lerman C, Pasini B, de los Rios P, Weber B, Lynch H, for the Hereditary Breast Cancer Clinical Study Group (2000) Tamoxifen and risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers: a case–control study. Lancet 356:1876–1881

    Article  PubMed  Google Scholar 

  76. Early Breast Cancer Trialists’ Collaborative Group (1998) Tamoxifen for early breast cancer: an overview of the randomised trials. Lancet 351:1451–1467

    Google Scholar 

  77. Møller P, Borg Å, Evans DG, Haites N, Reis MM, Vasen H, Anderson E, Steel CM, Apold J, Goudie D, Howell A, Lalloo F, Mæhle L, Gregory H, Heimdal K (2002) Survival in prospectively ascertained familial breast cancer: analysis of a series stratified by tumour characteristics, BRCA mutations and oophorectomy. Int J Cancer 101:555–559

    Article  PubMed  Google Scholar 

  78. Orr JW Jr, Orr P, Kern DH (1999) Cost-effective treatment of women with advanced cancer by cytoreductive surgery and chemotherapy directed by an in vitro assay for drug resistance. Cancer J Sci Am 5:174–178

    PubMed  Google Scholar 

  79. Foulkes WD, Wong N, Brunet JS, Begin LR, Zhang JC, Martinez JJ, Rozen F, Tonin PN, Narod SA, Karp SE, Pollak MN (1997) Germ-line BRCA1 mutation is an adverse prognostic factor in Ashkenazi Jewish women with breast cancer. Clin Cancer Res 3:2465–2469

    PubMed  Google Scholar 

  80. Robson M, Levin D, Federici M, Satagopan J, Bogolminy F, Heerdt A, Borgen P, McCormick B, Hudis C, Norton L, Boyd J, Offit K (1999) Breast conservation therapy for invasive breast cancer in Ashkenazi women with BRCA gene founder mutations. J Natl Cancer Inst 91:2112–2117

    Article  PubMed  Google Scholar 

  81. Stoppa-Lyonnet D, Ansquer Y, Dreyfus H, Gautier C, Gauthier-Villars M, Bourstyn E, Clough KB, Magdelenat H, Pouillart P, Vincet-Salomon A, Fourquet A (2000) Familial invasive breast cancers: worse outcome related to BRCA1-mutations. J Clin Oncol 18:4053–4059

    PubMed  Google Scholar 

  82. Rubin SC, Benjamin I, Behbakht K, Takahashi H, Morgan MA, LiVolsi VA, Berchuck A, Muto MG, Garber JE, Weber BL, Lynch HT, Boyd J (1996) Clinical and pathological features of ovarian cancer in women with germ-line mutations of BRCA1. N Engl J Med 335:1413–1416

    Article  PubMed  Google Scholar 

  83. David YB, Chetrit A, Hirsh-Yechezkel G, Friedman E, Beck BD, Beller U, Ben-Baruch G, Fishman A, Levavi H, Lubin F, Menczer J, Piura B, Struewing JP, Modan B (2002) Effect of BRCA mutations on the length of survival in epithelial ovarian tumors. J Clin Oncol 20:463–466

    Article  PubMed  Google Scholar 

  84. Page DL, Schuyler PA, Dupont WD, Jensen RA, Plummer WD, Simpson JF (2003) Atypical lobular hyperplasia as a unilateral predictor of breast cancer risk: a retrospective cohort study. Lancet 361:125–129

    Article  PubMed  Google Scholar 

  85. Adem C, Reynolds C, Soderberg CL, Slezak JM, McDonnell SK, Sebo TJ, Schaid DJ, Myers JL, Sellers TA, Hartmann LC, Jenkins RB (2003) Pathologic characteristics of breast parenchyma in patients with hereditary breast carcinoma, including BRCA1 and BRCA2 mutation carriers. Cancer 97:1–11

    Article  PubMed  Google Scholar 

  86. Humphrey LJ (1983) Subcutaneous mastectomy is not a prophylaxis against carcinoma of the breast: opinion or knowledge. Am J Surg 145:31–312

    Article  Google Scholar 

  87. Woods JE (1986) Breast reconstruction: current state of the art. Mayo Clin Proc 61:579–585

    PubMed  Google Scholar 

  88. Bohmert HH (1988) Subcutaneous mastectomy. In: Grundfest-Broniatow-ski S, Esseltyn CB Jr (eds) Controversies in breast disease: diagnosis and management. Marcel Dekker, New York, pp 235–259

    Google Scholar 

  89. Pennisi VR, Capozzi A (1989) Subcutaneous mastectomy data: a final statistical analysis of 1500 patients. Aesthetic Plast Surg 13:15–21

    Article  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Obstetrics and Gynecology, University Clinic Erlangen, Universitätsstrasse 21-23, 91054, Erlangen, Germany

    Michael P. Lux, Peter A. Fasching & Matthias W. Beckmann

Authors
  1. Michael P. Lux
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Peter A. Fasching
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Matthias W. Beckmann
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Michael P. Lux.

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Lux, M.P., Fasching, P.A. & Beckmann, M.W. Hereditary breast and ovarian cancer: review and future perspectives. J Mol Med 84, 16–28 (2006). https://doi.org/10.1007/s00109-005-0696-7

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00109-005-0696-7

Keywords

  • Hereditary breast cancer
  • Hereditary ovarian cancer
  • BRCA
  • Genetics
  • Risk calculation
  • Predictive genetic testing