Molecular alterations in sporadic breast cancer

Critical Reviews in Oncology/Hematology

Volumn 44, Issue 2, 2002, Pages 121-141

  Lerebours, Florence ^a   Lidereau, R ^a  

^a CENTRE RENÉ HUGUENIN   (France)

Author keywords

Breast cancer; Genetic alterations; Oncogene; Tumor suppressor gene

Indexed keywords

GENOMIC DNA; MONOCLONAL ANTIBODY; ONCOPROTEIN; TUMOR SUPPRESSOR PROTEIN;

APOPTOSIS; BREAST CARCINOGENESIS; BREAST CARCINOMA; CANCER DIAGNOSIS; CELL AGING; CELL CYCLE; CHROMOSOME ABERRATION; CHROMOSOME SEGREGATION; CLINICAL TRIAL; DNA CONTENT; DNA REPAIR; DRUG TARGETING; FAMILIAL CANCER; GENE AMPLIFICATION; GENE EXPRESSION; GENE FUNCTION; GENE INACTIVATION; GENE LOCUS; GENE LOSS; GENE MUTATION; GENE OVEREXPRESSION; GENETIC STABILITY; HUMAN; METASTASIS; MITOSIS; ONCOGENE; PREDICTION; PROGNOSIS; REVIEW; SIGNAL TRANSDUCTION; TUMOR SUPPRESSOR GENE;

EID: 0036876166     PISSN: 10408428     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1040-8428(01)00191-3     Document Type: Review

References (287)

1. Ewers S.B., Langstrom E., Baldetorp B., Killander D. Flow-cytometric DNA analysis in primary breast carcinomas and clinicopathological correlations. Cytometry. 5:1984;408-419.
2. Wenger C.R., Clark G.M. S-phase fraction and breast cancer - a decade of experience. Breast Cancer Res. Treat. 51:1998;255-265.
3. Rodriguez E., Sreekantaiah C., Chaganti R.S. Genetic changes in epithelial solid neoplasia. Cancer Res. 54:1994;3398-3406.
4. Mertens F., Johansson B., Hoglund M., Mitelman F. Chromosomal imbalance maps of malignant solid tumors: a cytogenetic survey of 3185 neoplasms. Cancer Res. 57:1997;2765-2780.
5. Pollack J.R., Perou C.M., Alizadeh A.A., et al. Genome-wide analysis of DNA copy-number changes using cDNA microarrays. Nat. Genet. 23:1999;41-46.
6. Dutrillaux B., Gerbault-Seureau M., Zafrani B. Characterization of chromosomal anomalies in human breast cancer. A comparison of 30 paradiploid cases with few chromosome changes. Cancer Genet. Cytogenet. 49:1990;203-217.
7. Muleris M., Almeida A., Gerbault-Seureau M., Malfoy B., Dutrillaux B. Detection of DNA amplification in 17 primary breast carcinomas with homogeneously staining regions by a modified comparative genomic hybridization technique. Genes Chromosomes Cancer. 10:1994;160-170.
8. Tirkkonen M., Tanner M., Karhu R., Kallioniemi A., Isola J., Kallioniemi O.P. Molecular cytogenetics of primary breast cancer by CGH. Genes Chromosomes Cancer. 21:1998;177-184.
9. Borg A., Zhang Q.X., Olsson H., Wenngren E. Chromosome 1 alterations in breast cancer: allelic loss on 1p and 1q is related to lymphogenic metastases and poor prognosis. Genes Chromosomes Cancer. 5:1992;311-320.
10. Kreipe H., Feist H., Fischer L., et al. Amplification of c-myc but not of c-erbB-2 is associated with high proliferative capacity in breast cancer. Cancer Res. 53:1993;1956-1961.
11. Kallioniemi A., Kallioniemi O.P., Piper J., et al. Detection and mapping of amplified DNA sequences in breast cancer by comparative genomic hybridization. Proc. Natl. Acad. Sci. USA. 91:1994;2156-2160.
12. Theillet C., Adnane J., Szepetowski P., et al. BCL-1 participates in the 11q13 amplification found in breast cancer. Oncogene. 5:1990;147-149.
13. Bieche I., Tomasetto C., Regnier C.H., Moog-Lutz C., Rio M.C., Lidereau R. Two distinct amplified regions at 17q11-q21 involved in human primary breast cancer. Cancer Res. 56:1996;3886-3890.
14. Champeme M.H., Bieche I., Lizard S., Lidereau R. 11q13 amplification in local recurrence of human primary breast cancer. Genes Chromosomes Cancer. 12:1995;128-133.
15. Tanner M.M., Tirkkonen M., Kallioniemi A., et al. Independent amplification and frequent co-amplification of three nonsyntenic regions on the long arm of chromosome 20 in human breast cancer. Cancer Res. 56:1996;3441-3445.
16. Ried T., Just K.E., Holtgreve-Grez H., et al. Comparative genomic hybridization of formalin-fixed, paraffin-embedded breast tumors reveals different patterns of chromosomal gains and losses in fibroadenomas and diploid and aneuploid carcinomas. Cancer Res. 55:1995;5415-5423.
17. Nishizaki T., DeVries S., Chew K., et al. Genetic alterations in primary breast cancers and their metastases: direct comparison using modified comparative genomic hybridization. Genes Chromosomes Cancer. 19:1997;267-272.
18. Knudson A.G. Jr. Mutation and cancer: statistical study of retinoblastoma. Proc. Natl. Acad. Sci. USA. 68:1971;820-823.
19. Devilee P., van Vliet M., van Sloun P., et al. Allelotype of human breast carcinoma: a second major site for loss of heterozygosity is on chromosome 6q. Oncogene. 6:1991;1705-1711.
20. Kerangueven F., Noguchi T., Coulier F., et al. Genome-wide search for loss of heterozygosity shows extensive genetic diversity of human breast carcinomas. Cancer Res. 57:1997;5469-5474.
21. Wooster R., Cleton-Jansen A.M., Collins N., et al. Instability of short tandem repeats (microsatellites) in human cancers. Nat. Genet. 6:1994;152-156.
22. Lengauer C., Kinzler K.W., Vogelstein B. Genetic instability in colorectal cancers. Nature. 386:1997;623-627.
23. Peltomaki P., Lothe R.A., Aaltonen L.A., et al. Microsatellite instability is associated with tumors that characterize the hereditary non-polyposis colorectal carcinoma syndrome. Cancer Res. 53:1993;5853-5855.
24. Cahill D.P., Lengauer C., Yu J., et al. Mutations of mitotic checkpoint genes in human cancers. Nature. 392:1998;300-303.
25. Zhou H., Kuang J., Zhong L., et al. Tumour amplified kinase STK15/BTAK induces centrosome amplification, aneuploidy and transformation. Nat. Genet. 20:1998;189-193.
26. Fukasawa K., Choi T., Kuriyama R., Rulong S., Van de Woude G.F. Abnormal centrosome amplification in the absence of p53. Science. 271:1996;1744-1747.
27. Bieche I., Khodja A., Lidereau R. Deletion mapping of chromosomal region 1p32-pter in primary breast cancer. Genes Chromosomes Cancer. 24:1999;255-263.
28. Hoggard N., Brintnell B., Howell A., Weissenbach J., Varley J. Allelic imbalance on chromosome 1 in human breast cancer. II. Microsatellite repeat analysis. Genes Chromosomes Cancer. 12:1995;24-31.
29. Nagai H., Negrini M., Carter S.L., et al. Detection and cloning of a common region of loss of heterozygosity at chromosome 1p in breast cancer. Cancer Res. 55:1995;1752-1757.
30. Loupart M.L., Armour J., Walker R., Adams S., Brammar W., Varley J.M. Allelic imbalance on chromosome 1 in human breast cancer. I. Minisatellite and RFLP analysis. Genes Chromosomes Cancer. 12:1995;16-23.
31. Ragnarsson G., Eiriksdottir G., Johannsdottir J.T., et al. Loss of heterozygosity at chromosome 1p in different solid human tumours: association with survival. Br. J. Cancer. 79:1999;1468-1474.
32. Bieche I., Champeme M.H., Lidereau R. Loss and gain of distinct regions of chromosome 1q in primary breast cancer. Clin. Cancer Res. 1:1995;123-127.
33. Matsumoto S., Kasumi F., Sakamoto G., Onda M., Nakamura Y., Emi M. Detailed deletion mapping of chromosome arm 3p in breast cancers: a 2-cM region on 3p14.3-21.1 and a 5-cM region on 3p24.3-25.1 commonly deleted in tumors. Genes Chromosomes Cancer. 20:1997;268-274.
34. Chen L.C., Matsumara K., Deng G., et al. Deletion of two separate regions on chromosome 3p in breast cancers. Cancer Res. 54:1994;3021-3024.
35. Bergthorsson J.T., Eiriksdottir G., Barkardottir R.B., Egilsson V., Arason A., Ingvarsson S. Linkage analysis and allelic imbalance in human breast cancer kindreds using microsatellite markers from the short arm of chromosome 3. Hum. Genet. 96:1995;437-443.
36. Kok K., Naylor S.L., Buys C.H. Deletions of the short arm of chromosome 3 in solid tumors and the search for suppressor genes. Adv. Cancer Res. 71:1997;27-92.
37. Orphanos V., McGown G., Hey Y., Boyle J.M., Santibanez-Koref M. Proximal 6q, a region showing allele loss in primary breast cancer. Br. J. Cancer. 71:1995;290-293.
38. Sheng Z.M., Marchetti A., Buttitta F., et al. Multiple regions of chromosome 6q affected by loss of heterozygosity in primary human breast carcinomas. Br. J. Cancer. 73:1996;144-147.
39. Theile M., Seitz S., Arnold W., et al. A defined chromosome 6q fragment (at D6S310) harbors a putative tumor suppressor gene for breast cancer. Oncogene. 13:1996;677-685.
40. Noviello C., Courjal F., Theillet C. Loss of heterozygosity on the long arm of chromosome 6 in breast cancer: possibly four regions of deletion. Clin. Cancer Res. 2:1996;1601-1606.
41. Fujii H., Zhou W., Gabrielson E. Detection of frequent allelic loss of 6q23-q25.2 in microdissected human breast cancer tissues. Genes Chromosomes Cancer. 16:1996;35-39.
42. Devilee P., Hermans J., Eyfjord J., et al. Loss of heterozygosity at 7q31 in breast cancer: results from an International Collaborative Study Group. The Breast Cancer Somatic Genetics Consortium. Genes Chromosomes Cancer. 18:1997;193-199.
43. Bieche I., Champème M.H., Matifas F., Hacene K., Callahan R., Lidereau R. Loss of heterozygosity on chromosome 7q and aggressive primary breast cancer. Lancet. 339:1992;139-143.
44. Yaremko M.L., Recant W.M., Westbrook C.A. Loss of heterozygosity from the short arm of chromosome 8 is an early event in breast cancers. Genes Chromosomes Cancer. 13:1995;186-191.
45. Yaremko M.L., Kutza C., Lyzak J., Mick R., Recant W.M., Westbrook C.A. Loss of heterozygosity from the short arm of chromosome 8 is associated with invasive behavior in breast cancer. Genes Chromosomes Cancer. 16:1996;189-195.
46. Yokota T., Yoshimoto M., Akiyama F., et al. Localization of a tumor suppressor gene associated with the progression of human breast carcinoma within a 1-cM interval of 8p22-p23.1. Cancer. 85:1999;447-452.
47. Escot C., Theillet C., Lidereau R., et al. Genetic alteration of the c-myc protooncogene (MYC) in human primary breast carcinomas. Proc. Natl. Acad. Sci. USA. 83:1986;4834-4838.
48. Brenner A.J., Aldaz C.M. Chromosome 9p allelic loss and p16/CDKN2 in breast cancer and evidence of p16 inactivation in immortal breast epithelial cells. Cancer Res. 55:1995;2892-2895.
49. An H.X., Nideracher D., Picard F., van Roeyen C., Bender H.G., Beckmann M.W. Frequent allele loss on 9p21-22 defines a smallest common region in the vicinity of the CDKN2 gene in sporadic breast cancer. Genes Chromosomes Cancer. 17:1996;14-20.
50. Eiriksdottir G., Sigurdsson A., Jonasson J.G., et al. Loss of heterozygosity on chromosome 9 in human breast cancer: association with clinical variables and genetic changes at other chromosome regions. Int. J. Cancer. 64:1995;378-382.
51. An H.X., Claas A., Savelyeva L., et al. Two regions of deletion in 9p23-24 in sporadic breast cancer. Cancer Res. 59:1999;3941-3943.
52. Winqvist R., Hampton G.M., Mannermaa A., et al. Loss of heterozygosity for chromosome 11 in primary human breast tumors is associated with poor survival after metastasis. Cancer Res. 55:1995;2660-2664.
53. Karnik P., Paris M., Williams B.R., Casey G., Crowe J., Chen P. Two distinct tumor suppressor loci within chromosome 11p15 implicated in breast cancer progression and metastasis. Hum. Mol. Genet. 7:1998;895-903.
54. Negrini M., Rasio D., Hampton G.M., et al. Definition and refinement of chromosome 11 regions of loss of heterozygosity in breast cancer: identification of a new region at 11q23.3. Cancer Res. 55:1995;3003-3007.
55. Kerangueven F., Eisinger F., Noguchi T., et al. Loss of heterozygosity in human breast carcinomas in the ataxia telangiectasia, Cowden disease and BRCA1 gene regions. Oncogene. 14:1997;339-347.
56. Koreth J., Bakkenist C.J., McGee J.O. Allelic deletions at chromosome 11q22-q23.1 and 11q25-qterm are frequent in sporadic breast but not colorectal cancers. Oncogene. 14:1997;431-437.
57. Hampton G.M., Mannermaa A., Winquist R., et al. Loss of heterozygosity in sporadic human breast carcinoma: a common region between 11q22 and 11q23.3. Cancer Res. 54:1994;4586-4589.
58. Gentile M., Olsen K., Dufmats M., Wingren S. Frequent allelic losses at 11q24.1-q25 in young women with breast cancer: association with poor survival. Br. J. Cancer. 80:1999;843-849.
59. Lidereau R., Callahan R., Dickson C., Peters G., Escot C., Ali I.U. Amplification of the int-2 gene in primary human breast tumors. Oncogene Res. 2:1988;285-291.
60. Schuuring E., Verhoeven E., van Tinteren H., et al. Amplification of genes within the chromosome 11q13 region is indicative of poor prognosis in patients with operable breast cancer. Cancer Res. 52:1992;5229-5234.
61. Hamann U., Herbold C., Costa S., et al. Allelic imbalance on chromosome 13q: evidence for the involvement of BRCA2 and RB1 in sporadic breast cancer. Cancer Res. 56:1996;1988-1990.
62. Eiriksdottir G., Johannesdottir G., Ingvarsson S., et al. Mapping loss of heterozygosity at chromosome 13q: loss at 13q12-q13 is associated with breast tumour progression and poor prognosis. Eur. J. Cancer. 34:1998;2076-2081.
63. Kerangueven F., Allione F., Noguchi T., et al. Patterns of loss of heterozygosity at loci from chromosome arm 13q suggests a possible involvement of BRCA2 in sporadic breast tumors. Genes Chromosomes Cancer. 13:1995;291-294.
64. Iida A., Isobe R., Yoshimoto M., Kasumi F., Nakamura Y., Emi M. Localization of a breast cancer tumour-suppressor gene to a 3-cM interval within chromosomal region 16q22. Br. J. Cancer. 75:1997;264-267.
65. Cleton-Jansen A.M., Moerland E.W., Kuipers-Dijkshoorn N.J., et al. At least two different regions are involved in allelic imbalance on chromosome arm 16q in breast cancer. Genes Chromosomes Cancer. 9:1994;101-107.
66. Dorion-Bonnet F., Mautalen S., Hostein I., Longy M. Allelic imbalance study of 16q in human primary breast carcinomas using microsatellite markers. Genes Chromosomes Cancer. 14:1995;171-181.
67. Skirnisdottir S., Eiriksdottir G., Baldursson T., Barkardottir R.B., Egilsson V., Ingvarsson S. High frequency of allelic imbalance at chromosome region 16q22-23 in human breast cancer: correlation with high PgR and low S phase. Int. J. Cancer. 64:1995;112-116.
68. Driouch K., Dorion-Bonnet F., Briffod M., Champeme M.H., Longy M., Lidereau R. Loss of heterozygosity on chromosome arm 16q in breast cancer metastases. Genes Chromosomes Cancer. 19:1997;185-191.
69. Isomura M., Tanigami A., Saito H., et al. Detailed analysis of loss of heterozygosity on chromosome band 17p13 in breast carcinoma on the basis of a high-resolution physical map with 29 markers. Genes Chromosomes Cancer. 9:1994;173-179.
70. Stack M., Jones D., White G., et al. Detailed mapping and loss of heterozygosity analysis suggests a suppressor locus involved in sporadic breast cancer within a distal region of chromosome band 17p13.3. Hum. Mol. Genet. 4:1995;2047-2055.
71. Coles C., Thompson A.M., Elder P.A., et al. Evidence implicating at least two genes on chromosome 17p in breast carcinogenesis. Lancet. 336:1990;761-763.
72. Phelan C.M., Borg A., Cuny M., et al. Consortium study on 1280 breast carcinomas: allelic loss on chromosome 17 targets subregions associated with family history and clinical parameters. Cancer Res. 58:1998;1004-1012.
73. Orsetti B., Courjal F., Cuny M., Rodriguez C., Theillet C. 17q21-q25 aberrations in breast cancer: combined allelotyping and CGH analysis reveals 5 regions of allelic imbalance among which two correspond to DNA amplification. Oncogene. 18:1999;6262-6270.
74. Yokota T., Matsumoto S., Yoshimoto M., et al. Mapping of a breast cancer tumor suppressor gene locus to a 4-cM interval on chromosome 18q21. Jpn. J. Cancer Res. 88:1997;959-964.
75. Huiping C., Eirksdottir G., Sigurdsson A., et al. High frequency of LOH at chromosome 18q in human breast cancer: association with high S-phase fraction and low progesterone receptor content. Anticancer Res. 18:1998;1031-1036.
76. Iida A., Kurose K., Isobe R., et al. Mapping of a new target region of allelic loss to a 2-cM interval at 22q13.1 in primary breast cancer. Genes Chromosomes Cancer. 21:1998;108-112.
77. Allione F., Eisinger F., Parc P., Noguchi T., Sobol H., Birnbaum D. Loss of heterozygosity at loci from chromosome arm 22Q in human sporadic breast carcinomas. Int. J. Cancer. 75:1998;181-186.
78. Kaghad M., Bonnet H., Yang A., et al. Monoallelically expressed gene related to p53 at 1p36, a region frequently deleted in neuroblastoma and other human cancers. Cell. 90:1997;809-819.
79. Han S., Semba S., Abe T., et al. Infrequent somatic mutations of the p73 gene in various human cancers. Eur. J. Surg. Oncol. 25:1999;194-198.
80. Ray R.B., Steele R., Seftor E., Hendrix M. Human breast carcinoma cells transfected with the gene encoding a c-myc promoter-binding protein (MBP-1) inhibits tumors in nude mice. Cancer Res. 55:1995;3747-3751.
81. Phelan C.M., Larsson C., Baird S., et al. The human mammary-derived growth inhibitor (MDGI) gene: genomic structure and mutation analysis in human breast tumors. Genomics. 34:1996;63-68.
82. Rasio D., Murakamo Y., Robbins D., et al. Characterization of the human homologue of RAD54: a gene located on chromosome 1p32 at a region of high loss of heterozygosity in breast tumors. Cancer Res. 57:1997;2378-2383.
83. Matsuda M., Miyagawa K., Takahashi M., et al. Mutations in the RAD54 recombination gene in primary cancers. Oncogene. 18:1999;3427-3430.
84. Regimbald L.H., Pilarski L.M., Longenecker B.M., Reddish M.A., Zimmermann G., Hugh J.C. The breast mucin MUCI as a novel adhesion ligand for endothelial intercellular adhesion molecule 1 in breast cancer. Cancer Res. 56:1996;4244-4249.
85. Gnarra J.R., Tory K., Weng Y., et al. Mutations of the VHL tumour suppressor gene in renal carcinoma. Nat. Genet. 7:1994;85-90.
86. Iozzo R.V., Eichstetter I., Danielson K.G. Aberrant expression of the growth factor Wnt-5A in human malignancy. Cancer Res. 55:1995;3495-3499.
87. Negrini M., Monaco C., Vorechovsky I. The FHIT gene at 3p14.2 is abnormal in breast carcinomas. Cancer Res. 56:1996;3173-3179.
88. Ahmadian M., Wistuba I.I., Fong K.M., et al. Analysis of the FHIT gene and FRA3B region in sporadic breast cancer, preneoplastic lesions, and familial breast cancer probands. Cancer Res. 57:1997;3664-3668.
89. Chappell S.A., Walsh T., Walker R.A., Shaw J.A. Loss of heterozygosity at the mannose 6-phosphate insulin-like growth factor 2 receptor gene correlates with poor differentiation in early breast carcinomas. Br. J. Cancer. 76:1997;1558-1561.
90. Hankins G.R., De Souza A.T., Bentley R.C., et al. M6P/IGF2 receptor: a candidate breast tumor suppressor gene. Oncogene. 12:1996;2003-2009.
91. Bilanges B., Varrault A., Bazyuk E., et al. Loss of expression of the candidate tumor suppressor gene ZAC in breast cancer cell lines and primary tumors. Oncogene. 18:1999;3979-3988.
92. Spengler D., Villalba M., Hoffmann A., et al. Regulation of apoptosis and cell cycle arrest by Zac1, a novel zinc finger protein expressed in the pituitary gland and the brain. Embo J. 16:1997;2814-2825.
93. Giordano S., Bardelli A., Zhen Z., Menard S., Ponzetto C., Comoglio P.M. A point mutation in the MET oncogene abrogates metastasis without affecting transformation. Proc. Natl. Acad. Sci. USA. 94:1997;13868-13872.
94. Ishii H., Baffa R., Numata S.I., et al. The FEZ1 gene at chromosome 8p22 encodes a leucine-zipper protein, and its expression is altered in multiple human tumors. Proc. Natl. Acad. Sci. USA. 96:1999;3928-3933.
95. BhatiaGaur R., Donjacour A.A., Sciavolino P.F., et al. Roles for Nkx3.1 in prostate development and cancer. Genes Dev. 13:1999;966-977.
96. Berns E.M., Klijn J.G., van Putten W.L., van Staveren I.L., Portengen H., Foekens J.A. c-myc amplification is a better prognostic factor than HER2/neu amplification in primary breast cancer. Cancer Res. 52:1992;1107-1113.
97. Brenner A.J., Paladugu A., Wang H., Olopade O.I., Dreyling M.H., Aldaz C.M. Preferential loss of expression of p16(INK4a) rather than p19(ARF) in breast cancer. Clin. Cancer Res. 2:1996;1993-1998.
98. Matsuoka S., Thompson J.S., Edwards M.C., et al. Imprinting of the gene encoding a human cyclin-dependent kinase inhibitor, p57KIP2, on chromosome 11p15. Proc. Natl. Acad. Sci. USA. 93:1996;3026-3030.
99. Waha A., Sturne C., Kessler A., et al. Expression of the ATM gene is significantly reduced in sporadic breast carcinomas. Int. J. Cancer. 78:1998;306-309.
100. Kairouz R., Clarke R.A., Marr P.J., et al. ATM protein synthesis patterns in sporadic breast cancer. Mol. Pathol. 52:1999;252-256.
101. Gillett C., Fantl V., Smith R., et al. Amplification and overexpression of cyclin D1 in breast cancer detected by immunohistochemical staining. Cancer Res. 54:1994;1812-1817.
102. Schuuring E., Verhoeven E., Mooi W.J., Michalides R.J.A.M. Identification and cloning of two overexpressed genes, U21B31/PRAD1 and EMS1, within the amplified chromosome 11q13 region in human carcinomas. Oncogene. 7:1992;355-361.
103. Wang N.P., To H., Lee W.H., Lee E.Y. Tumor suppressor activity of RB and p53 genes in human breast carcinoma cells. Oncogene. 8:1993;279-288.
104. Bieche I., Nogues C., Lidereau R. Overexpression of BRCA2 gene in sporadic breast tumours. Oncogene. 18:1999;5232-5238.
105. Oka H., Shiozaki H., Kobayashi K., et al. Expression of E-cadherin cell adhesion molecules in human breast cancer tissues and its relationship to metastasis. Cancer Res. 53:1993;1696-1701.
106. Berx G., Cleton-Jansen A.M., Nollet F., et al. E-cadherin is a tumour/invasion suppressor gene mutated in human lobular breast cancers. Embo J. 14:1995;6107-6115.
107. Siitonen S.M., Kononen J.T., Helin H.J., Rantala I.S., Holli K.A., Isola J.J. Reduced E-cadherin expression is associated with invasiveness and unfavorable prognosis in breast cancer. Am. J. Clin. Pathol. 105:1996;394-402.
108. Dorssers L.C., van Agthoven T., Dekker A., van Agthoven T.L., Kok E.M. Induction of antiestrogen resistance in human breast cancer cells by random insertional mutagenesis using defective retroviruses: identification of bcar-1, a common integration site. Mol. Endocrinol. 7:1993;870-878.
109. Lee S.W. H-cadherin, a novel cadherin with growth inhibitory functions and diminished expression in human breast cancer. Nat. Med. 2:1996;776-782.
110. Wales MM, Biel MA, el Deiry, et al. p53 activates expression of HIC-1, a new candidate tumour suppressor gene on 17p13.3. Nat Med 1995;1:570-7.
111. Casey G., Lo-Hsueh M., Lopez M.E., Vogelstein B., Stanbridge E.J. Growth suppression of human breast cancer cells by the introduction of a wild-type p53 gene. Oncogene. 6:1991;1791-1797.
112. Deng G., Chen L.C., Schott D.R., et al. Loss of heterozygosity and p53 gene mutations in breast cancer. Cancer Res. 54:1994;499-505.
113. Thompson M.E., Jensen R.A., Obermiller P.S., Page D.L., Holt J.T. Decreased expression of BRCA1 accelerates growth and is often present during sporadic breast cancer progression. Nat. Genet. 9:1995;444-450.
114. Esteller M., Silva J.M., Dominguez G., et al. Promoter hypermethylation and BRCA1 inactivation in sporadic breast and ovarian tumors. J. Natl. Cancer Inst. 92:2000;564-569.
115. Yoshikawa K., Honda K., Inamoto T., et al. Reduction of BRCA1 protein expression in Japanese sporadic breast carcinomas and its frequent loss in BRCA1-associated cases. Clin. Cancer Res. 5:1999;1249-1261.
116. Ozcelik H., To M.D., Couture J., Bull S.B., Andrulis I.L. Preferential allelic expression can lead to reduced expression of BRCA1 in sporadic breast cancers. Int. J. Cancer. 77:1998;1-6.
117. Holt J.T., Thompson M.E., Szabo C., et al. Growth retardation and tumour inhibition by BRCA1. Nat. Genet. 12:1996;298-302.
118. Leone A., Flatow U., VanHoutte K., Steeg P.S. Transfection of human nm23-H1 into the human MDA-MB-435 breast carcinoma cell line: effects on tumor metastatic potential, colonization and enzymatic activity. Oncogene. 8:1993;2325-2333.
119. Slamon D.J., Godolphin W., Jones L.A., et al. Studies of the HER-2/neu proto-oncogene in human breast and ovarian cancer. Science. 244:1989;707-712.
120. Pauletti G., Godolphin W., Press M.F., Slamon D.J. Detection and quantitation of HER-2/neu gene amplification in human breast cancer archival material using fluorescence in situ hybridization. Oncogene. 13:1996;63-72.
121. Jacobs J.J.L., Keblused P., Robanus-Mandag E., et al. Senescence bypass srcreen ientifies TBX2, which represses Cdkn2a(p19ARF) and is amplified in a subset of human breast cancers. Nat. Genet. 26:2000;291-299.
122. Thompson A.M., Morris R.G., Wallace M., Wyllie A.H., Steel C.M., Carter D.C. Allele loss from 5q21 (APC/MCC) and 18q21 (DCC) and DCC mRNA expression in breast cancer. Br. J. Cancer. 8:1993;64-68.
123. Zhang M., Volpert O., Shi Y.H., Bouck N. Maspin is an angiogenesis inhibitor. Nat. Med. 6:2000;196-199.
124. Anzick S.L., Kononen J., Walker R.L., et al. AIB1, a steroid receptor coactivator amplified in breast and ovarian cancer. Science. 277:1997;965-968.
125. Zhou H., Kuang J., Zhong L., et al. Tumour amplified kinase STK15/BTAK induces centrosome amplification, aneuploidy and transformation. Nat. Genet. 20:1998;189-193.
126. Collins C., Rommens J.M., Kowbel D., et al. Positional cloning of ZNF217 and NABC1: genes amplified at 20q13 and overexpressed in breast carcinoma. Proc. Nat. Acad. Sci. 95:1998;8703-8708.
127. Lewis S., Locker A., Todd J.H., et al. Expression of epidermal growth factor receptor in breast carcinoma. J. Clin. Pathol. 43:1990;385-389.
128. Hawkins R.A., Killen E., Whittle I.R., Jack W.J., Chetty U., Prescott R.J. Epidermal growth factor receptors in intracranial and breast tumours: their clinical significance. Br. J. Cancer. 63:1991;553-560.
129. Paik S., Hazan R., Fisher E.R., et al. Pathologic findings from the National Surgical Adjuvant Breast and Bowel Project: prognostic significance of erbB-2 protein overexpression in primary breast cancer. J. Clin. Oncol. 8:1990;103-112.
130. Ottaviano Y.L., Issa J.P., Parl F.F., Smith H.S., Baylin S.B., Davidson N.E. Methylation of the estrogen receptor gene CpG island marks loss of estrogen receptor expression in human breast cancer cells. Cancer Res. 54:1994;2552-2555.
131. Lapidus R.G., Ferguson A.T., Ottaviano Y.L., et al. Methylation of estrogen and progesterone receptor gene 5′ CpG islands correlates with lack of estrogen and progesterone receptor gene expression in breast tumors. Clin. Cancer Res. 2:1996;805-810.
132. PenaultLlorca F., Bertucci F., Adelaide J., et al. Expression of FGF and FGF receptor genes in human breast cancer. Int. J. Cancer. 61:1995;170-176.
133. Railo M.J., Smitten K.V., Pekonen F. The prognostic value of insulin growth factor-I in breast cancer patients. Results of a follow-up study on 126 patients. Eur. J. Cancer. 30:1994;307-311.
134. Ellis M.J., Jenkins S., Hanfelt J., et al. Insulin-like growth factors in human breast cancer. Breast Cancer Res. Treat. 52:1998;175-184.
135. Norberg T., Lennerstrand J., Inganas M., Bergh J. Comparison between p53 protein measurements using the luminometric immunoassay and immunohistochemistry with detection of p53 gene mutations using cDNA sequencing in human breast tumors. Int. J. Cancer. 79:1998;376-383.
136. Varley J.M., Armour J., Swallow J.E., et al. The retinoblastoma gene is frequently altered leading to loss of expression in primary breast tumours. Oncogene. 4:1989;725-729.
137. Berns E.M., de Klein A., van Putten W.L., et al. Association between RB-1 gene alterations and factors of favourable prognosis in human breast cancer, without effect on survival. Int. J. Cancer. 64:1995;140-145.
138. Buckley M.F., Sweeney K.J., Hamilton J.A., et al. Expression and amplification of cyclin genes in human breast cancer. Oncogene. 8:1993;2127-2133.
139. Bartkova J., Lukas J., Muller H., Lutzhoft D., Strauss M., Bartek J. Cyclin D1 protein expression and function in human breast cancer. Int. J. Cancer. 57:1994;353-361.
140. Bartkova J., Lukas J., Strauss M., Bartek J. Cyclin D1 oncoprotein aberrantly accumulates in malignancies of diverse histogenesis. Oncogene. 10:1995;775-778.
141. Ruthven D.M. Principles of Adsorption and Adsorption Processes. 1984;55-58 Wiley, New York.
142. Courjal F., Louason G., Speiser P., Katsaros D., Zellinger R., Theillet C. Cyclin gene amplification and overexpression in breast and ovarian cancers: evidence for the selection of cyclin D1 in breast and cyclin E in ovarian tumors. Int. J. Cancer. 69:1996;247-253.
143. Jiang M., Shao Z.M., Wu J., et al. p21/waf1/cip1 and mdm-2 expression in breast carcinoma patients as related to prognosis. Int. J. Cancer. 74:1997;529-534.
144. BuesoRamos C.E., Manshouri T., Haidar M.A., et al. Abnormal expression of MDM-2 in breast carcinomas. Breast Cancer Res. Treat. 37:1996;179-188.
145. Herman J.G., Merlo A., Mao L., et al. Inactivation of the CDKN2/p16/MTS1 gene is frequently associated with aberrant DNA methylation in all common human cancers. Cancer Res. 55:1995;4525-4530.
146. Geradts J., Wilson P.A. High frequency of aberrant p16(INK4A) expression in human breast cancer. Am. J. Pathol. 149:1996;15-20.
147. Woodcock D.M., Linsenmeyer M.E., Doherty J.P., Warren W.D. DNA methylation in the promoter region of the p16 (CDKN2/MTS-1/INK4A) gene in human breast tumours. Br. J. Cancer. 79:1999;251-256.
148. Catzavelos C., Bhattacharya N., Ung Y.C., et al. Decreased levels of the cell-cycle inhibitor p27Kip1 protein: prognostic implications in primary breast cancer. Nat. Med. 3:1997;227-230.
149. Wu J., Shen Z.Z., Lu J.S., et al. Prognostic role of p27Kip1 and apoptosis in human breast cancer. Br. J. Cancer. 79:1999;1572-1578.
150. Nielsen N.H., Loden M., Cajander J., Emdin S.O., Landberg G. G1-S transition defects occur in most breast cancers and predict outcome. Breast Cancer Res. Treat. 56:1999;105-112.
151. Ozcelik H., Mousses S., Andrulis I.L. Low levels of expression of an inhibitor of cyclin-dependent kinases (CIP1/WAF1) in primary breast carcinomas with p53 mutations. Clin. Cancer Res. 1:1995;907-912.
152. Diab S.G., Yu Y.Y., Hilsenbeck S.G., Allred D.C., Elledge R.M. WAF1/CIP1 protein expression in human breast tumors. Breast Cancer Res. Treat. 43:1997;99-103.
153. Johnston S.R., MacLennan K.A., Sacks N.P., Salter J., Smith I.E., Dowsett M. Modulation of Bcl-2 and Ki-67 expression in oestrogen receptor-positive human breast cancer by tamoxifen. Eur. J. Cancer. 11:1994;1663-1669.
154. Joensuu H., Pylkkanen L., Toikkanen S. Bcl-2 protein expression and long-term survival in breast cancer. Am. J. Pathol. 145:1994;1191-1198.
155. Zhang G.J., Kimijima I., Abe R., et al. Correlation between the expression of apoptosis-related bcl-2 and p53 oncoproteins and the carcinogenesis and progression of breast carcinomas. Clin. Cancer Res. 3:1997;2329-2335.
156. Krajewski S, Thor AD, Edgerton SM, Moore DH 2nd, Krajewska M, Reed JC. Analysis of Bax and Bcl-2 expression in p53-immunopositive breast cancers. Clin Cancer Res 1997;3199-208.
157. Watson P.H., Safneck J.R., Le K., Dubik D., Shiu R.P. Relationship of c-myc amplification to progression of breast cancer from in situ to invasive tumor and lymph node metastasis. J. Natl. Cancer Inst. 85:1993;902-907.
158. Bieche I., et al. Quantitation of hTERT gene expression in sporadic breast tumors with a real-time reverse transcription-polymerase chain reaction assay. Clin. Cancer Res. 6:2000;452-459.
159. Aaltonen M., Lipponen P., Kosma V.M., Aaltomaa S., Syrjanen K. Prognostic value of cathepsin-D expression in female breast cancer. Anticancer Res. 15:1995;1033-1037.
160. Gion M., Mione R., Dittadi R., et al. Relationship between cathepsin D and other pathological and biological parameters in 1752 patients with primary breast cancer. Eur. J. Cancer. 5:1995;671-677.
161. Rimm D.L., Sinard J.H., Morrow J.S. Reduced alpha-catenin and E-cadherin expression in breast cancer. Lab. Invest. 72:1995;506-512.
162. Heimann R., Lan F., McBride R., Hellman S. Separating favorable from unfavorable prognostic markers in breast cancer: the role of E-cadherin. Cancer Res. 60:2000;298-304.
163. Foekens J.A., Peters H.A., Look M.P., et al. The urokinase system of plasminogen activation and prognosis in 2780 breast cancer patients. Cancer Res. 60:2000;636-643.
164. Harbeck N., Thomssen C., Berger U., et al. Invasion marker PAI-1 remains a strong prognostic factor after long-term follow-up both for primary breast cancer and following first relapse. Breast Cancer Res. Treat. 54:1999;147-157.
165. Ueno H., Nakamura H., Inoue M., et al. Expression and tissue localization of membrane-types 1, 2, and 3 matrix metalloproteinases in human invasive breast carcinomas. Cancer Res. 57:1997;2055-2060.
166. Kossakowska A.E., Huchcroft S.A., Urbanski S.J., Edwards D.R. Comparative analysis of the expression patterns of metalloproteinases and their inhibitors in breast neoplasia, sporadic colorectal neoplasia, pulmonary carcinomas and malignant non-Hodgkin's lymphomas in humans. Br. J. Cancer. 73:1996;1401-1408.
167. Okada A., Bellocq J.P., Rouyer N., et al. Membrane-type matrix metalloproteinase (MT-MMP) gene is expressed in stromal cells of human colon, breast, and head and neck carcinomas. Proc. Natl. Acad. Sci. USA. 92:1995;2730-2734.
168. Yoshiji H., Gomez D.E., Shibuya M., Thorgeirsson U.P. Expression of vascular endothelial growth factor, its receptor, and other angiogenic factors in human breast cancer. Cancer Res. 56:1996;2013-2016.
169. Relf M., LeJeune S., Scott P.A., et al. Expression of the angiogenic factors vascular endothelial cell growth factor, acidic and basic fibroblast growth factor, tumor growth factor beta-1, platelet-derived endothelial cell growth factor, placenta growth factor, and pleiotrophin in human primary breast cancer and its relation to angiogenesis. Cancer Res. 57:1997;963-969.
170. Clark G.M., McGuire W.L. Follow-up study of HER-2/neu amplification in primary breast cancer. Cancer Res. 51:1991;944-948.
171. van de Vijver M.J., Peterse J.L., Mooi W.J., et al. Neu-protein overexpression in breast cancer. Association with comedo-type ductal carcinoma in situ and limited prognostic value in stage II breast cancer. N.
172. Allred D.C., et al. Overexpression of HER-2/neu and its relationship with other prognostic factors change during the progression of in situ to invasive breast cancer. Hum. Pathol. 23:1992;974-979.
173. Karunagaran D., Tzahar E., Beerli R.R., et al. ErbB-2 is a common auxiliary subunit of NDF and EGF receptors: implications for breast cancer. Embo J. 15:1996;254-264.
174. Tan M., Yao J., Yu D. Overexpression of the c-erbB-2 gene enhanced intrinsic metastasis potential in human breast cancer cells without increasing their transformation abilities. Cancer Res. 57:1997;1199-1205.
175. Guy C.T., Webster M.A., Schaller M., Parsons T.J., Cardiff R.D., Muller W.J. Expression of the neu protooncogene in the mammary epithelium of transgenic mice induces metastatic disease. Proc. Natl. Acad. Sci. USA. 89:1992;10578-10582.
176. Andrechek E.R., Hardy W.R., Siegel P.M., Rudnicki M.A., Cardiff R.D., Muller W.J. Amplification of the neu/erbB-2 oncogene in a mouse model of mammary tumorigenesis. Proc. Natl. Acad. Sci. USA. 97:2000;3444-3449.
177. Xing X., Wang S.C., Xia W., et al. The ets protein PEA3 suppresses HER-2/neu overexpression and inhibits tumorigenesis. Nat. Med. 6:2000;189-195.
178. Doherty J.K., Bond C., Jardim A., Adelman J.P., Clinton G.M. The HER-2/neu receptor tyrosine kinase gene encodes a secreted autoinhibitor. Proc. Natl. Acad. Sci. USA. 96:1999;10869-10874.
179. Motokura T., Bloom T., Kim H.G., et al. A novel cyclin encoded by a bcl1-linked candidate oncogene. Nature. 350:1991;512-515.
180. Tsuda H., Hirohashi S., Shimosato Y., et al. Correlation between long-term survival in breast cancer patients and amplification of two putative oncogene-coamplification units: hst-1/int-2 and c-erbB-2/ear-1. Cancer Res. 49:1989;3104-3108.
181. Shackleford G.M., MacArthur C.A., Kwan H.C., Varmus H.E. Mouse mammary tumor virus infection accelerates mammary carcinogenesis in Wnt-1 transgenic mice by insertional activation of int-2/Fgf-3 and hst/Fgf-4. Proc. Natl. Acad. Sci. USA. 90:1993;740-744.
182. Hunter T., Pines J. Cyclins and cancer. Cell. 66:1991;1071-1074.
183. Zhang S.Y., Caamano J., Cooper F., Guo X., Klein-Szanto A.J. Immunohistochemistry of cyclin D1 in human breast cancer. Am. J. Clin. Pathol. 102:1994;695-698.
184. Wang T.C., Cardiff R.D., Zukerberg L., Lees E., Arnold A., Schmidt E.V. Mammary hyperplasia and carcinoma in MMTV-cyclin D1 transgenic mice. Nature. 369:1994;669-671.
185. Nass S.J., Dickson R.B. Defining a role for c-Myc in breast tumorigenesis. Breast Cancer Res. Treat. 44:1997;1-22.
186. Visscher D.W., Wallis T., Awussah S., Mohamed A., Crissman J.D. Evaluation of MYC and chromosome 8 copy number in breast carcinoma by interphase cytogenetics. Genes Chromosomes Cancer. 18:1997;1-7.
187. Bonilla M., Ramirez M., Lopez-Cueto J., Gariglio P. In vivo amplification and rearrangement of c-myc oncogene in human breast tumors. J. Natl. Cancer Inst. 80:1988;665-671.
188. Garcia I., Dietrich P.Y., Aapro M., Vauthier G., Vadas L., Engel E. Genetic alterations of c-myc, c-erbB-2, and c-Ha-ras protooncogenes and clinical associations in human breast carcinomas. Cancer Res. 49:1989;6675-6679.
189. Guerin M., Barrois M., Terrier M.J., Spielmann M., Riou G. Overexpression of either c-myc or c-erbB-2/neu proto-oncogenes in human breast carcinomas: correlation with poor prognosis. Oncogene Res. 3:1988;21-31.
190. Stewart T.A., Pattengale P.K., Leder P. Spontaneous mammary adenocarcinomas in transgenic mice that carry and express MTV/myc fusion genes. Cell. 38:1984;627-637.
191. Adnane J., et al. BEK and FLG, two receptors to members of the FGF family, are amplified in subsets of human breast cancers. Oncogene. 6:1991;659-663.
192. Reed J.C. Bcl-2 family proteins. Oncogene. 17:1998;3225-3236.
193. Zapata J.M., Krajewska M., Krajewski S., et al. Expression of multiple apoptosis-regulatory genes in human breast cancer cell lines and primary tumors. Breast Cancer Res. Treat. 47:1998;129-140.
194. van Slooten H.J., van de Vijver M.J., van de Velde C.J., van Dierendonck J.H. Loss of Bcl-2 in invasive breast cancer is associated with high rates of cell death, but also with increased proliferative activity. Br. J. Cancer. 77:1998;789-796.
195. Schorr K., Li M., Krajewski S., Reed J.C., Furth P.A. Bcl-2 gene family and related proteins in mammary gland involution and breast cancer. J. Mammary Gland Biol. Neoplasia. 4:1999;153-164.
196. Gray-Bablin J., Zalvide J., Fox M.P., Knickerbocker C.J., DeCaprio J.A., Keyomarsi K. Cyclin E, a redundant cyclin in breast cancer. Proc. Natl. Acad. Sci. USA. 93:1996;15215-15220.
197. Geng Y., Whoriskey W., Park M.Y., et al. Rescue of cyclin D1 deficiency by knockin cyclin E. Cell. 97:1999;767-777.
198. Bortner D.M., Rosenberg M.P. Induction of mammary gland hyperplasia and carcinomas in transgenic mice expressing human cyclin E. Mol. Cell. Biol. 17:1997;453-459.
199. Porter P.L., Malone K.E., Heagerty P.J., et al. Expression of cell-cycle regulators p27Kip1 and cyclin E, alone and in combination, correlate with survival in young breast cancer patients. Nat. Med. 3:1997;222-225.
200. Sedivy J.M. Can ends justify the means?: telomeres and the mechanisms of replicative senescence and immortalization in mammalian cells. Proc. Natl. Acad. Sci. USA. 95:1998;9078-9081.
201. Greider C.W. Telomerase activity, cell proliferation, and cancer. Proc. Natl. Acad. Sci. USA. 95:1998;90-92.
202. Clark G.M., Osborne C.K., Levitt D., Wu F., Kim N.W. Telomerase activity and survival of patients with node-positive breast cancer. J. Natl. Cancer Inst. 89:1997;1874-1881.
203. Nakamura T.M., Morin G.B., Chapman K.B., et al. Telomerase catalytic subunit homologs from fission yeast and human. Science. 277:1997;955-959.
204. Hahn W.C., Counter C.M., Lundberg A.S., Beijersbergen R.L., Brooks M.W., Weinberg R.A. Creation of human tumour cells with defined genetic elements. Nature. 400:1999;464-468.
205. Bland KI, Konstadoulakis MM, Vezeridis MP, Wanebo HJ. Oncogene protein co-expression. Value of Ha-ras, c-myc, c-fos, and p53 as prognostic discriminants for breast carcinoma. Ann Surg 1995;221:706-18; discussion 718-20.
206. Fero M.L., Randel E., Gurley K.E., Roberts J.M., Kemp C.J. The murine gene p27Kip1 is haplo-insufficient for tumour suppression. Nature. 396:1998;177-180.
207. Kemp C.J., Donehower L.A., Bradley A., Balmain A. Reduction of p53 gene dosage does not increase initiation or promotion but enhances malignant progression of chemically induced skin tumors. Cell. 74:1993;813-822.
208. Dobrovic A., Simpfendorfer D. Methylation of the BRCA1 gene in sporadic breast cancer. Cancer Res. 57:1997;3347-3350.
209. Graff J.R., Herman J.G., Lapidus R.G., et al. E-cadherin expression is silenced by DNA hypermethylation in human breast and prostate carcinomas. Cancer Res. 55:1995;5195-5199.
210. Greenblatt M.S., Bennett W.P., Hollstein M., Harris C.C. Mutations in the p53 tumor suppressor gene: clues to cancer etiology and molecular pathogenesis. Cancer Res. 54:1994;4855-4878.
211. Miyashita T., Reed J.C. Tumor suppressor p53 is a direct transcriptional activator of the human bax gene. Cell. 80:1995;293-299.
212. Hollstein M., Sidransky D., Vogelstein B., Harris C.C. p53 mutations in human cancers. Science. 253:1991;49-53.
213. Srivastava S., Zou Z.Q., Pirollo K., Blattner W., Chang E.H. Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome. Nature. 348:1990;747-749.
214. Malkin D., Li F.P., Strong L.C., et al. Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. Science. 250:1990;1233-1238.
215. Caron de Fromentel C., Soussi T. TP53 tumor suppressor gene: a model for investigating human mutagenesis. Genes Chromosomes Cancer. 4:1992;1-15.
216. Hartmann A., Blaszyk H., Kovach J.S., Sommer S.S. The molecular epidemiology of p53 gene mutations in human breast cancer. Trends Genet. 13:1997;27-33.
217. Marchetti A., Buttitta F., Pellegrini S., et al. p53 mutations and histological type of invasive breast carcinoma. Cancer Res. 53:1993;4665-4669.
218. de Cremoux P., et al. p53 mutation as a genetic trait of typical medullary breast carcinoma. J. Natl. Cancer Inst. 91:1999;641-643.
219. Mazars R., Spinardi L., BenCheikh M., Simony-Lafontaine J., Jeanteur P., Theillet C. p53 mutations occur in aggressive breast cancer. Cancer Res. 52:1992;3918-3923.
220. Thompson A.M., Anderson T.J., Condie A., et al. p53 allele losses, mutations and expression in breast cancer and their relationship to clinico-pathological parameters. Int. J. Cancer. 50:1992;528-532.
221. Lakhani S.R., Collins N., Stratton M.R., Sloane J.P. Atypical ductal hyperplasia of the breast: clonal proliferation with loss of heterozygosity on chromosomes 16q and 17p. J. Clin. Pathol. 48:1995;611-615.
222. Tsuda H., Fukutomi T., Hirohashi S. Pattern of gene alterations in intraductal breast neoplasms associated with histological type and grade. Clin. Cancer Res. 1:1995;261-267.
223. Cavenee W.K., et al. Expression of recessive alleles by chromosomal mechanisms in retinoblastoma. Nature. 305:1983;779-784.
224. T'Ang A., Varley J.M., Chakraborty S., Murphree A.L., Fung Y.K. Structural rearrangement of the retinoblastoma gene in human breast carcinoma. Science. 242:1988;263-266.
225. Borg A., Zhang Q.X., Alm P., Olsson H., Sellberg G. The retinoblastoma gene in breast cancer: allele loss is not correlated with loss of gene protein expression. Cancer Res. 52:1992;2991-2994.
226. Miki Y., Swensen J., Shattuck-Eidens D., et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science. 266:1994;66-71.
227. Wooster R., Bignell G., Lancaster J., et al. Identification of the breast cancer susceptibility gene BRCA2. Nature. 378:1995;789-792.
228. Futreal P.A., Liu Q., Shattuck-Eidens D., et al. BRCA1 mutations in primary breast and ovarian carcinomas. Science. 266:1994;120-122.
229. Merajver S.D., Pham T.M., Caduff R.F., et al. Somatic mutations in the BRCA1 gene in sporadic ovarian tumours. Nat. Genet. 9:1995;439-443.
230. Teng D.H., Bogden R., Mitchell J., et al. Low incidence of BRCA2 mutations in breast carcinoma and other cancers. Nat. Genet. 13:1996;241-244.
231. Lancaster J.M., Wooster R., Mangion J., et al. BRCA2 mutations in primary breast and ovarian cancers. Nat. Genet. 13:1996;238-240.
232. Miki Y., Katagiri T., Kasumi F., Yoshimoto T., Nakamura Y. Mutation analysis in the BRCA2 gene in primary breast cancers. Nat. Genet. 13:1996;245-247.
233. Puget N., Stoppa-Lyonnet D., Sinilnikova O.M., et al. Screening for germ-line rearrangements and regulatory mutations in BRCA1 led to the identification of four new deletions. Cancer Res. 59:1999;455-461.
234. Smith S.A., Easton D.F., Evans D.G., Ponder B.A. Allele losses in the region 17q12-21 in familial breast and ovarian cancer involve the wild-type chromosome. Nat. Genet. 2:1992;128-131.
235. Collins N., McManus R., Wooster R., 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. 10:1995;1673-1675.
236. Collins N., Wooster R., Stratton M.R. 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. 76:1997;1150-1156.
237. Cleton-Jansen A.M., Collins N., Lakhani S.R., et al. Loss of heterozygosity in sporadic breast tumours at the BRCA2 locus on chromosome 13q12-q13. Br. J. Cancer. 72:1995;1241-1244.
238. Savitsky K., Bar-Shira A., Gilad S., et al. A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science. 268:1995;1749-1753.
239. Swift M., Morrell D., Massey R.B., Chase C.L. Incidence of cancer in 161 families affected by ataxia-telangiectasia. N. Engl. J. Med. 325:1991;1831-1836.
240. FitzGerald M.G., Bean J.M., Hegde S.R., et al. Heterozygous ATM mutations do not contribute to early onset of breast cancer. Nat. Genet. 15:1997;307-310.
241. Elson A., Wang Y., Daugherty C.J., et al. Pleiotropic defects in ataxia-telangiectasia protein-deficient mice. Proc. Natl. Acad. Sci. USA. 93:1996;13084-13089.
242. Westphal C.H., Schmaltz C., Rowan S., Elson A., Fisher D.E., Leder P. Genetic interactions between atm and p53 influence cellular proliferation and irradiation-induced cell cycle checkpoints. Cancer Res. 57:1997;1664-1667.
243. Kovalev S., Mateen A., Zaika A.I., O'Hea B.J., Moll U.M. Lack of defective expression of the ATM gene in sporadic breast cancer tissues and cell lines. Int. J. Oncol. 16:2000;825-831.
244. Berx G., Staes K., van Hengel J., et al. Cloning and characterization of the human invasion suppressor gene E-cadherin (CDH1). Genomics. 26:1995;281-289.
245. Vleminckx K., Vakaet L. Jr, Mareel M., Fiers W., van Roy F. Genetic manipulation of E-cadherin expression by epithelial tumor cells reveals an invasion suppressor role. Cell. 66:1991;107-119.
246. Behrens J., Mareel M.M., Van Roy F.M., Birchmeier W. Dissecting tumor cell invasion: epithelial cells acquire invasive properties after the loss of uvomorulin-mediated cell-cell adhesion. J. Cell. Biol. 108:1989;2435-2447.
247. Guilford P., Hopkins J., Harraway J., et al. E-cadherin germline mutations in familial gastric cancer. Nature. 392:1998;402-405.
248. Berx G., Cleton-Jansen A.M., Strumane K., et al. E-cadherin is inactivated in a majority of invasive human lobular breast cancers by truncation mutations throughout its extracellular domain. Oncogene. 13:1996;1919-1925.
249. Vos C.B., Cleton-Jansen A.M., Berx G., et al. E-cadherin inactivation in lobular carcinoma in situ of the breast: an early event in tumorigenesis. Br. J. Cancer. 76:1997;1131-1133.
250. Shiozaki H., Tahara H., Oka H., et al. Expression of immunoreactive E-cadherin adhesion molecules in human cancers. Am. J. Pathol. 139:1991;17-23.
251. Gamallo C., Palacios J., Suarez A., et al. Correlation of E-cadherin expression with differentiation grade and histological type in breast carcinoma. Am. J. Pathol. 142:1993;987-993.
252. Spirin K.S., Simpson J.F., Takeuchi S., Kawamata N., Miller C.W., Koeffler H.P. p27/Kip1 mutation found in breast cancer. Cancer Res. 56:1996;2400-2404.
253. Ferrando A.A., Balbin M., Pendas A.M., Vizoso F., Velasco G., Lopez-Otin C. Mutational analysis of the human cyclin-dependent kinase inhibitor p27kip1 in primary breast carcinomas. Hum. Genet. 97:1996;91-94.
254. Lynch E.D., Ostermeyer E.A., Lee M.K., et al. Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis. Am. J. Hum. Genet. 61:1997;1254-1260.
255. Rhei E., Kang L., Bogomolniy F., Federici M.G., Borgen P.I., Boyd J. Mutation analysis of the putative tumor suppressor gene PTEN/MMAC1 in primary breast carcinomas. Cancer Res. 57:1997;3657-3659.
256. Ueda K., Nishijima M., Inui H., et al. Infrequent mutations in the PTEN/MMAC1 gene among primary breast cancers. Jpn. J. Cancer Res. 89:1998;17-21.
257. Murphy L.C., Dotzlaw H., Leygue E., Douglas D., Coutts A., Watson P.H. Estrogen receptor variants and mutations. J. Steroid. Biochem. Mol. Biol. 62:1997;363-372.
258. Dowsett M., Daffada A., Chan C.M., Johnston S.R. Oestrogen receptor mutants and variants in breast cancer. Eur. J. Cancer. 33:1997;1177-1183.
259. Zhang Q.X., Borg A., Wolf D.M., Oesterreich S., Fuqua S.A. An estrogen receptor mutant with strong hormone-independent activity from a metastatic breast cancer. Cancer Res. 57:1997;1244-1249.
260. England G.M., Bilimoria M.M., Chen Z., Assikis V.J., Muenzner H.D., Jordan V.C. Characterization of a point mutation in the hormone binding domain of the estrogen receptor from an breast tumor. Int. J. Oncol. 12:1998;981-986.
261. Pfeffer U., Fecarotta E., Vidali G. Coexpression of multiple estrogen receptor variant messenger RNAs in normal and neoplastic breast tissues and in MCF-7 cells. Cancer Res. 55:1995;2158-2165.
262. Leygue E.R., Watson P.H., Murphy L.C. Estrogen receptor variants in normal human mammary tissue. J. Natl. Cancer Inst. 88:1996;284-290.
263. Karnik P.S., Kulkarni S., Liu X.P., Budd G.T., Bukowski R.M. Estrogen receptor mutations in tamoxifen-resistant breast cancer. Cancer Res. 54:1994;349-353.
264. Almeida A., Muleris M., Dutrillaux B., Malfoy B. The insulin-like growth factor I receptor gene is the target for the 15q26 amplicon in breast cancer. Genes Chromosomes Cancer. 11:1994;63-65.
265. Oates A.J., Schumaker L.M., Jenkins S.B., et al. The mannose 6-phosphate/insulin-like growth factor 2 receptor (M6P/IGF2R), a putative breast tumor suppressor gene. Breast Cancer Res. Treat. 47:1998;269-281.
266. Sandgren E.P., Luetteke N.C., Palmiter R.D., Brinster R.L., Lee D.C. Overexpression of TGF alpha in transgenic mice: induction of epithelial hyperplasia, pancreatic metaplasia, and carcinoma of the breast. Cell. 61:1990;1121-1135.
267. Humphreys R.C., Hennighausen L. Transforming growth factor alpha and mouse models of human breast cancer. Oncogene. 19:2000;1085-1091.
268. Reiss M., Barcellos-Hoff M.H. Transforming growth factor-beta in breast cancer: a working hypothesis. Breast Cancer Res. Treat. 45:1997;81-95.
269. Scully R., Chen J., Plug A., et al. Association of BRCA1 with Rad51 in mitotic and meiotic cells. Cell. 88:1997;265-275.
270. Sharan S.K., Bradley A. Murine Brca2: sequence, map position, and expression pattern. Genomics. 40:1997;234-241.
271. Patel K.J., Yu V.P., Lee H., et al. Involvement of Brca2 in DNA repair. Mol. Cell. 1:1998;347-357.
272. Fukumura D., Xavier R., Sugiura T., et al. Tumor induction of VEGF promoter activity in stromal cells. Cell. 94:1998;715-725.
273. Munn K.E., Walker R.A., Varley J.M. Frequent alterations of chromosome 1 in ductal carcinoma in situ of the breast. Oncogene. 10:1995;1653-1657.
274. Munn K.E., Walker R.A., Menasce L., Varley J.M. Mutation of the TP53 gene and allelic imbalance at chromosome 17p13 in ductal carcinoma in situ. Br. J. Cancer. 74:1996;1578-1585.
275. Radford D.M., Fair K.L., Phillips N.J., et al. Allelotyping of ductal carcinoma in situ of the breast: deletion of loci on 8p, 13q, 16q, 17p and 17q. Cancer Res. 55:1995;3399-3405.
276. Zhuang Z., Merino M.J., Chuaqui R., Liotta L.A., Emmert-Buck M.R. Identical allelic loss on chromosome 11q13 in microdissected in situ and invasive human breast cancer. Cancer Res. 55:1995;467-471.
277. O'Connell P., Pekkel V., Fuqua S., Osborne C.K., Allred D.C. Molecular genetic studies of early breast cancer evolution. Breast Cancer Res. Treat. 32:1994;5-12.
278. Lizard-Nacol S., Lidereau R., Collin F., et al. Benign breast disease: absence of genetic alterations at several loci implicated in breast cancer malignancy. Cancer Res. 55:1995;4416-4419.
279. Simpson J.F., Quan D.E., O'Malley F., Odom-Maryon T., Clarke P.E. Amplification of CCND1 and expression of its protein product, cyclin D1, in ductal carcinoma in situ of the breast. Am. J. Pathol. 151:1997;161-168.
280. Beckmann M.W., Niederacher D., Schnurch H.G., Gusterson B.A., Bender H.G. Multistep carcinogenesis of breast cancer and tumour heterogeneity. J. Mol. Med. 75:1997;429-439.
281. Weinstat-Saslow D., Merino M.J., Manrow R.E., et al. Overexpression of cyclin D mRNA distinguishes invasive and in situ breast carcinomas from non-malignant lesions. Nat. Med. 1:1995;1257-1260.
282. Vos C.B., ter Haar N.T., Rosenberg C., et al. Genetic alterations on chromosome 16 and 17 are important features of ductal carcinoma in situ of the breast and are associated with histologic type. Br. J. Cancer. 81:1999;1410-1418.
283. Driouch K., Champeme M.H., Beuzelin M., Bieche I., Lidereau R. Classical gene amplifications in human breast cancer are not associated with distant solid metastases. Br. J. Cancer. 76:1997;784-787.
284. O'Connell P., Pekkel V., Fuqua S.A., Osborne C.K., Clark G.M., Allred D.C. Analysis of loss of heterozygosity in 399 premalignant breast lesions at 15 genetic loci. J. Natl. Cancer Inst. 90:1998;697-703.
285. Lakhani S.R., Slack D.N., Hamoudi R.A., Collins N., Stratton M.R., Sloane J.P. Detection of allelic imbalance indicates that a proportion of mammary hyperplasia of usual type are clonal, neoplastic proliferations. Lab. Invest. 74:1996;129-135.
286. Wick W., Petersen I., Schmutzler R.K., et al. Evidence for a novel tumor suppressor gene on chromosome 15 associated with progression to a metastatic stage in breast cancer. Oncogene. 12:1996;973-978.
287. Driouch K., Briffod M., Bieche I., Champeme M.H., Lidereau R. Location of several putative genes possibly involved in human breast cancer progression. Cancer Res. 58:1998;2081-2086.