Clinical and molecular diagnosis of inherited breast-ovarian cancer;Diagnostic génétique du cancer du sein et de l'ovaire héréditaire

Journal de Gynecologie Obstetrique et Biologie de la Reproduction

Volumn 32, Issue 2, 2003, Pages 101-119

  Chompret, A ^a  

^a INSTITUT GUSTAVE ROUSSY   (France)

Author keywords

BRCA1; BRCA2; Breast ovarian predisposition; Hereditary breast and ovarian cancer; Oncogenetics

Indexed keywords

BRCA2 PROTEIN; GONADORELIN; SELECTIVE ESTROGEN RECEPTOR MODULATOR; TAMOXIFEN;

AUTOSOMAL DOMINANT INHERITANCE; BREAST CANCER; CANCER DIAGNOSIS; CANCER GENETICS; CANCER RISK; CHEMOPROPHYLAXIS; FEMALE; GENE MUTATION; GENETIC COUNSELING; GENETIC HETEROGENEITY; GENETIC PREDISPOSITION; HETEROZYGOTE; HIGH RISK PATIENT; HUMAN; INHERITANCE; ONCOGENE; OVARY CANCER; PREVALENCE; REVIEW; RISK ASSESSMENT; BREAST TUMOR; GENETIC SCREENING; GENETICS; HEALTH SURVEY; MUTATION; OVARY TUMOR; RISK FACTOR; TUMOR SUPPRESSOR GENE;

BREAST NEOPLASMS; FEMALE; GENES, BRCA1; GENES, BRCA2; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; HUMANS; MUTATION; OVARIAN NEOPLASMS; POPULATION SURVEILLANCE; RISK FACTORS;

EID: 0038661036     PISSN: 03682315     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (161)

1. Pharoah PD, Day NE, Duffy S, Easton DF, Ponder BA. Family history and the risk of breast cancer: a systematic review and meta-analysis. Int J Cancer 1997; 5: 800-9.
2. Goldgar DE, Fields P, Lewis CM, Tran TD, Cannon-Albright LA, Ward JH, et al. A large kindred with 17q-linked breast and ovarian cancer: genetic, phenotypic, and genealogical analysis. J Natl Cancer Inst 1994; 3: 200-9.
3. Williams WR, Anderson DE. Genetic epidemiology of breast cancer: segregation analysis of 200 Danish pedigrees. Genet Epidemiol 1984; 1: 7-20.
4. Hall JM, Lee MK, Newman B, Morrow JE, Anderson LA, Huey B, et al. Linkage of early-onset familial breast cancer to chromosome 17q21. Science 1990; 4988: 1684-9.
5. Narod SA, Feunteun J, Lynch HT, Watson P, Conway T, Lynch J, et al. Familial breast-ovarian cancer locus on chromosome 17q12-q23. Lancet 1991; 8759: 82-3.
6. Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K, Tavtigian S, et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 1994; 5182: 66-71.
7. Stratton MR, Ford D, Neuhasen S, Seal S, Wooster R, Friedman LS, et al. Familial male breast cancer is not linked to the BRCA1 locus on chromosome 17q. Nat Genet 1994; 1: 103-7.
8. Wooster R, Neuhausen SL, Mangion J, Quirk Y, Ford D, Collins N, et al. Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13. Science 1994; 5181: 2088-90.
9. Wooster R, Bignell G, Lancaster J, Swift S, Seal S, Mangion J, et al. Identification of the breast cancer susceptibility gene BRCA2. Nature 1995; 6559: 789-92.
10. Tavtigian SV, Simard J, Rommens J, Couch F, Shattuck-Eidens D, Neuhausen S, et al. The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds. Nat Genet 1996; 3: 333-7.
11. Venkitaraman AR. Cancer susceptibility and the functions of BRCA1 and BRCA2. Cell 2002; 2: 171-82.
12. Moller P, Heimdal K, Apold J, Fredriksen A, Borg A, Hovig E, et al. Genetic epidemiology of BRCA1 mutations in Norway. Eur J Cancer 2001; 18: 2428-34.
13. Verhoog LC, van den Ouweland AM, Berns E, Veghel-Plandsoen MM, van Staveren IL, Wagner A, et al. Large regional differences in the frequency of distinct BRCA1/BRCA2 mutations in 517 Dutch breast and/or ovarian cancer families. Eur J Cancer 2001; 16: 2082-90.
14. Liede A, Cohen B, Black DM, Davidson RH, Renwick A, Hoodfar E, et al. Evidence of a founder BRCA1 mutation in Scotland. Br J Cancer 2000; 3: 705-11.
15. Sekine M, Nagata H, Tsuji S, Hirai Y, Fujimoto S, Hatae M, et al. Mutational analysis of BRCA1 and BRCA2 and clinicopathologic analysis of ovarian cancer in 82 ovarian cancer families: two common founder mutations of BRCA1 in Japanese population. Clin Cancer Res 2001; 10: 3144-50.
16. Tonin PN, Mes-Masson AM, Futreal PA, Morgan K, Mahon M, Foulkes WD, et al. Founder BRCA1 and BRCA2 mutations in French Canadian breast and ovarian cancer families. Am J Hum Genet 1998; 5: 1341-51.
17. Fricker JP, Muller D, Cutuli B, Rodier JF, Janser JC, Jung GM, et al. Germ-line mutations of the BRCA1 gene in northeastern France. Bull Cancer 2000; 10: 739-44.
18. Presneau N, Laplace-Marieze V, Sylvain V, Lortholary A, Hardouin A, Bernard-Gallon D, et al. Mutation by deletion-insertion in BRCA-1 gene in three unrelated French breast/ovarian cancer families: possible implication of a mobile element. Bull Cancer 1999; 4: 385-90.
19. Payne SR, Newman B, King MC. Complex germline rearrangement of BRCA1 associated with breast and ovarian cancer. Genes Chromosomes Cancer 2000; 1: 58-62.
20. Petrij-Bosch A, Peelen T, van Vliet M, van Eijk R, Olmer R, Drusedau M, et al. BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients. Nat Genet 1997; 3: 341-5.
21. Puget N, Stoppa-Lyonnet D, Siniinikova OM, Pages S, Lynch HT, Lenoir GM, et al. Screening for germ-line rearrangements and regulatory mutations in BRCA1 led to the identification of four new deletions. Cancer Res 1999; 2: 455-61.
22. Wang T, Lerer I, Gueta Z, Sagi M, Kadouri L, Peretz T, et al. A deletion/insertion mutation in the BRCA2 gene in a breast cancer family: a possible role of the Alu-polyA tail in the evolution of the deletion. Genes Chromosomes Cancer 2001; 1: 91-5.
23. Nordling M, Karlsson P, Wahlstrom J, Engwall Y, Wallgren A, Martinsson T. A large deletion disrupts the exon 3 transcription activation domain of the BRCA2 gene in a breast/ovarian cancer family. Cancer Res 1998; 7: 1372-5.
24. Collins N, McManus R, Wooster R, Mangion J, Seal S, Lakhani SR, et al. Consistent loss of the wild type allele in breast cancers from a family linked to the BRCA2 gene on chromosome 13q12-13. Oncogene 1995; 8: 1673-5.
25. Smith SA, Easton DF, Evans DG, Ponder BA. Allele losses in the region 17q12-21 in familial breast and ovarian cancer involve the wild-type chromosome. Nat Genet 1992; 2: 128-31.
26. Cornelis RS, Neuhausen SL, Johansson O, Arason A, Kelsell D, Ponder BA, et al. High allele loss rates at 17q12-q21 in breast and ovarian tumors from BRCA1-linked families. The Breast Cancer Linkage Consortium. Genes Chromosomes Cancer 1995; 3: 203-10.
27. Lancaster JM, Wooster R, Mangion J, Phelan CM, Cochran C, Gumbs C, et al. BRCA2 mutations in primary breast and ovarian cancers. Nat Genet 1996; 2: 238-40.
28. Futreal PA, Liu Q, Shattuck-Eidens D, Cochran C, Harshman K, Tavtigian S, et al. BRCA1 mutations in primary breast and ovarian carcinomas. Science 1994; 5182: 120-2.
29. Van Der LM, Cleton-Jansen AM, van Eijk R, Morreau H, van Vliet M, Kuipers-Dijkshoorn N, et al. A sporadic breast tumor with a somatically acquired complex genomic rearrangement in BRCA1. Genes Chromosomes Cancer 2000; 3: 295-302.
30. Chin SF, Wang Q, Puisieux A, Caidas C. Absence of rearrangements in the BRCA2 gene in human cancers. Br J Cancer 2001; 2: 193-5.
31. Baldwin RL, Nemeth E, Tran H, Shvartsman H, Cass I, Naroo S, et al. BRCA1 promoter region hypermethylation in ovarian carcinoma: a population-based study. Cancer Res 2000; 19: 5329-33.
32. Esteller M, Silva JM, Dominguez G, Bonilla F, Matias-Guiu X, Lerma E, et al. Promoter hypermethylation and BRCA1 inactivation in sporadic breast and ovarian tumors. J Natl Cancer Inst 2000; 7: 564-9.
33. Collins N, Wooster R, Stratton MR. Absence of methylation of CpG dinucleotides within the promoter of the breast cancer susceptibility gene BRCA2 in normal tissues and in breast and ovarian cancers. Br J Cancer 1997; 9: 1150-6.
34. Russell PA, Pharoah PD, De Foy K, Ramus SJ, Symmonds I, Wilson A, et al. Frequent loss of BRCA1 mRNA and protein expression in sporadic ovarian cancers. Int J Cancer 2000; 3: 317-21.
35. Chen Y, Chen CF, Riley DJ, Allred DC, Chen PL, Von Hoff D, et al. Aberrant subcellular localization of BRCA1 in breast cancer. Science 1995; 5237: 789-91.
36. Begg CB. On the use of familial aggregation in population-based case probands for calculating penetrance. J Natl Cancer Inst 2002; 16: 1221-6.
37. Ford D, Easton DF, Stratton M, Narod S, Goldgar D, 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 Genet 1998; 3: 676-89.
38. Boyd M, Harris F, McFarlane R, Davidson HR, Black DM. A human BRCA1 gene knockout. Nature 1995; 6532: 541-2.
39. Liede A, Rehal P, Vesprini D, Jack E, Abrahamson J, Narod SA. A breast cancer patient of Scottish descent with germ-line mutations in BRCA1 and BRCA2. Am J Hum Genet 1998; 6: 1543-4.
40. Bell DW, Erban J, Sgroi DC, Haber DA. Selective loss of heterozygosity in multiple breast cancers from a carrier of mutations in both BRCA1 and BRCA2. Cancer Res 2002; 10: 2741-3.
41. Friedman E, Bar-Sade BR, Kruglikova A, Risel S, Levy-Lahad E, Halle D, et al. Double heterozygotes for the Ashkenazi founder mutations in BRCA1 and BRCA2 genes. Am J Hum Genet 1998; 4: 1224-7.
42. Ramus SJ, Friedman LS, Gayther SA, Ponder BA, Bobrow L, van der LM, et al. A breast/ovarian cancer patient with germline mutations in both BRCA1 and BRCA2. Nat Genet 1997; 1: 14-5.
43. Liede A, Metcalfe K, Offit K, Brown K, Miller S, Narod SA, et al. A family with three germline mutations in BRCA1 and BRCA2. Clin Genet 1998; 3: 215-8.
44. Robson M, Scheuer L, Nafa K, Ellis N, Offit K. Unique de novo mutation of BRCA2 in a woman with early onset breast cancer. J Med Genet 2002; 2: 126-8.
45. Van der Luijt RB, van Zon PH, Jansen RP, van der Sijs-Bos CJ, Warlam-Rodenhuis CC, Ausems MG. De novo recurrent germline mutation of the BRCA2 gene in a patient with early onset breast cancer. J Med Genet 2001; 2: 102-5.
46. Tesoriero A, Andersen C, Southey M, Somers G, McKay M, Armes J, et al. De novo BRCA1 mutation in a patient with breast cancer and an inherited BRCA2 mutation. Am J Hum Genet 1999; 2: 567-9.
47. Meijers-Heijboer EJ, Verhoog LC, Brekelmans CT, Seynaeve C, Tilanus-Linthorst MM, Wagner A, et al. Presymptomatic DNA testing and prophylactic surgery in families with a BRCA1 or BRCA2 mutation. Lancet 2000; 9220: 2015-20.
48. Brose MS, Rebbeck TR, Calzone KA, Stopfer JE, Nathanson KL, Weber BL. Cancer risk estimates for BRCA1 mutation carriers identified in a risk evaluation program. J Natl Cancer Inst 2002; 18: 1365-72.
49. Antoniou AC, Pharoah PD, McMullan G, Day NE, Stratton MR, Peto J, et al. A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes. Br J Cancer 2002; 1: 76-83.
50. Cancer risks in BRCA2 mutation carriers. The Breast Cancer Linkage Consortium. J Natl Cancer Inst 1999; 15: 1310-6.
51. Haffty BG, Harrold E, Khan AJ, Pathare P, Smith TE, Turner BC, et al. Outcome of conservatively managed early-onset breast cancer by BRCA1/2 status. Lancet 2002; 9316: 1471-7.
52. Whittemore AS, Gong G, Itnyre J. Prevalence and contribution of BRCA1 mutations in breast cancer and ovarian cancer: results from three U.S. population-based case-control studies of ovarian cancer. Am J Hum Genet 1997; 3: 496-504.
53. Struewing JP, Hartge P, Wacholder S, Baker SM, Berlin M, McAdams M, et al. The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. N Engl J Med 1997; 20: 1401-8.
54. Frank TS, Deffenbaugh AM, Reid JE, Hulick M, Ward BE, Lingenfelter B, et al. Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals. J Clin Oncol 2002; 6: 1480-90.
55. Serova OM, Mazoyer S, Puget N, Dubois V, Tonin P, Shugart YY, et al. Mutations in BRCA1 and BRCA2 in breast cancer families: are there more breast cancer-susceptibility genes? Am J Hum Genet 1997; 3: 486-95.
56. Ford D, Easton DF, Bishop DT, Narod SA, Goldgar DE. Risks of cancer in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Lancet 1994; 8899: 692-5.
57. Johannsson O, Loman N, Moller T, Kristoffersson U, Borg A, Olsson H. Incidence of malignant tumours in relatives of BRCA1 and BRCA2 germline mutation carriers. Eur J Cancer 1999; 8: 1248-57.
58. Thompson D, Easton DF. Cancer Incidence in BRCA1 mutation carriers. J Natl Cancer Inst 2002; 18: 1358-65.
59. Thompson D, Easton D. Variation in BRCA1 cancer risks by mutation position. Cancer Epidemiol Biomarkers Prev 2002; 4: 329-36.
60. Gayther SA, Mangion J, Russell P, Seal S, Barfoot R, Ponder BA, et al. Variation of risks of breast and ovarian cancer associated with different germline mutations of the BRCA2 gene. Nat Genet 1997; 1: 103-5.
61. Fodor FH, Weston A, Bleiweiss IJ, McCurdy LD, Walsh MM, Tartter PI, et al. Frequency and carrier risk associated with common BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer patients. Am J Hum Genet 1998; 1: 45-51.
62. Rebbeck TR, Rogatko A, Viana MA. Evaluation of genotype data in clinical risk assessment: methods and application to BRCA1, BRCA2, and N-acetyl transferase-2 genotypes in breast cancer. Genet Test 1997; 3: 157-64.
63. Rebbeck TR. Inherited predisposition and breast cancer: modifiers of BRCA1/2-associated breast cancer risk. Environ Mol Mutagen 2002; 2-3: 228-34.
64. Kadouri L, Easton DF, Edwards S, Hubert A, Kote-Jarai Z, Glaser B, et al. CAG and GGC repeat polymorphisms in the androgen receptor gene and breast cancer susceptibility in BRCA1/2 carriers and non-carriers. Br J Cancer 2001; 1: 36-40.
65. Marquis ST, Rajan JV, Wynshaw-Boris A, Xu J, Yin GY, Abel KJ, et al. The developmental pattern of Brca1 expression implies a role in differentiation of the breast and other tissues. Nat Genet 1995; 1: 17-26.
66. Modan B, Hartge P, Hirsh-Yechezkel G, Chetrit A, Lubin F, Beller U, et al. Parity, oral contraceptives, and the risk of ovarian cancer among carriers and noncarriers of a BRCA1 or BRCA2 mutation. N Engl J Med 2001; 4: 235-40.
67. Narod SA, Risch H, Moslehi R, Dorum A, Neuhausen S, Olsson H, et al. Oral contraceptives and the risk of hereditary ovarian cancer. Hereditary Ovarian Cancer Clinical Study Group. N Engl J Med 1998; 7: 424-8.
68. Ursin G, Henderson BE, Haile RW, Pike MC, Zhou N, Diep A, et al. Does oral contraceptive use increase the risk of breast cancer in women with BRCA1/BRCA2 mutations more than in other women? Cancer Res 1997; 17: 3678-81.
69. Jernstrom H, Lerman C, Ghadirian P, Lynch HT, Weber B, Garber J, et al. Pregnancy and risk of early breast cancer in carriers of BRCA1 and BRCA2. Lancet 1999; 9193: 1846-50.
70. Johannsson O, Loman N, Borg A, Olsson H. Pregnancy-associated breast cancer in BRCA1 and BRCA2 germline mutation carriers. Lancet 1998; 9137: 1359-60.
71. Narod SA, Goldgar D, Cannon-Albright L, Weber B, Moslehi R, Ives E, et al. Risk modifiers in carriers of BRCA1 mutations. Int J Cancer 1995; 6: 394-8.
72. Hartge P, Chatterjee N, Wacholder S, Brody LC, Tucker MA, Struewing JP. Breast cancer risk in Ashkenazi BRCA1/2 mutation carriers: effects of reproductive history. Epidemiology 2002; 3: 255-61.
73. Narod SA. Hormonal prevention of hereditary breast cancer. Ann N Y Acad Sci 2001; 36-43.
74. Andrieu N, Duffy SW, Rohan TE, Le MG, Luporsi E, Gerber M, et al. Familial risk, abortion and their interactive effect on the risk of breast cancer: a combined analysis of six case-control studies. Br J Cancer 1995; 3: 744-51.
75. Narod SA, Sun P, Ghadirian P, Lynch H, Isaacs C, Garber J, et al. Tubal ligation and risk of ovarian cancer in carriers of BRCA1 or BRCA2 mutations: a case-control study. Lancet 2001; 9267: 1467-70.
76. Sellers TA, Mink PJ, Cerhan JR, Zheng W, Anderson KE, Kushi LH, et al. The role of hormone replacement therapy in the risk for breast cancer and total mortality in women with a family history of breast cancer. Ann Intern Med 1997; 11: 973-80.
77. Rebbeck TR, Levin AM, Eisen A, Snyder C, Watson P, Cannon-Albright L, et al. Breast cancer risk after bilateral prophylactic oophorectomy in BRCA1 mutation carriers. J Natl Cancer Inst 1999; 17: 1475-9.
78. Brunet JS, Ghadirian P, Rebbeck TR, Lerman C, Garber JE, Tonin PN, et al. Effect of smoking on breast cancer in carriers of mutant BRCA1 or BRCA2 genes. J Natl Cancer Inst 1998; 10: 761-6.
79. Couch FJ, Cerhan JR, Vierkant RA, Grabrick DM, Therneau TM, Pankratz VS, et al. Cigarette smoking increases risk for breast cancer in high-risk breast cancer families. Cancer Epidemiol Biomarkers Prev 2001; 4: 327-32.
80. Dagan E, Gershoni-Baruch R. Anticipation in hereditary breast cancer. Clin Genet 2002; 2: 147-50.
81. Chang-Claude J, Becher H, Eby N, Bastert G, Wahrendorf J, Hamann U. Modifying effect of reproductive risk factors on the age at onset of breast cancer for German BRCA1 mutation carriers. J Cancer Res Clin Oncol 1997; 5: 272-9.
82. Pathology of familial breast cancer: differences between breast cancers in carriers of BRCA1 or BRCA2 mutations and sporadic cases. Breast Cancer Linkage Consortium. Lancet 1997; 9064: 1505-10.
83. Crook T, Crossland S, Crompton MR, Osin P, Gusterson BA. p53 mutations in BRCA1-associated familial breast cancer. Lancet 1997; 9078: 638-9.
84. Phillips KA, Nichol K, Ozcelik H, Knight J, Done SJ, Goodwin PJ, et al. Frequency of p53 mutations in breast carcinomas from Ashkenazi Jewish carriers of BRCA1 mutations. J Natl Cancer Inst 1999; 5: 469-73.
85. Johannsson OT, Idvall I, Anderson C, Borg A, Barkardottir RB, Egilsson V, et al. Tumour biological features of BRCA1-induced breast and ovarian cancer. Eur J Cancer 1997; 3: 362-71.
86. Lakhani SR, Van De Vijver MJ, Jacquemier J, Anderson TJ, Osin PP, McGuffog L, et al. 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 2002; 9: 2310-8.
87. Hedenfalk I, Duggan D, Chen Y, Radmacher M, Bittner M, Simon R, et al. Gene-expression profiles in hereditary breast cancer. N Engl J Med 2001; 8: 539-48.
88. Narod SA, Brunet JS, Ghadirian P, Robson M, Heimdal K, Neuhausen SL, 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; 9245: 1876-81.
89. Gaffney DK, Brohet RM, Lewis CM, Holden JA, Buys SS, Neuhausen SL, et al. Response to radiation therapy and prognosis in breast cancer patients with BRCA1 and BRCA2 mutations. Radiother Oncol 1998; 2: 129-36.
90. Pierce LJ, Strawderman M, Narod SA, Oliviotto I, Eisen A, Dawson L, et al. Effect of radiotherapy after breast-conserving treatment in women with breast cancer and germline BRCA1/2 mutations. J Clin Oncol 2000; 19: 3360-9.
91. Johannsson OT, Ranstam J, Borg A, Olsson H. Survival of BRCA1 breast and ovarian cancer patients: a population-based study from southern Sweden. J Clin Oncol 1998; 2: 397-404.
92. Lee JS, Wacholder S, Struewing JP, McAdams M, Pee D, Brody LC, et al. Survival after breast cancer in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst 1999; 3: 259-63.
93. Robson M, Gilewski T, Haas B, Levin D, Borgen P, Rajan P, et al. BRCA-associated breast cancer in young women. J Clin Oncol 1998; 5: 1642-9.
94. Verhoog LC, Brekelmans CT, Seynaeve C, van den Bosch LM, Dahmen G, van Geel AN, et al. Survival and tumour characteristics of breast-cancer patients with germline mutations of BRCA1. Lancet 1998; 9099: 316-21.
95. Porter DE, Cohen BB, Wallace MR, Smyth E, Chetty U, Dixon JM, et al. Breast cancer incidence, penetrance and survival in probable carriers of BRCA1 gene mutation in families linked to BRCA1 on chromosome 17q12-21. Br J Surg 1994; 10: 1512-5.
96. Foulkes WD, Chappuis PO, Wong N, Brunet JS, Vesprini D, Rozen F, et al. Primary node negative breast cancer in BRCA1 mutation carriers has a poor outcome. Ann Oncol 2000; 3: 307-13.
97. Moller P, Borg A, Evans DG, Haites N, Reis MM, Vasen H, et al. Survival in prospectively ascertained familial breast cancer: analysis of a series stratified by tumour characteristics, BRCA mutations and oophorectomy. Int J Cancer 2002; 6: 555-9.
98. Foulkes WD, Wong N, Brunet JS, Begin LR, Zhang JC, Martinez JJ, et al. Germ-line BRCA1 mutation is an adverse prognostic factor in Ashkenazi Jewish women with breast cancer. Clin Cancer Res 1997; 12 Pt 1: 2465-9.
99. Stoppa-Lyonnet D, Ansquer Y, Dreyfus H, Gautier C, Gauthier-Villars M, Bourstyn E, et al. Familial invasive breast cancers: worse outcome related to BRCA1 mutations. J Clin Oncol 2000; 24: 4053-9.
100. 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; 17: 2260-5.
101. Pharoah PD, Easton DF, Stockton DL, Gayther S, Ponder BA. 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 1999; 4: 868-71.
102. Gotlieb WH, Friedman E, Bar-Sade RB, Kruglikova A, Hirsh-Yechezkel G, Modan B, et al. Rates of Jewish ancestral mutations in BRCA1 and BRCA2 in borderline ovarian tumors. J Natl Cancer Inst 1998; 13: 995-1000.
103. Rao GG, Ashfaq R, Schorge JO. Transitional cell ovarian carcinoma in a BRCA1 mutation carrier. Obstet Gynecol 2002; 5 Suppl 1: 944-6.
104. Rubin SC, Benjamin I, Behbakht K, Takahashi H, Morgan MA, LiVolsi VA, et al. Clinical and pathological features of ovarian cancer in women with germ-line mutations of BRCA1. N Engl J Med 1996; 19: 1413-6.
105. Ben David Y, Chetrit A, Hirsh-Yechezkel G, Friedman E, Beck BD, Beller U, et al. Effect of BRCA mutations on the length of survival in epithelial ovarian tumors. J Clin Oncol 2002; 2: 463-6.
106. Buller RE, Shahin MS, Geisler JP, Zogg M, De Young BR, Davis CS. Failure of BRCA1 dysfunction to alter ovarian cancer survival. Clin Cancer Res 2002; 5: 1196-202.
107. Jazaed AA, Yee CJ, Sotiriou C, Brantley KR, Boyd J, Liu ET. Gene expression profiles of BRCA1-linked, BRCA2-linked, and sporadic ovarian cancers. J Natl Cancer Inst 2002; 13: 990-1000.
108. Narod S. What options for treatment of hereditary breast cancer? Lancet 2002; 9316: 1451-2.
109. Athma P, Rappaport R, Swift M. Molecular genotyping shows that ataxia-telangiectasia heterozygotes are predisposed to breast cancer. Cancer Genet Cytogenet 1996; 2: 130-4.
110. Easton DF. How many more breast cancer predisposition genes are there? Breast Cancer Res 1999; 1: 14-7.
111. Kerangueven F, Essioux L, Dib A, Noguchi T, Allione F, Geneix J, et al. Loss of heterozygosity and linkage analysis in breast carcinoma: indication for a putative third susceptibility gene on the short arm of chromosome 8. Oncogene 1995; 5: 1023-6.
112. Rahman N, Teare MD, Seal S, Renard H, Mangion J, Cour C, et al. Absence of evidence for a familial breast cancer susceptibility gene at chromosome 8p12-p22. Oncogene 2000; 36: 4170-3.
113. Kainu T, Juo SH, Desper R, Schaffer AA, Gillanders E, Rozenblum E, et al. Somatic deletions in hereditary breast cancers implicate 13q21 as a putative novel breast cancer susceptibility locus. Proc Natl Acad Sci USA 2000; 17: 9603-8.
114. Thompson D, Szabo CI, Mangion J, Oldenburg RA, Odefrey F, Seal S, et al. Evaluation of linkage of breast cancer to the putative BRCA3 locus on chromosome 13q21 in 128 multiple case families from the Breast Cancer Linkage Consortium. Proc Natl Acad Sci USA 2002; 2: 827-31.
115. Chenevix-Trench G, Spurdle AB, Gatei M, Kelly H, Marsh A, Chen X, et al. Dominant negative ATM mutations in breast cancer families. J Natl Cancer Inst 2002; 3: 205-15.
116. Meijers-Heijboer H, van den OA, Klijn J, Wasielewski M, de Snoo A, Oldenburg R, et al. Low-penetrance susceptibility to breast cancer due to CHEK2 (*)1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat Genet 2002; 1: 55-9.
117. Antoniou AC, Pharoah PD, McMullan G, Day NE, Ponder BA, Easton D. Evidence for further breast cancer susceptibility genes in addition to BRCA1 and BRCA2 in a population-based study. Genet Epidemiol 2001; 1: 1-18.
118. Cui J, Antoniou AC, Dite GS, Southey MC, Venter DJ, Easton DF, et al. After BRCA1 and BRCA2-what next? Multifactorial segregation analyses of three-generation, population-based Australian families affected by female breast cancer. Am J Hum Genet 2001; 2: 420-31.
119. 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; 10: 843-54.
120. de Jong MM, Nolte IM, te Meerman GJ, van der Graaf WT, Oosterwijk JC, Kleibeuker JH, et al. Genes other than BRCA1 and BRCA2 involved in breast cancer susceptibility. J Med Genet 2002; 4: 225-42.
121. Couch FJ, DeShano ML, Blackwood MA, Calzone K, Stopfer J, Campeau L, et al. BRCA1 mutations in women attending clinics that evaluate the risk of breast cancer. N Engl J Med 1997; 20: 1409-15.
122. Parmigiani G, Berry D, Aguilar O. Determining carrier probabilities for breast cancer-susceptibility genes BRCA1 and BRCA2. Am J Hum Genet 1998; 1: 145-58.
123. Shattuck-Eidens D, Oliphant A, McClure M, McBride C, Gupte J, Rubano T, et al. BRCA1 sequence analysis in women at high risk for susceptibility mutations. Risk factor analysis and implications for genetic testing. JAMA 1997; 15: 1242-50.
124. Berry DA, Iversen ES, Jr., Gudbjartsson DF, Hiller EH, Garber JE, Peshkin BN, et al. BRCAPRO Validation, Sensitivity of Genetic Testing of BRCA1/BRCA2, and Prevalence of Other Breast Cancer Susceptibility Genes. J Clin Oncol 2002; 11: 2701-12.
125. Expertise collective INSERM. Risques héréditaires de cancers du sein et de l'ovaire. Quelle prise en charge? 1998; 597-616.
126. Brekelmans CT, Seynaeve C, Bartels CC, Tilanus-Linthorst MM, Meijers-Heijboer EJ, Crepin CM, et al. Effectiveness of breast cancer surveillance in BRCA1/2 gene mutation carriers and women with high familial risk. J Clin Oncol 2001; 4: 924-30.
127. Goffin J, Chappuis PO, Wong N, Foulkes WD. Re: Magnetic resonance imaging and mammography in women with a hereditary risk of breast cancer. J Natl Cancer Inst 2001; 22: 1754-5.
128. Formenti SC, Preston-Martin S, Haffty BG. BRCA1/2 germline mutations: a marker for radioresistance or radiosensitivity? J Clin Oncol 2000; 5: 1159-60.
129. Kuhl CK, Schmutzler RK, Leutner CC, Kempe A, Wardelmann E, Hocke A, etal. Breast MR imaging screening in 192 women proved or suspected to be carriers of a breast cancer susceptibility gene: preliminary results. Radiology 2000; 1: 267-79.
130. Stoutjesdijk MJ, Boetes C, Jager GJ, Beex L, Buit P, Hendriks JH, et al. Magnetic resonance imaging and mammography in women with a hereditary risk of breast cancer. J Natl Cancer Inst 2001; 14: 1095-102.
131. Warner E, Plewes DB, Shumak RS, Catzavelos GC, Di Prospero LS, Yaffe MJ, et al. Comparison of breast magnetic resonance imaging, mammography, and ultrasound for surveillance of women at high risk for hereditary breast cancer. J Clin Oncol 2001; 15: 3524-31.
132. Evron E, Dooley WC, Umbricht CB, Rosenthal D, Sacchi N, Gabrielson E, et al. Detection of breast cancer cells in ductal lavage fluid by methylation-specific PCR. Lancet 2001; 9265: 1335-6.
133. Dooley WC, Ljung BM, Veronesi U, Cazzaniga M, Elledge RM, O'Shaughnessy JA, et al. Ductal lavage for detection of cellular atypia in women at high risk for breast cancer. J Natl Cancer Inst 2001; 21: 1624-32.
134. Mokbel K, Elkak AE. The evolving role of mammary ductoscopy. Curr Med Res Opin 2002; 1: 30-2.
135. Cohen LS, Escobar PF, Scharm C, Glimco B, Fishman DA. Three-dimensional power Doppler ultrasound improves the diagnostic accuracy for ovarian cancer prediction. Gynecol Oncol 2001; 1: 40-8.
136. Kim JH, Skates SJ, Uede T, Wong Kk KK, Schorge JO, Feltmate CM, et al. Osteopontin as a potential diagnostic biomarker for ovarian cancer. JAMA 2002; 13: 1671-9.
137. Petricoin EF, Ardekani AM, Hitt BA, Levine PJ, Fusaro VA, Steinberg SM, et al. Use of proteomic patterns in serum to identify ovarian cancer. Lancet 2002; 9306: 572-7.
138. Meijers-Heijboer H, van Geel B, van Putten WL, Henzen-Logmans SC, Seynaeve C, Menke-Pluymers MB, et al. Breast cancer after prophylactic bilateral mastectomy in women with a BRCA1 or BRCA2 mutation. N Engl J Med 2001; 3: 159-64.
139. Schrag D, Kuntz KM, Garber JE, Weeks JC. Decision analysis: effects of prophylactic mastectomy and oophorectomy on life expectancy among women with BRCA1 or BRCA2 mutations. N Engl J Med 1997; 20: 1465-71.
140. Hartmann LC, Schaid DJ, Woods JE, Crotty TP, Myers JL, Arnold PG, et al. Efficacy of bilateral prophylactic mastectomy in women with a family history of breast cancer. N Engl J Med 1999; 2: 77-84.
141. Rebbeck TR, Lynch HT, Neuhausen SL, Narod SA, Van't Veer L, Garber JE et al. Prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations. N Engl J Med 2002; 21: 1616-22.
142. Morice P, Pautier P, Delaloge S, Camatte S, Spatz A, Chompret A, et al. Surgical management for prophylactic oophorectomy in women with an inherited risk of ovarian cancer. Tumori 2001; 4: S16-7.
143. Eisen A, Rebbeck TR, Wood WC, Weber BL. Prophylactic surgery in women with a hereditary predisposition to breast and ovarian cancer. J Clin Oncol 2000; 9: 1980-95.
144. Kauff ND, Satagopan JM, Robson ME, Scheuer L, Hensley M, Hudis CA, et al. Risk-reducing salpingo-oophorectomy in women with a BRCA1 or BRCA2 mutation. N Engl J Med 2002; 21: 1609-15.
145. Casey MJ, Bewtra C, Hoehne LL, Tatpati AD, Lynch HT, Watson P. Histology of prophylactically removed ovaries from BRCA1 and BRCA2 mutation carriers compared with noncarriers in hereditary breast ovarian cancer syndrome kindreds. Gynecol Oncol 2000; 3 Pt 1: 278-87.
146. Stratton JF, Buckley CH, Lowe D, Ponder BA. Comparison of prophylactic oophorectomy specimens from carriers and noncarriers of a BRCA1 or BRCA2 gene mutation. United Kingdom Coordinating Committee on Cancer Research (UKCCCR) Familial Ovarian Cancer Study Group. J Natl Cancer Inst 1999; 7: 626-8.
147. Powles TJ. Breast cancer prevention. Oncologist 2002; 1: 60-4.
148. King MC, Wieand S, Hale K, Lee M, Walsh T, Owens 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; 18: 2251-6.
149. Powles T, Eeles R, Ashley S, Easton D, Chang J, Dowsett M, et al. Interim analysis of the incidence of breast cancer in the Royal Marsden Hospital tamoxifen randomised chemoprevention trial. Lancet 1998; 9122: 98-101.
150. Veronesi U, Maisonneuve P, Costa A, Sacchini V, Maltoni C, Robertson C, et al. Prevention of breast cancer with tamoxifen: preliminary findings from the Italian randomised trial among hysterectomised women. Italian Tamoxifen Prevention Study. Lancet 1998; 9122: 93-7.
151. Van Roosmalen MS, Verhoef LC, Stalmeier PF, Hoogerbrugge N, van Daal WA. Decision analysis of prophylactic surgery or screening for BRCA1 mutation carriers: a more prominent role for oophorectomy. J Clin Oncol 2002; 8: 2092-100.
152. Scheuer L, Kauff N, Robson M, Kelly B, Barakat R, Satagopan J, et al. Outcome of preventive surgery and screening for breast and ovarian cancer in BRCA mutation carriers. J Clin Oncol 2002; 5: 1260-8.
153. Newman B, Mu H, Butler LM, Millikan RC, Moorman PG, King MC. Frequency of breast cancer attributable to BRCA1 in a population-based series of American women. JAMA 1998; 12: 915-21.
154. Malone KE, Daling JR, Thompson JD, O'Brien CA, Francisco LV, Ostrander EA. BRCA1 mutations and breast cancer in the general population: analyses in women before age 35 years and in women before age 45 years with first-degree family history. JAMA 1998; 12: 922-9.
155. Haraldsson K, Loman N, Zhang QX, Johannsson O, Olsson H, Borg A. BRCA2 germ-line mutations are frequent in male breast cancer patients without a family history of the disease. Cancer Res 1998; 7: 1367-71.
156. Rubin SC, Blackwood MA, Bandera C, Behbakht K, Benjamin I, Rebbeck TR, et al. BRCA1, BRCA2, and hereditary nonpolyposis colorectal cancer gene mutations in an unselected ovarian cancer population: relationship to family history and implications for genetic testing. Am J Obstet 1998; 4: 670-7.
157. Tonin P, Weber B, Offit K, Couch F, Rebbeck TR, Neuhausen S, et al. Frequency of recurrent BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer families. Nat Med 1996; 11: 1179-83.
158. Thorlacius S, Sigurdsson S, Bjarnadottir H, Olafsdottir G, Jonasson JG, Tryggvadottir L, et al. Study of a single BRCA2 mutation with high carrier frequency in a small population. Am J Hum Genet 1997; 5: 1079-84.
159. Ford D, Easton DF, Peto J. Estimates of the gene frequency of BRCA1 and its contribution to breast and ovarian cancer incidence. Am J Hum Genet 1995; 6: 1457-62.
160. Warner E, Foulkes W, Goodwin P, Meschino W, Blondal J, Paterson C, et al. Prevalence and penetrance of BRCA1 and BRCA2 gene mutations in unselected Ashkenazi Jewish women with breast cancer. J Natl Cancer Inst 1999; 14: 1241-7.
161. Thorlacius S, Struewing JP, Hartge P, Olafsdottir GH, Sigvaldason H, Tryggvadottir L, et al. Population-based study of risk of breast cancer in carriers of BRCA2 mutation. Lancet 1998; 9137: 1337-9.