Hereditary breast and ovarian cancer - An update part I - Molecular basics, genetic counselling and risk calculation;Hereditäres mamma- und ovarialkarzinom - Ein update teil I - Molekulare grundlagen, tumorrisikoberatung und risikoberechnung

Geburtshilfe und Frauenheilkunde

Volumn 64, Issue 9, 2004, Pages 900-911

  Fasching, P A ^a,b   Lux, M P ^a   Bani, M ^a   Beckmann, M W ^a  

^a Universitatsfrauenklinikum Erlangen ^*  (Germany)

^b UNIVERSITY HOSPITAL ERLANGEN   (Germany)

Author keywords

BRCA; Familial risk; Hereditary breast cancer; Hereditary ovarian cancer; Predictive genetic testing; Risk estimation

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN; ESTROGEN RECEPTOR; PROGESTERONE RECEPTOR;

BREAST CANCER; CALCULATION; CANCER DIAGNOSIS; CANCER GRADING; CANCER RISK; CANCER SURGERY; CELL DIFFERENTIATION; CELL PROLIFERATION; CHEMOPROPHYLAXIS; CONFERENCE PAPER; DECISION MAKING; EARLY DIAGNOSIS; FAMILIAL CANCER; FAMILY HISTORY; FEMALE; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC PREDISPOSITION; HEALTH PROGRAM; HUMAN; MITOSIS RATE; MOLECULAR BIOLOGY; ONCOGENE; ONSET AGE; OVARY CANCER; PATHOLOGY; PROTEIN EXPRESSION; RISK ASSESSMENT; RISK FACTOR; RISK REDUCTION;

EID: 4544331654     PISSN: 00165751     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2004-821050     Document Type: Conference Paper

References (77)

1. Beckmann MW, Fasching PA, Lux MP, Klemt D, Schroer B, Bodden-Heidrich R, Goecke TO, Niederacher D, Nestle-Krämling C, Das familiäre Mammakarzinom-Syndrom: prädiktive genetische Testung, Beratung und Betreuung. Medizinische Welt 2001; 52: 385-390
2. Ponder BAJ. Cancer genetics. Nature 2001; 411: 336-341
3. Easton DF. Familial risks of breast cancer. Breast Cancer Res 2002; 4: 179-181
4. Boyd J. Molecular genetics of hereditary ovarian cancer. In: Rubin SC, Sutton GP (eds). Ovarian cancer. 2nd ed. Philadelphia: Lippincott Williams & Wilkins, 2001: 3-17
5. Easton on behalf of the BCLC. 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). 2003; 14th General Meeting, Madrid, June 2nd - 4th
6. Lux MP, Fasching P, Bani M, Löhberg C, Pöhls UG, Ackermann S, Beckmann MW. Prophylaktische Therapieoptionen bei Hereditary nonpolyposis colorectal cancer (HNPCC)-assozierten gynäkologischen Malignomen. Prophylaktische Chirurgie bei hereditären Tumoren - ein interdisziplinäres Konzept. Sympomed-Kongressband 2004: in press
7. Pfleiderer A. Möglichkeiten des Tumor-Screenings in der Gynäkologie. Frauenarzt 1995; 8: 893-900
8. Eccles DM, Simmonds P, Goddard J et al. Management of hereditary breast cancer. European Familial Breast Cancer Collaborative Group. Dis Markers 1999; 15: 187-189
9. Kiechle M, Schmutzler RK, Beckmann MW. Prävention: Familiäres Mamma- und Ovarialkarzinom. Deutsches Ärzteblatt 2002; 99: A1372
10. Beckmann MW, Lux MP. Prädiktive Diagnostik und präventive Maßnahmen - hereditäres Mammakarzinom. Onkologe 2004: in press
11. Beckmann MW, Fasching PA, Weiss JM, Magener A, Ortmann O. Update primäres Mammakarzinom 2003 - GebFra-Refresher. Geburtsh Frauenheilk 2003; 63: R65-85
12. Ries LAG, Eisner MP, Kosary CL et al. SEER cancer statistics review, 1973-1999. 2003; Bethesda, Md.: National Cancer Institute, 2002 (Accessed April 1, 2003, at http://seer.cancer.gov/csr/1973_1999/.)
13. Ries LAG, Kosary CL, Hankey BF, Miller BA, Harras A, Edwards BK. Surveillance, Epidemiology, and End results (SEER) Program (web site). 1998; Bethesda, MD: National Institutes of Health, http://www-seer.ims.nci.nih.gov
14. Brekelmans CT. Risk factors and risk reduction of breast and ovarian cancer. Curr Opin Obstet Gynecol 2003; 15: 63-68
15. Page DL, Schuyler PA, Dupont WD, Jensen RA, Plummer WD, Simpson JF. Atypical lobular hyperplasia as a unilateral predictor of breast cancer risk: a retrospective cohort study. Lancet 2003; 361 (9352): 125-129
16. Collaborative Group on Hormonal Factors in Breast Cancer. 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 2001; 358: 1389-1399
17. Wooster R, Weber BL. Breast and ovarian cancer. N Engl J Med 2003; 348: 2339-2347
18. Haffty BG, Harrold BG, Khan AJ et al. Outcome of conservatively managed early-onset breast cancer by BRCA1/2 status. Lancet 2002; 359: 1471-1477
19. Easton DF, Bishop DT, Ford D et al. Risks of cancer in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Lancet 1994; 343: 692
20. Easton DF, Ford D, Bishop DT. Breast and ovarian cancer incidence in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Am J Hum Genet 1995; 56: 256-271
21. Malone KE, Daling JR, Neal C et al. Frequency of BRCA1/BRCA2 mutations in a population-based sample of young breast carcinoma cases. Cancer 2000; 88: 1393-1402
22. Loman N, Johannsson O, Kristoffersson U et al. Family history of breast and ovarian cancers and BRCA1 and BRCA2 mutations in a population-based series of early-onset breast cancer. J Natl Cancer Inst 2001; 93: 1215-1223
23. Krämer S, Ackermann S, Fasching PA, Kreis H, Pöhls U, Beckmann MW. Steroidhormone und Ovarialkarzinom: Risiken und Nutzen. Geburtsh Frauenheilk 2003; 63: 615-623
24. Risch HA, McLaughlin JR, Cole DEC et al. Prevalence and penetrance of germline BRCA1 and BRCA2 mutation in a population series of 649 women with ovarian cancer. Am J Hum Genet 2001; 68: 700-710
25. Hemminki K, Granström C. Familial invasive and borderline ovarian tumors by proband status, age and histology. Int J Cancer 2003; 105: 701-705
26. Adami HO, Hsieh CC, Lambe M. Parity, age of first childbirth, and risk of ovarian cancer. Lancet 1994; 344: 1250-1254
27. King MC, Marks JH, Mandell JB for The New York Breast Cancer Study Group. Breast and Ovarian Cancer Risks Due to Inherited Mutations in BRCA1 and BRCA2. Science 2003; 302: 643-646
28. Breast Cancer Linkage Consortium. Cancer risks in BRCA2 mutation carriers. The Breast Cancer Linkage Consortium. J Natl Cancer Inst 1999; 91: 1310-1316
29. Antoniou A, Pharoah PD, Narod S, Risch HA, Eyfjord JE et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case C series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet 2003; 72: 1117-1130
30. Levy-Lahad E, Plon SE. A risky business - assessing breast cancer risk. Science 2003; 302: 574-575
31. Beckmann MW, Strick R, Strissel PL, Fasching PA, Oppelt P, Pöhls UG, Malur SU, Ackermann S. Aspects of molecular diagnostics and therapy in obstetrics and gynecology. Expert Rev Mol Diagn 2003; 3: 279-287
32. Allinen M, Huusko P, Mäntyniemi S, Launonen V, Winqvist R. Mutation analysis of the CHEK2 gene in families with hereditary breast cancer. Br J Cancer 2000; 85: 209-212
33. Watson P, Bützow R, Lynch HAT, Mecklin JP, Järvinen HJ, Vasen HFA, Madlensky L, Fidalgo P, Bernstein I and the International Collaborative Group on HNPCC. The clinical features of ovarian cancer in hereditary nonpolyposis colorectal cancer. Gynecol Oncol 2001; 82: 223-228
34. Olsen JH, Hanemann JM, Borresen-Dale AL, Brondum-Neilsen K, Hammarstrom L, Kleinerman R, Kaarianen H, Lonnqvist T, Sankila R, Seersholm N et al. Cancer patients with Ataxia-telangiectasia and in their relatives in the Nordic countries. J Natl Cancer Inst 2001; 93: 121-127
35. Dunning AM, Healey CS, Pharoah PD, Teare MD, Ponder BA, Easton DF. A systematic review of genetic polymorphisms and breast cancer risk. Cancer Epidemiol Biomarkers Prev 1999; 8: 843-854
36. De Jong MM, Nolte IM, te Meermann GJ, van der Graaf WTA, Oosterwijk JC, Kleibeuker LH, Schaapveld M, de Vries EGE. Genes other than BRCA1 and BRCA2 involved in breast cancer susceptibility. J Med Genet 2002; 39: 225-242
37. Nathanson KL, Weber L. "Other" breast cancer susceptibility genes: searching for more holy grail. Hum Mol Gen 2003; 10: 715-720
38. Szelei J, Jimenez J, Soto AM, Luizzi MF, Sonnenschein C. Androgen-induced inhibition of proliferation in human breast cancer MCF7 cells transfected with androgen receptor. Endocrinology 1997; 138: 1406-1412
39. Rebbeck TR, Kantoff PW, Krithivas K, Neuhausen S, Blackwood MA, Godwin AK, Daly MB, Narod SA, Garber JE, Lynch HT et al. Modification of BRCA1-associated breast cancer risk by the polymorphic androgen-receptor CAG repeat. Am J Hum Genet 1999; 64: 1371-1377
40. Runnebaum IB, Wang-Gohrke S, Vesprini D, Moslehi R, Brunet S, Kieback DG, Narod SA. Progesterone receptor variant and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. AACR Proceedings 2000: 804
41. Evans HS, Lewis CM, Robinson D, Bell CMJ, Møller H, Hodgson SV. Cancer risks in women with 2 breast or ovarian cancers: clues to genetic cancer susceptibility. Int J Cancer 2001; 94: 758-759
42. Thompson D, Easton DF, Breast Cancer Linkage Consortium. Cancer incidence in BRCA1 mutation carriers. J Natl Cancer Inst 2002; 94: 1358-1365
43. Hemminki K, Vaittinen P, Easton D. Familial cancer risks to offspring from mothers with two primary breast cancers: leads to cancer syndromes. Int J Cancer 2000; 88: 87-91
44. Ford D, Easton DF, Bishop DT et al. Risks of cancer in BRCA1-mutation carriers. Lancet 1994; 343: 692-695
45. Eisinger F, Jacquemier J, Charpin C et al. Mutations at BRCA1: the medullary breast carcinoma revisited. Cancer Res 1998; 58: 1588-1592
46. Lakhani S, Jacquemier J, Sloane JP et al. Multifractional analysis of differences between sporadic breast cancers and cancers involving BRCA1 and BRCA2 mutations. J Natl Cancer Inst 1998; 90: 1138-1145
47. Lakhani SR. 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) 2003; 14th General Meeting, Madrid, June 2nd - 4th
48. Lakhani SR, van de Vijver MJ, Jacqemier J, Anderson TJ, Osin PP, McGuffog L, Easton DF. The pathology of familial breast cancer: Predictive value of immunhistochemical markers estrogen receptor, progesterone receptor, her-2, and p53 in patients with mutations in BRCA1 and BRCA2. J Clin Oncol 2002; 20: 2310-2318
49. Adem C, Reynolds C, Soderberg CL, Slezak JM, McDonnell SK, Sebo TJ, Schaid DJ, Myers JL, Sellers TA, Hartmann LC, Jenkins RB. Pathologic characteristics of breast parenchyma in patients with hereditary breast carcinoma, including BRCA1 and BRCA2 mutation carriers. Cancer 2003; 97: 1-11
50. Ford D, Easton DF, Stratton M, Narod SA, Goldgar DE, Devilee P et al. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Gen 1998; 62: 676-689
51. Ottini L, Masala G, D'Amico C, Mancini B, Saieva C, Aceto G, Gestri D, Vezzosi V, Falchetti M, De Marco M, Paglierani M, Cama A, Bianchi S, Mariani-Costantini R, Palli D. BRCA1 and BRCA2 mutation status and tumor characteristics in male breast cancer: a population-based study in Italy. Cancer Res 2003; 63: 342-347
52. Wolber RA, Dupuis BA, Wick MR. Expression of c-erbB-2 oncoprotein in mammary and extramammary Paget's disease. Am J Clin Pathol 1991; 96: 243-247
53. Pharoah PD, Easton DF, Stochton DL, Gayther S, Ponder BA. Survival in familial, BRCA1-associated, and BRCA2-associated epithelial ovarian cancer. Cancer Res 1999; 59: 868-871
54. Boyd J, Sonoda Y, Federici MG, Bogomolniy F, Rhei E, Maresco DL et al. Clinicopathologic features of BRCA-linked and sporadic ovarian cancer. JAMA 2000; 283: 2260-2265
55. Levine DA, Federici MG, Reuter VE, Boyd J. Cell proliferation and apoptosis in BRCA-associated hereditary ovarian cancer. Gynecol Oncol 2002: 85: 431-434
56. Rhei E, Bogomolniy F, Federici MG, Maresco DL, Offit K, Robson ME, Saigo PE, Boyd J. Molecular genetic characterization of BRCA1- and BRCA2-linked hereditary ovarian cancers. Cancer Res 1998; 58: 3193-3196
57. Cass I, Baldwin RL, Varkey T, Moslehi R, Narod SA, Karlan BY. Improved survival in women with BRCA-associated ovarian carcinoma. Cancer 2003; 97: 2187-2195
58. Kuschel B, Lux MP, Goecke TO, Beckmann MW. Prevention and therapy for BRCA1/2 mutation carriers and women at high risk for breast and ovarian cancer. Eur J Cancer Prev 2000; 9: 139-150
59. Brody LC, Bieecker BB. Breast cancer susceptibility genes: BRCA1 and BRCA2. Medicine 1998; 77: 208-226
60. Lastao L, Joiner TE, Pettit JW, Chorot P, Sandin B. Health belief and illness attitudes as predictors of breast cancer screening attendance. Eur J Public Health 2001; 11: 274-279
61. Niederacher D, Kiechle M, Arnold N. Molekular- und zytogenetische Techniken in der Onkologie. Gynäkologe 1998; 31: 1012-1018
62. German Consortium for hereditary Breast and Ovarian Cancer. Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population. Int J Cancer 2002; 97: 472-480
63. 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. 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 2003; 21: 1675-1681
64. Lee SC, Bernhardt BA, Helzsouer KJ. Utilization of BRCA1/2 genetic testing in the clinical setting. Cancer 2002; 94: 1876-1885
65. 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: 1879-1886
66. Claus EB, Risch N, Thompson WD. Genetic analysis of breast cancer in the cancer and steroid hormone study. Am J Hum Genet 1991; 48: 232-242
67. Claus EB, Thompson WD, Risch N. The calculation of breast cancer risk for women with a first degree familiy of ovarian cancer. Breast Cancer Res Treat 1993; 28: 115-120
68. Claus EB, Risch N, Thompson WD. Autosomal dominant inheritance of early-onset breast cancer. Implications for risk prediction. Cancer 1994; 73: 643-651
69. Berry DA, Parmigiani G, Sanchez J et al. Probability of carrying a mutation of breast-ovarian cancer gene BRCA1 based on family history. J Natl Cancer Inst 1997; 89: 227-238
70. Parmigiani G, Berry D, Aguilar O. Determining carrier probabilities for breast cancer-susceptibility genes BRCA1 and BRCA2. Am J Hum Genet 1998; 62: 145-158
71. Struewing JP, Abeliovich D, Peretz T et al. The carrier frequency of the BRCA1 185 delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals. Nat Genet 1995; 11: 198-200
72. Claus EB, Schildkraut JM, Thompson WD et al. The genetic attributable risk of breast and ovarian cancer. Cancer 1996; 77: 2318-2324
73. Anderson H. Familial Breast and Ovarian Cancer: A Swedish population-based register study. Am J Epidemiol 2000; 152: 1154-1163
74. Tyrer JP, Duffy SW, Cuzick J. A breast cancer prediction model incorporating familial and personal risk factors. Stat Med 2004; 23: 1111-1130
75. Amir E, Evans DG, Shenton A et al. Evaluation of breast cancer risk assessment packages in the family history evaluation and screening programme. J Med Genet 2003; 40: 807-814
76. Meijers-Heijboer H, van den Ouweland A, Klijn J et al. Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat Genet 2002; 31: 55-59
77. Fasching P, Aichinger U, Schulz-Wendtland R, Beckmann MW. GebFra-Refresher - Mammadiagnostik Teil II. Geburtsh Frauenheilk 2001; 61: R17-32