Total-genome analysis of BRCA1/2-related invasive carcinomas of the breast identifies tumor stroma as potential landscaper for neoplastic initiation

American Journal of Human Genetics

Volumn 78, Issue 6, 2006, Pages 961-972

  Weber, Frank ^a   Shen, Lei ^b   Fukino, Koichi ^c   Patocs, Attila ^a   Mutter, George L ^d   Caldes, Trinidad ^e   Eng, Charis ^a,f,g  

^a CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b OHIO STATE UNIVERSITY   (United States)

^c NIPPON MEDICAL SCHOOL   (Japan)

^d BRIGHAM AND WOMEN S HOSPITAL   (United States)

^e HOSPITAL CLÍNICO SAN CARLOS   (Spain)

^f UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^g LERNER RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ALLELIC IMBALANCE; ARTICLE; BREAST CARCINOMA; BREAST EPITHELIUM; DNA REPLICATION; FEMALE; GENE LOCUS; GENOME; GENOME ANALYSIS; GENOMIC INSTABILITY; HEREDITARY BREAST OVARIAN CANCER SYNDROME; HETEROZYGOSITY LOSS; HUMAN; MAJOR CLINICAL STUDY; MALIGNANT TRANSFORMATION; MAMMARY GLAND; MICROSATELLITE MARKER; OVARY CANCER; PHENOTYPE; PRIORITY JOURNAL; SYNDROME; TUMOR SUPPRESSOR GENE;

EID: 33646885230     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/504090     Document Type: Article

References (35)

1. American Cancer Society (2005) Breast cancer facts and figures: 2005-2006. American Cancer Society, Atlanta
2. Narod SA, Foulkes WD (2004) BRCA1 and BRCA2: 1994 and beyond. Nat Rev Cancer 4:665-676
3. Antoniou AC, Pharoah PD, McMullan G, Day NE, Stratton MR, Peto J, Ponder BJ, Easton DF (2002) A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes. Br J Cancer 86:76-83
4. Hedenfalk I, Duggan D, Chen Y, Radmacher M, Bittner M, Simon R, Meltzer P, Gusterson B, Esteller M, Kallioniemi OP, Wilfond B, Borg A, Trent J (2001) Gene-expression profiles in hereditary breast cancer. N Engl J Med 344:539-548
5. Jonsson G, Naylor TL, Vallon-Christersson J, Staaf J, Huang J, Ward MR, Greshock JD, Luts L, Olsson H, Rahman N, Stratton M, Ringner M, Borg A, Weber BL (2005) Distinct genomic profiles in hereditary breast tumors identified by array-based comparative genomic hybridization. Cancer Res 65:7612-7621
6. Cavalli LR, Singh B, Isaacs C, Dickson RB, Haddad BR (2004) Loss of heterozygosity in normal breast epithelial tissue and benign breast lesions in BRCA1/2 carriers with breast cancer. Cancer Genet Cytogenet 149:38-43
7. Larson PS, Schlechter BL, de las Morenas A, Garber JE, Cupples LA, Rosenberg CL (2005) Allele imbalance, or loss of heterozygosity, in normal breast epithelium of sporadic breast cancer cases and BRCA1 gene mutation carriers is increased compared with reduction mammoplasty tissues. J Clin Oncol 23:8613-8619
8. Russo J, Lynch H, Russo IH (2001) Mammary gland architecture as a determining factor in the susceptibility of the human breast to cancer. Breast J 7:278-291
9. National Comprehensive Cancer Network (NCCN) (2004) Genetic/familial high-risk assessment: breast and ovarian cancer. Clinical practice guidelines in oncology. NCCN, Jenkintown, PA
10. Fukino K, Shen L, Matsumoto S, Morrison CD, Mutter GL, Eng C (2004) Combined total genome loss of heterozygosity scan of breast cancer stroma and epithelium reveals multiplicity of stromal targets. Cancer Res 64:7231-7236
11. Kurose K, Hoshaw-Woodard S, Adeyinka A, Lemeshow S, Watson PH, Eng C (2001) Genetic model of multi-step breast carcinogenesis involving the epithelium and stroma: clues to tumour-microenvironment interactions. Hum Mol Genet 10:1907-1913
12. Kurose K, Gilley K, Matsumoto S, Watson PH, Zhou XP, Eng C (2002) Frequent somatic mutations in PTEN and TP53 are mutually exclusive in the stroma of breast carcinomas. Nat Genet 32:355-357
13. Marsh DJ, Zheng Z, Zedenius J, Kremer H, Padberg GW, Larsson C, Longy M, Eng C (1997) Differential loss of heterozygosity in the region of the Cowden locus within 10q22-23 in follicular thyroid adenomas and carcinomas. Cancer Res 57:500-503
14. Nelson HH, Wilkojmen M, Marsit CJ, Kelsey KT (2005) TP53 mutation, allelism and survival in non-small cell lung cancer. Carcinogenesis 26:1770-1773
15. Dacic S, Ionescu DN, Finkelstein S, Yousem SA (2005) Patterns of allelic loss of synchronous adenocarcinomas of the lung. Am J Surg Pathol 29:897-902
16. Honrado E, Benitez J, Palacios J (2005) The molecular pathology of hereditary breast cancer: genetic testing and therapeutic implications. Mod Pathol 18:1305-1320
17. Allinen M, Beroukhim R, Cai L, Brennan C, Lahti-Domenici J, Huang H, Porter D, Hu M, Chin L, Richardson A, Schnitt S, Sellers WR, Polyak K (2004) Molecular characterization of the tumor microenvironment in breast cancer. Cancer Cell 6:17-32
18. Moinfar F, Man YG, Arnould L, Bratthauer GL, Ratschek M, Tavassoli FA (2000) Concurrent and independent genetic alterations in the stromal and epithelial cells of mammary carcinoma: implications for tumorigenesis. Cancer Res 60:2562-2566
19. Maffini MV, Calabro JM, Soto AM, Sonnenschein C (2005) Stromal regulation of neoplastic development: age-dependent normalization of neoplastic mammary cells by mammary stroma. Am J Pathol 167:1405-1410
20. Shekhar MP, Werdell J, Santner SJ, Pauley RJ, Tait L (2001) Breast stroma plays a dominant regulatory role in breast epithelial growth and differentiation: implications for tumor development and progression. Cancer Res 61:1320-1326
21. Colditz GA, Rosner BA, Speizer FE, for the Nurses' Health Study Research Group (1996) Risk factors for breast cancer according to family history of breast cancer. J Natl Cancer Inst 88:365-371
22. Barcellos-Hoff MH, Medina D (2005) New highlights on stroma-epithelial interactions in breast cancer. Breast Cancer Res 7:33-36
23. Eng C, Kiuru M, Fernandez MJ, Aaltonen LA (2003) A role for mitochondrial enzymes in inherited neoplasia and beyond. Nat Rev Cancer 3:193-202
24. Jernstrom H, Sandberg T, Bageman E, Borg A, Olsson H (2005) Insulin-like growth factor-1 (IGF1) genotype predicts breast volume after pregnancy and hormonal contraception and is associated with circulating IGF-1 levels: implications for risk of early-onset breast cancer in young women from hereditary breast cancer families. Br J Cancer 92:857-866
25. Wilson DM 3rd, Thompson LH (1997) Life without DNA repair. Proc Natl Acad Sci USA 94:12754-12757
26. Glover TW, Arlt MF, Casper AM, Durkin SG (2005) Mechanisms of common fragile site instability. Hum Mol Genet Spec 2 14: R197-R205
27. Goldsby RE, Lawrence NA, Hays LE, Olmsted EA, Chen X, Singh M, Preston BD (2001) Defective DNA polymerase-δ proofreading causes cancer susceptibility in mice. Nat Med 7:638-639
28. Sigurdson AJ, Hauptmann M, Chatterjee N, Alexander BH, Doody MM, Rutter JL, Struewing JP (2004) Kin-cohort estimates for familial breast cancer risk in relation to variants in DNA base excision repair, BRCA1 interacting and growth factor genes. BMC Cancer 4:9
29. Miller BJ, Wang D, Krahe R, Wright FA (2003) Pooled analysis of loss of heterozygosity in breast cancer: a genome scan provides comparative evidence for multiple tumor suppressors and identifies novel candidate regions. Am J Hum Genet 73:748-767
30. Wessels LF, van Welsem T, Hart AA, van't Veer LJ, Reinders MJ, Nederlof PM (2002) Molecular classification of breast carcinomas by comparative genomic hybridization: a specific somatic genetic profile for BRCA1 tumors. Cancer Res 62:7110-7117
31. Sorlie T, Tibshirani R, Parker J, Hastie T, Marron JS, Nobel A, Deng S, Johnsen H, Pesich R, Geisler S, Demeter J, Perou CM, Lonning PE, Brown PO, Borresen-Dale AL, Botstein D (2003) Repeated observation of breast tumor subtypes in independent gene expression data sets. Proc Natl Acad Sci USA 100:8418-8423
32. Weber F, Fukino K, Sawada T, Williams N, Sweet K, Brena RM, Plass C, Caldes T, Mutter GL, Villalona-Calero MA, Eng C (2005) Variability in organ-specific EGFR mutational spectra in tumour epithelium and stroma may be the biological basis for differential responses to tyrosine kinase inhibitors. Br J Cancer 92:1922-1926
33. Parris GE (2005) Clinically significant cancer evolves from transient mutated and/or aneuploid neoplasia by cell fusion to form unstable syncytia that give rise to ecologically viable parasite species. Med Hypotheses 65:846-850
34. Parris GE (2006) The cell clone ecology hypothesis and the cell fusion model of cancer progression and metastasis: history and experimental support. Med Hypotheses 66:76-83
35. Roy SK, Trividi AH, Bakshi SR, Patel SJ, Shukla PS, Shah AD, Majithiya DB, Patel DD, Shah PM (2001) A study of chromosome aneuploidy in hereditary breast cancer patients and their healthy blood relatives. J Exp Clin Cancer Res 20:103-109