Breast carcinomas arising in carriers of mutations in BRCA1 or BRCA2: Are they prognostically different?

Journal of Clinical Oncology

Volumn 17, Issue 11, 1999, Pages 3653-3663

  Phillips, Kelly Anne ^a   Andrulis, Irene L ^a   Goodwin, Pamela J ^a  

^a MOUNT SINAI HOSPITAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

BREAST CARCINOMA; CANCER GENETICS; DNA DETERMINATION; DNA STRAND BREAKAGE; GENE MUTATION; HUMAN; ONCOGENE; PRIORITY JOURNAL; REVIEW;

EID: 0032745897     PISSN: 0732183X     EISSN: None     Source Type: Journal    
DOI: 10.1200/JCO.1999.17.11.3653     Document Type: Review

References (86)

1. Miki Y, Swenson J, Shattuck-Eidens D, et al: A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 266:66-71, 1994
2. Wooster R, Bignell G, Lancaster J, et al: Identification of the breast cancer susceptibility gene BRCA2. Nature 378:789-792, 1995
3. Ford D, Easton DF, Bishop DT, et al: Risks of cancer in BRCA1 mutation carriers. Lancet 343:692-695, 1994
4. Phelan CM, Lancaster JM, Tonin P, et al: Mutation analysis of the BRCA2 gene in 49 site-specific breast cancer families. Nat Genet 13:120-122, 1996
5. Streuwing JP, Hartge P, Wacholder S, et al: The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. N Engl J Med 336:1401-1408, 1997
6. Thorlacius S, Streuwing JP, Hartge P, et al: Population-based study of risk of breast cancer in carriers of BRCA2 mutation. Lancet 352:1337-1339, 1998
7. Easton DF, Ford D, Bishop DT, et al: Breast and ovarian cancer incidence in BRCA1-mutation carriers. Am J Hum Genet 56:265-271, 1995
8. Langsten AA, Malone KE, Thompson JD, et al: BRCA1 mutations in a population-based sample of young women with breast cancer. N Engl J Med 334:137-142, 1996
9. Fitzgerald MG, MacDonald DJ, Krainer M, et al: Germ-line BRCA1 mutations in Jewish and non-Jewish women with early-onset breast cancer. N Engl J Med 334:143-149, 1996
10. Krainer M, Silva-Arrieta S, Fitzgerald MG, et al: Differential contributions of BRCA1 and BRCA2 to early-onset breast cancer. N Engl J Med 336:1416-1421, 1997
11. Abeliovich D, Kaduri L, Lerer I, et al: The founder mutations 185delAG and 5382insC in BRCA1 and 6174delT in BRCA2 appear in 60% of ovarian cancer and 30% of early-onset breast cancer patients among Ashkenazi women. Am J Hum Genet 60:505-514, 1997
12. Futreal PA, Liu Q, Shattuck-Eidens D, et al: BRCA1 mutations in primary breast and ovarian carcinomas. Science 266:120-122, 1995
13. Lancaster JM, Wooster R, Mangion J, et al: BRCA2 mutations in primary breast and ovarian cancers. Nat Genet 13:238-240, 1996
14. Teng D, Bogden R, Mitchell J, et al: Low incidence of BRCA2 mutations in breast carcinomas and other cancers. Nat Genet 13:241-244, 1996
15. Miki Y, Katagiri T, Kasumi F, et al: Mutation analysis in the BRCA2 gene in primary breast cancers. Nat Genet 13:245-247, 1996
16. Thompson ME, Jensen RA, Obermiller PS, et al: Decreased expression of BRCA1 accelerates growth and is often present during sporadic breast cancer progression. Nat Genet 9:444-450, 1995
17. Dobrovic A, Simpfendorfer D: Methylation of the BRCA1 gene in sporadic breast cancer. Cancer Res 57:3347-3350, 1997
18. Mancini DN, Rodenhiser DI, Ainsworth PJ, et al: CpG methylation within the 5' regulatory region of the BRCA1 gene is tumor specific and includes a putative CREB binding site. Oncogene 16:1161-1169, 1998
19. Wilson CA, Ramos L, Villasenor MR, et al: Localization of human BRCA1 and its loss in high-grade, non-inherited bresat carcinomas. Nat Genet 21:236-240, 1999
20. Marcus JN, Page DL, Watson P, et al: BRCA1 and BRCA2 hereditary breast carcinoma phenotypes. Cancer 80:543-556, 1997
21. Phillips KA: Breast carcinoma in carriers of BRCA1 or BRCA2 mutations: Implications of proposed distinct histologic phenotypes. Cancer 83:2251-2254, 1998
22. Johannsson OT, Idvall I, Anderson C, et al: Tumor biological features of BRCA1-induced breast and ovarian cancer. Eur J Cancer 33:362-371, 1997
23. Crook T, Brooks LA, Crossland S, et al: p53 mutation with frequent novel codons but not a mutator phenotype in BRCA1- and BRCA2-associated breast tumours. Oncogene 17:1681-1689, 1998
24. Robson M, Rajan P, Rosen PP, et al: BRCA-associated breast cancer: Absence of a characteristic immunophenotype. Cancer Res 58:1839-1842, 1998
25. Phillips KA, Nichol K, Ozcelik H, et al: Frequency of p53 mutations in breast carcinomas of Ashkenazi Jewish BRCA1 mutation carriers. J Natl Cancer Inst 91:469-473:1999
26. Clark GM. Prognostic and predictive factors, in Harris JR, Lippman ME, Morrow M, Hellman S (eds): Diseases of the Breast. Philadelphia, PA, Lippincott-Raven, 1996, pp 461-485
27. Elledge RM, Allred DC: The p53 tumor suppressor gene in breast cancer. Br Cancer Res Treat 32:39-47, 1994
28. Slamon DJ, Clark GM, Wong SG, et al: Human breast cancer: Correlation of relapse and survival with amplification of the HER-2/neu oncogene. Science 25:177-182, 1987
29. Tandon AK, Clark GM, Chamness GC, et al: HER-2/neu oncogene protein and prognosis in breast cancer. J Clin Oncol 7:1120-1128, 1989
30. Slamon DJ, Godolphin W, Jones LA, et al: Studies of the HER-2/neu proto-oncogene in human breast and ovarian cancer. Science 244:707-712, 1989
31. Paterson MC, Dietrich KD, Danyluk J, et al: Correlation between c-erbB-2 amplification and risk of recurrent disease in node-negative breast cancer. Cancer Res 51:556-567, 1991
32. Seshadri R, Firgaira FA, Horsfall DJ, et al: Clinical significance of HER-2/neu oncogene amplification in primary breast cancer: The South Australian Breast Cancer Study Group. J Clin Oncol 11:1936-1942, 1993
33. Andrulis IL, Bull SB, Blackstein ME, et al: neu/erbB-2 amplification identifies a poor-prognosis group of women with node-negative breast cancer. J Clin Oncol 16:1340-1349, 1998
34. Early Breast Cancer Trialists' Collaborative Group: Polychemotherapy for early breast cancer: An overview of the randomized trials. Lancet 352:930-942, 1998
35. Early Breast Cancer Trialists' Collaborative Group. Tamoxifen for early breast cancer: An overview of the randomized trials. Lancet 351:1451-1467, 1998
36. Ragaz J, Jackson S, Le N, et al: Adjuvant radiotherapy and chemotherapy in node-positive premenopausal women with breast cancer. N Engl J Med 337:956-962, 1997
37. Overgaard M, Hanse PS, Overgaard J, et al: Prospective radiotherapy in high-risk premenopausal women with breast cancer who receive adjuvant chemotherapy: Danish Breast Cancer Cooperative Group 82b Trial. N Engl J Med 337:949-955, 1997
38. Diel IJ, Solomayer E-F, Costa SD, et al: Reduction in new metastases in breast cancer with adjuvant clodronate treatment. N Engl J Med 339:357-363, 1998
39. Sackett DL, Haynes RB, Guyatt GH, et al: Making a prognosis, in Sackett DL, et al (eds): Clinical Epidemiology: A Basic Science for Clinical Medicine (ed 2). Boston, MA, Little, Brown, 1991, pp 173-185
40. Marcus JN, Watson P, Page DL, et al: Hereditary breast cancer: Pathobiology, prognosis and BRCA1 and BRCA2 gene linkage. Cancer 77:697-709, 1996
41. Verhoog LC, Brekelmans CTM, Seynaeve C, et al: Survival and tumor characteristics of breast-cancer patients with germline mutations of BRCA1. Lancet 351:316-321, 1998
42. Ansquer Y, Gautier C, Fourquet A, et al: Survival in early-onset breast cancer patients. Lancet 352:541, 1998 (letter)
43. Agnarsson BA, Jonasson JG, Bjornsdottir IB, et al: Inherited BRCA2 mutation associated with high grade breast cancer. Breast Cancer Res Treat 47:121-127, 1998
44. Eisinger F, Stoppa-Lyonnet D, Longy M, et al: Germ line mutation at BRCA1 affects the histoprognostic grade in hereditary breast cancer. Cancer Res 56:471-474, 1996
45. Karp SE, Tonin PN, Begin LR, et al: Influence of BRCA1 mutations on nuclear grade and estrogen receptor status of breast carcinoma in Ashkenazi Jewish women. Cancer 80:435-441, 1997
46. Robson M, Gilewski T, Haas B, et al: BRCA-associated breast cancer in young women. J Clin Oncol 16:1642-1649, 1998
47. Loman N, Johannsson O, Bendahl P-O, et al: Steroid receptors in hereditary breast carcinomas associated with BRCA1 or BRCA2 mutations or unknown susceptibility genes. Cancer 83:310-319, 1998
48. Armes JA, Egan AJM, Southey MC, et al: The histologic phenotypes of breast carcinoma occurring before age 40 years in women with and without BRCA1 or BRCA2 germline mutations: A population-based study. Cancer 83:2335-2345, 1998
49. Lakhani SR, Jacquemier J, Sloane JP, et al: Multifactorial analysis of differences between sporadic breast cancers and cancers involving BRCA1 and BRCA2 mutations. J Natl Cancer Inst 90:1138-1145, 1998
50. Marcus JN, Watson P, Page DL, et al: BRCA2 hereditary breast cancer phenotype. Breast Cancer Res Treat 44:275-277, 1997
51. Oza AM, Tannock IF: Clinical relevance of breast cancer biology. Hematol Oncol Clin North Am 8:1-14, 1994
52. Scully R, Chen J, Plug A, et al: Association of BRCA1 with Rad51 in mitotic and meiotic cells. Cell 88:265-275, 1997
53. Katagiri T, Saito H, Shinohara A, et al: Multiple possible sites of BRCA2 interacting with DNA repair protein RAD51. Genes Chromosom Cancer 21:217-222, 1998
54. Zhang H, Tombline G, Weber B: BRCA1, BRCA2, and DNA damage response: Collision or collusion? Cell 92:433-436, 1998
55. Hakem R, de la Pompa JL, Elia A, et al: Partial rescue of BRCA1 early embryonic lethality by p53 or p21 null mutation. Nat Genet 16:298-301, 1996
56. Ludwig T, Chapman DL, Papaioannou VE, et al: Targeted mutations of breast cancer susceptibility gene homologs in mice: Lethal phenotypes of BRCA1, BRCA2, BRCA1/BRCA2, BRCA1/p53, and BRCA2/p53 nullizygous embryos. Genes Dev 11:1226-1241, 1997
57. Glebov OK, McKenzie KE, White CA, et al: Frequent p53 gene mutations and novel alleles in familial breast cancer. Cancer Res 54:3703-3709, 1994
58. Gretarsdottir S, Thorlacius S, Valgardsdottir R, et al: BRCA2 and p53 mutations in primary breast cancer in relation to genetic instability. Cancer Res 58:859-862, 1998
59. Eiriksdottir G, Barkardottir RB, Agnarsson BA, et al: High incidence of loss of heterozygosity at chromosome 17p13 in breast tumors from BRCA2 mutation carriers. Oncogene 16:21-26, 1998
60. Lehrer S, Lee P, Tartter P, et al: Breast cancer and family history: A multivariate analysis of levels of tumor HER2 protein and a family history of cancer in women who have breast cancer. Mt Sinai J Med 62:415-418, 1995
61. Lynch HT, Albano W, Recerbaren J, et al: Prolonged survival as a component of a hereditary breast and nonpolyposis colon cancer. Med Hypotheses 7:1201-1209, 1981
62. Albano WA, Recabaren JA, Lynch HT, et al: Natural history of hereditary cancer of the breast and colon. Cancer 50:360-363, 1982
63. Anderson DE, Badzioch MD: Survival in familial breast cancer patients. Cancer 58:360-365, 1986
64. Wobbes T, van de Wiel MP, van der Sluis RF, et al: The effect of familiality on clinical presentation and survival in mammary carcinoma. Eur J Surg 13:119-121, 1987
65. Ruder AM, Moodie PF, Nelson NA, et al: Does family history of breast cancer improve survival among patients with breast cancer? Am J Obstet Gynecol 158:963-968, 1988
66. Lees AW, Jenkins HJ, May CL, et al: Risk factors and 10-year breast cancer survival in northern Alberta. Br Cancer Res Treat 13:143-151, 1989
67. Fukutomi T, Kobayashi Y, Nanasawa T, et al: A clinicopathological analysis of breast cancer in patients with a family history. Surg Today 23:849-854, 1993
68. Slattery ML, Berry TD, Kerber RA: Is survival among women diagnosed with breast cancer influenced by family history of breast cancer. Epidemiology 4:543-548, 1993
69. Malone KE, Daling JR, Weiss NS, et al: Family history and survival of young women with invasive breast carcinoma. Cancer 78:1417-1425, 1996
70. Porter DE, Cohen BB, Wallace MR, 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 81:1512-1515, 1994
71. Bieche I, Nogues C, Rivoilan S, et al: Prognostic value of loss of heterozygosity at BRCA2 in human breast carcinoma. Br J Cancer 76:1416-1418, 1997
72. van den Berg J, Johannsson O, Hakansson S, et al: Allelic loss at chromosome 13q12-q13 is associated with poor prognosis in familial and sporadic breast cancer. Br J Cancer 74:1615-1619, 1996
73. Johannsson OT, Ranstam J, Borg A, et al: Survival of BRCA1 breast and ovarian cancer patients: A population-based study from southern Sweden. J Clin Oncol 16:397-404, 1998
74. Gaffney DK, Brohet RM, Lewis CM, et al: Response to radiation therapy and prognosis in breast cancer patients with BRCA1 and BRCA2 mutations. Radiother Oncol 47:129-136, 1998
75. Lee JS, Wacholder S, Streuwing JP, et al: Survival after breast cancer in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst 91:259-263, 1999
76. Cleton-Jansen AM, Collins N, Lakhani SR, et al: Loss of heterozygosity in sporadic breast tumors at the BRCA2 locus on chromosome 13q12-q13. Br J Cancer 72:1241-1244, 1995
77. Beckmann MW, Picard F, An HX, et al: Clinical impact of detection of loss of heterozygosity of BRCA1 and BRCA2 markers in sporadic breast cancer. Br J Cancer 73:1220-1226, 1996
78. Abbott DW, Freeman ML, Holt JT: Double-strand break repair deficiency and radiation sensitivity in BRCA2 mutant cancer cells. J Natl Cancer Inst 90:978-985, 1998
79. Sharan SK, Morimatsu M, Albrecht U, et al: Embryonic lethality and radiation hypersensitivity mediated by Rad51 in mice lacking BRCA2. Nature 386:804-810, 1997
80. Connor F, Bertwhistle D, Mee PJ, et al: Tumorigenesis and a DNA repair defect in mice with a truncating BRCA2 mutation. Nat Genet 17:423-430, 1997
81. Gowen LC, Avrutskaya AV, Latour AM, et al: BRCA1 required for transcription-coupled repair of oxidative DNA damage. Science 281:1009-1012, 1998
82. Husain A, He G, Venkatraman ES, et al: BRCA1 up-regulation is associated with repair-mediated resistance to cis-diamminedichloroplatinum (II). Cancer Res 58:1120-1123, 1998
83. National Cancer Institute of Canada: Canadian Cancer Statistics 1998. Toronto, Canada, National Cancer Institute of Canada, 1998
84. Landis SH, Murray T, Bolden S, et al: Cancer statistics, 1998. CA Cancer J Clin 48:6-29, 1998 (published errata appear in CA Cancer J Clin 48:192, 1998, and 48:329, 1998)
85. Landis SH, Murray T, Bolden S, et al: Cancer statistics, 1998. CA Cancer J Clin 48:6-29, 1998 (published errata appear in CA Cancer J Clin 48:192, 1998, and 48:329, 1998)
86. Landis SH, Murray T, Bolden S, et al: Cancer statistics, 1998. CA Cancer J Clin 48:6-29, 1998 (published errata appear in CA Cancer J Clin 48:192, 1998, and 48:329, 1998)