Signatures of post-zygotic structural genetic aberrations in the cells of histologically normal breast tissue that can predispose to sporadic breast cancer

Genome Research

Volumn 25, Issue 10, 2015, Pages 1521-1535

  Forsberg, Lars A ^a   Rasi, Chiara ^a   Pekar, Gyula ^a   Davies, Hanna ^a   Piotrowski, Arkadiusz ^c   Absher, Devin ^d   Razzaghian, Hamid Reza ^a,g   Ambicka, Aleksandra ^e   Halaszka, Krzysztof ^e   Przewoźnik, Marcin ^e   Kruczak, Anna ^e   Mandava, Geeta ^a   Pasupulati, Saichand ^a   Hacker, Julia ^a,h   Prakash, K Reddy ^a   Dasari, Ravi Chandra ^a   Lau, Joey ^a   Penagos Tafurt, Nelly ^a   Olofsson, Helena M ^a   Hallberg, Gunilla ^a   Skotnicki, Piotr ^e   Mitus̈, Jerzy ^e   Skokowski, Jaroslaw ^c   Jankowski, Michal ^f   ͆rutek, Ewa ^f   Zegarski, Wojciech ^f   Janson, Eva Tiensuu ^a   Rys̈, Janusz ^e   Tot, Tibor ^a,b   Dumanski, Jan P ^a   more..

^a UPPSALA UNIVERSITY   (Sweden)

^b FALUN HOSPITAL   (Sweden)

^c MEDICAL UNIVERSITY OF GDANSK   (Poland)

^d HUDSONALPHA INSTITUTE FOR BIOTECHNOLOGY   (United States)

^e INSTITUTE OF ONCOLOGY   (Poland)

^f NICOLAUS COPERNICUS UNIVERSITY   (Poland)

^g UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^h FRIEDRICH MIESCHER INSTITUTE FOR BIOMEDICAL RESEARCH   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

EPIDERMAL GROWTH FACTOR RECEPTOR; EPIDERMAL GROWTH FACTOR RECEPTOR 2; FIBROBLAST GROWTH FACTOR RECEPTOR 1; LEUKEMIA INHIBITORY FACTOR RECEPTOR; NERVE GROWTH FACTOR RECEPTOR; SOMATOMEDIN C RECEPTOR; GROWTH FACTOR RECEPTOR;

ADULT; AGED; ARTICLE; BREAST; BREAST CANCER; BREAST CARCINOMA; BREAST CELL; BREAST RECONSTRUCTION; CANCER CELL; CANCER PATIENT; CANCER SURGERY; CANCER SUSCEPTIBILITY; CELL CLONE; CELL MEMBRANE; CONTROLLED STUDY; COPY NUMBER VARIATION; EPITHELIUM CELL; FEMALE; GENE ACTIVATION; GENE AMPLIFICATION; GENE DOSAGE; GENE FREQUENCY; GENE OVEREXPRESSION; GENETIC ANALYSIS; GENETIC VARIABILITY; GENOTYPE; HISTOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; MAJOR CLINICAL STUDY; MASTECTOMY; MESENCHYME CELL; MOSAICISM; PATHOGENESIS; PRIMARY TUMOR; PRIORITY JOURNAL; SPORADIC BREAST CANCER; TUMOR SUPPRESSOR GENE; ANATOMY AND HISTOLOGY; BREAST TUMOR; COHORT ANALYSIS; DNA MUTATIONAL ANALYSIS; GENETIC PREDISPOSITION; GENETICS; MIDDLE AGED; MUTATION; PATHOLOGY; PROTO ONCOGENE; RISK FACTOR; VERY ELDERLY;

ADULT; AGED; AGED, 80 AND OVER; BREAST; BREAST NEOPLASMS; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; FEMALE; GENE DOSAGE; GENES, ERBB-2; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MIDDLE AGED; MUTATION; RECEPTOR, ERBB-2; RECEPTORS, GROWTH FACTOR; RISK FACTORS;

EID: 84942930135     PISSN: 10889051     EISSN: 15495469     Source Type: Journal    
DOI: 10.1101/gr.187823.114     Document Type: Article

References (45)

1. Aaltonen KE, Ebbesson A, Wigerup C, Hedenfalk I. 2011. Laser capture microdissection (LCM) and whole genome amplification (WGA) of DNA from normal breast tissue-optimization for genome wide array analyses. BMC Res Notes 4: 69.
2. Bista RK, Wang P, Bhargava R, Uttam S, Hartman DJ, Brand RE, Liu Y. 2012. Nuclear nano-morphology markers of histologically normal cells detect the "field effect" of breast cancer. Breast Cancer Res Treat 135: 115-124.
3. Boeva V, Popova T, Bleakley K, Chiche P, Cappo J, Schleiermacher G, Janoueix-Lerosey I, Delattre O, Barillot E. 2012. Control-FREEC: a tool for assessing copy number and allelic content using next-generation sequencing data. Bioinformatics 28: 423-425.
4. The Cancer Genome Atlas. 2012. Comprehensive molecular portraits of human breast tumours. Nature 490: 61-70.
5. Conlin LK, Thiel BD, Bonnemann CG, Medne L, Ernst LM, Zackai EH, Deardorff MA, Krantz ID, Hakonarson H, Spinner NB. 2010. Mechanisms of mosaicism, chimerism and uniparental disomy identified by SNP array analysis. Hum Mol Genet 19: 1263-1275.
6. Cooper CS, Eeles R, Wedge DC, Van Loo P, Gundem G, Alexandrov LB, Kremeyer B, Butler A, Lynch AG, Camacho N, et al. 2015. Analysis of the genetic phylogeny of multifocal prostate cancer identifies multiple independent clonal expansions in neoplastic and morphologically normal prostate tissue. Nat Genet 47: 367-372.
7. Deng G, Lu Y, Zlotnikov G, Thor AD, Smith HS. 1996. Loss of heterozygosity in normal tissue adjacent to breast carcinomas. Science 274: 2057-2059.
8. Forsberg LA, Rasi C, Razzaghian H, Pakalapati G, Waite L, Stanton Thilbeault K, Ronowicz A, Wineinger N, Tiwari H, Boomsma D, et al. 2012. Age-related somatic structural changes in the nuclear genome of human blood cells. Am J Hum Genet 90: 217-228.
9. Forsberg LA, Absher D, Dumanski JP. 2013. Non-heritable genetics of human disease: spotlight on post-zygotic genetic variation acquired during lifetime. J Med Genet 50: 1-10.
10. Forsberg LA, Rasi C, Malmqvist N, Davies H, Pasupulati S, Pakalapati G, Sandgren J, de Stahl TD, Zaghlool A, Giedraitis V, et al. 2014. Mosaic loss of chromosome Y in peripheral blood is associated with shorter survival and higher risk of cancer. Nature Genet 46: 624-628.
11. Forsti A, Louhelainen J, Soderberg M, Wijkstrom H,Hemminki K. 2001. Loss of heterozygosity in tumour-adjacent normal tissue of breast and bladder cancer. Eur J Cancer 37: 1372-1380.
12. Foschini MP, Morandi L, Leonardi E, Flamminio F, Ishikawa Y, Masetti R, Eusebi V. 2013. Genetic clonal mapping of in situ and invasive ductal carcinoma indicates the field cancerization phenomenon in the breast. Hum Pathol 44: 1310-1319.
13. Goldhirsch A, Wood WC, Coates AS, Gelber RD, Thurlimann B, Senn HJ. 2011. Strategies for subtypes-dealing with the diversity of breast cancer: highlights of the St. Gallen International Expert Consensus on the Primary Therapy of Early Breast Cancer 2011. Ann Oncol 22: 1736-1747.
14. Goss PE, Sierra S. 1998. Current perspectives on radiation-induced breast cancer. J Clin Oncol 16: 338-347.
15. Heaphy CM, Griffith JK, Bisoffi M. 2009. Mammary field cancerization:molecular evidence and clinical importance. Breast Cancer Res Treat 118: 229-239.
16. Holstege H, PfeifferW, Sie D, Hulsman M, Nicholas TJ, Lee CC, Ross T, Lin J, Miller MA, Ylstra B, et al. 2014. Somatic mutations found in the healthy blood compartment of a 115-yr-old woman demonstrate oligoclonal hematopoiesis. Genome Res 24: 733-742.
17. Huston TL, Simmons RM. 2005. Locally recurrent breast cancer after conservation therapy. Am J Surg 189: 229-235.
18. Inoue K, Mallakin A, Frazier DP. 2007. Dmp1 and tumor suppression. Oncogene 26: 4329-4335.
19. Jacobs KB, Yeager M, ZhouW, Wacholder S, Wang Z, Rodriguez-Santiago B, Hutchinson A, Deng X, Liu C, Horner MJ, et al. 2012. Detectable clonal mosaicism and its relationship to aging and cancer. Nat Genet 44: 651-658.
20. Jain S, Rezo A, Shadbolt B, Dahlstrom JE. 2009. Synchronous multiple ipsilateral breast cancers: implications for patient management. Pathology 41: 57-67.
21. Krzywinski M, Schein J, Birol I, Connors J, Gascoyne R, Horsman D, Jones SJ, Marra MA. 2009. Circos: an information aesthetic for comparative genomics. Genome Res 19: 1639-1645.
22. Lakhani RS, Ellis IO, Schnitt SJ, Hoon PH, van de Vijver MJ. 2012.WHOclassification of tumours of the breast, 4th ed. International Agency for Research on Cancer, WHO Press, Geneva.
23. Laurie CC, Laurie CA, Rice K, Doheny KF, Zelnick LR, McHugh CP, Ling H, Hetrick KN, Pugh EW, Amos C, et al. 2012. Detectable clonal mosaicism from birth to old age and its relationship to cancer. Nat Genet 44: 642-650.
24. Mortimer JE, Bading JR, Colcher DM, Conti PS, Frankel PH, Carroll MI, Tong S, Poku E, Miles JK, Shively JE, et al. 2014. Functional imaging of human epidermal growth factor receptor 2-positive metastatic breast cancer using (64)Cu-DOTA-trastuzumab PET. J Nucl Med 55: 23-29.
25. Nitta H, Kelly BD, Padilla M, Wick N, Brunhoeber P, Bai I, Singh S, Ranger- Moore J, Bieniarz C, Tsuda H, et al. 2012. A gene-protein assay for human epidermal growth factor receptor 2 (HER2): brightfield tricolor visualization of HER2 protein, the HER2 gene, and chromosome 17 centromere (CEN17) in formalin-fixed, paraffin-embedded breast cancer tissue sections. Diagn Pathol 7: 60.
26. Olsson H, Baldetorp B, Ferno M, Perfekt R. 2003. Relation between the rate of tumour cell proliferation and latency time in radiation associated breast cancer. BMC Cancer 3: 11.
27. Pekar G, Davies H, Lukacs AP, Forsberg L, Hellberg D, Dumanski J, Tot T. 2015. Biobanking multifocal breast carcinomas: sample adequacy with regard to histology and DNA content. Histopathology doi: 10.1111/his.12758.
28. Poplawski AB, Jankowski M, Erickson SW, Diaz de Stahl T, Partridge EC, Crasto C, Guo J, Gibson J, Menzel U, Bruder CE, et al. 2010. Frequent genetic differences between matched primary and metastatic breast cancer provide an approach to identification of biomarkers for disease progression. Eur J Hum Genet 18: 560-568.
29. Razzaghian HR, Shahi MH, Forsberg LA, de Stahl TD, Absher D, Dahl N, Westerman MP, Dumanski JP. 2010. Somatic mosaicism for chromosome X and Y aneuploidies in monozygotic twins heterozygous for sickle cell disease mutation. Am J Med Genet A 152A: 2595-2598.
30. Rennstam K, Ringberg A, Cunliffe HE, Olsson H, Landberg G, Hedenfalk I. 2010. Genomic alterations in histopathologically normal breast tissue from BRCA1 mutation carriers may be caused by BRCA1 haploinsufficiency. Genes Chromosomes Cancer 49: 78-90.
31. Rivenbark AG, Coleman WB. 2012. Field cancerization in mammary carcinogenesis - Implications for prevention and treatment of breast cancer. Exp Mol Pathol 93: 391-398.
32. Rodriguez-Santiago B, Malats N, Rothman N, Armengol L, Garcia-Closas M, Kogevinas M, Villa O, Hutchinson A, Earl J, Marenne G, et al. 2010. Mosaic uniparental disomies and aneuploidies as large structural variants of the human genome. Am J Hum Genet 87: 129-138.
33. Ronowicz A, Janaszak-Jasiecka A, Skokowski J, Madanecki P, Bartoszewski R, Balut M, Seroczynska B, Kochan K, Bogdan A, Butkus M, et al. 2015. Concurrent DNA copy-number alterations and mutations in genes related to maintenance of genome stability in uninvolved mammary glandular tissue from breast cancer patients. Hum Mutat doi: 10.1002/humu.22845.
34. Sadanandam A, Lal A, Benz SC, Eppenberger-Castori S, Scott G, Gray JW, Spellman P, Waldman F, Benz CC. 2012. Genomic aberrations in normal tissue adjacent to HER2-amplified breast cancers: field cancerization or contaminating tumor cells? Breast Cancer Res Treat 136: 693-703.
35. Santarius T, Shipley J, Brewer D, Stratton MR, Cooper CS. 2010. A census of amplified and overexpressed human cancer genes. Nat Rev 10: 59-64.
36. Score J, Chase A, Forsberg LA, Feng L, Waghorn K, Jones AV, Rasi C, Linch DC, Dumanski JP, Gale RE, et al. 2015. Detection of leukemia-associated mutations in peripheral blood DNA of hematologically normal elderly individuals. Leukemia doi: 10.1038/leu.2015.13.
37. Sorensen J, Sandberg D, Sandstrom M, Wennborg A, Feldwisch J, Tolmachev V, Astrom G, Lubberink M, Garske-Roman U, Carlsson J, et al. 2014. First-in-human molecular imaging of HER2 expression in breast cancer metastases using the 111In-ABY-025 affibody molecule. J Nucl Med 55: 730-735.
38. Sorlie T, Perou CM, Tibshirani R, Aas T, Geisler S, Johnsen H, Hastie T, Eisen MB, van de Rijn M, Jeffrey SS, et al. 2001. Gene expression patterns of breast carcinomas distinguish tumor subclasses with clinical implications. Proc Natl Acad Sci 98: 10869-10874.
39. Stephens PJ, Tarpey PS, Davies H, Van Loo P, Greenman C, Wedge DC, Nik- Zainal S, Martin S, Varela I, Bignell GR, et al. 2012. The landscape of cancer genes and mutational processes in breast cancer. Nature 486: 400-404.
40. Thomas DB, Rosenblatt K, Jimenez LM, McTiernan A, Stalsberg H, Stemhagen A, Thompson WD, Curnen MG, Satariano W, Austin DF, et al. 1994. Ionizing radiation and breast cancer in men (United States). Cancer Causes Control 5: 9-14.
41. Tot T. 2005. DCIS, cytokeratins, and the theory of the sick lobe. Virchows Arch 447: 1-8.
42. Tot T. 2014. The sick lobe concept. In Breast cancer: a new era in management (ed. Francescatti DS, Silverstein MJ), pp. 79-94. Springer Science and Business Media, New York.
43. Tot T, Gere M, Pekar G, Tarjan M, Hofmeyer S, Hellberg D, Lindquist D, Chen TH, Yen AM, Chiu SY, et al. 2011. Breast cancer multifocality, disease extent, and survival. Hum Pathol 42: 1761-1769.
44. Visscher PM, Brown MA, McCarthy MI, Yang J. 2012. Five years of GWAS discovery. Am J Hum Genet 90: 7-24.
45. Zhang J, Finney RP, Rowe W, Edmonson M, Yang SH, Dracheva T, Jen J, Struewing JP, Buetow KH. 2007. Systematic analysis of genetic alterations in tumors using Cancer Genome WorkBench (CGWB). Genome Res 17: 1111-1117.