MicroRNA expression signatures for the prediction of BRCA1/2 mutation-associated hereditary breast cancer in paraffinembedded formalin-fixed breast tumors

International Journal of Cancer

Volumn 136, Issue 3, 2015, Pages 593-602

  Tanic, Miljana ^a   Yanowski, Kira ^a   Gómez López, Gonzalo ^a   Socorro Rodriguez Pinilla, María ^b   Marquez Rodas, Iván ^c   Osorio, Ana ^a,d   Pisano, David G ^a   Martinez Delgado, Beatriz ^a,d   Benítez, Javier ^a,d  

^a Structural Biology and Biocomputing Programme   (Spain)

^b Hospital UniversitarioFundación Jiménez Díaz   (Spain)

^c HOSPITAL GENERAL UNIVERSITARIO GREGORIO MARAÑÓN   (Spain)

^d CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

Author keywords

BRCA1; BRCA2; Diagnostic biomarker; Hereditary breast cancer; MiRNA

Indexed keywords

ALKALINE PHOSPHATASE; BRCA1 PROTEIN; BRCA2 PROTEIN; EPIDERMAL GROWTH FACTOR RECEPTOR 2; ESTROGEN RECEPTOR; MICRORNA; PROGESTERONE RECEPTOR; FORMALDEHYDE; PARAFFIN;

ADULT; AGED; AREA UNDER THE CURVE; ARTICLE; BREAST; BREAST CANCER; BREAST TUMOR; CANCER PATIENT; CLASSIFIER; CONTROLLED STUDY; FAMILIAL CANCER; FAMILY HISTORY; FEMALE; GENE EXPRESSION PROFILING; GENE MUTATION; GENETIC SCREENING; GERMLINE MUTATION; HUMAN; HUMAN TISSUE; INVASIVE CARCINOMA; MAJOR CLINICAL STUDY; MICROARRAY ANALYSIS; NUCLEOTIDE SEQUENCE; PREDICTION; PROTEIN EXPRESSION; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; RECEIVER OPERATING CHARACTERISTIC; RNA EXTRACTION; GENETICS; MUTATION; STATISTICAL MODEL; TUMOR SUPPRESSOR GENE;

BREAST NEOPLASMS; FEMALE; FORMALDEHYDE; GENES, BRCA1; GENES, BRCA2; HUMANS; LOGISTIC MODELS; MICRORNAS; MUTATION; PARAFFIN EMBEDDING;

EID: 84911002355     PISSN: 00207136     EISSN: 10970215     Source Type: Journal    
DOI: 10.1002/ijc.29021     Document Type: Article

References (48)

1. Miki Y, Swensen J, Shattuck-Eidens D, et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 1994;266:66-71.
2. Wooster R, Neuhausen SL,Mangion J, et al. Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13. Science 1994;265:2088-90.
3. Thompson D, Easton D. The genetic epidemiology of breast cancer genes. J Mammary Gland Biol Neoplasia 2004;9:221-36.
4. Melchor L, Benitez J. The complex genetic landscape of familial breast cancer. Hum Genet 2013; 132:845-63.
5. Fletcher O, Houlston RS. Architecture of inherited susceptibility to common cancer. Nat Rev Cancer 2010;10:353-61.
6. Narod SA. BRCA mutations in the management of breast cancer: the state of the art. Nat Rev Clin Oncol 2010;7:702-7.
7. Antoniou AC, Hardy R, Walker L, et al. Predicting the likelihood of carrying a BRCA1 or BRCA2 mutation: validation of BOADICEA, BRCAPRO, IBIS, Myriad and the Manchester scoring system using data from UK genetics clinics. J Med Genet 2008;45: 425-31.
8. Fischer C, Kuchenbacker K, Engel C, et al. Evaluating the performance of the breast cancer genetic risk models BOADICEA, IBIS, BRCAPRO and Claus for predicting BRCA1/2 mutation carrier probabilities: a study based on 7352 families from the German Hereditary Breast and Ovarian Cancer Consortium. J Med Genet 2013;50:360-7.
9. Robson M, Offit K. Clinical practice. Management of an inherited predisposition to breast cancer. N Engl J Med 2007;357:154-62.
10. Weitzel JN, Lagos VI, Cullinane CA, et al. Limited family structure and BRCA gene mutation status in single cases of breast cancer. JAMA 2007;297:2587-95.
11. Papelard H, de Bock GH, van Eijk R, et al. Prevalence of BRCA1 in a hospital-based population of Dutch breast cancer patients. Br J Cancer 2000; 83:719-24.
12. King MC, Marks JH, Mandell JB; New York Breast Cancer Study Group. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science 2003;302:643-6.
13. Malone KE, Daling JR, Doody DR, et al. Prevalence and predictors of BRCA1 and BRCA2 mutations in a population-based study of breast cancer in white and black American women ages 35 to 64 years. Cancer Res 2006;66:8297-308.
14. Ashworth A. A synthetic lethal therapeutic approach: poly(ADP) ribose polymerase inhibitors for the treatment of cancers deficient in DNA double-strand break repair. J Clin Oncol 2008;26:3785-90.
15. Gregory PA, Bert AG, Paterson EL, et al. The miR-200 family and miR-205 regulate epithelial to mesenchymal transition by targeting ZEB1 and SIP1. Nat Cell Biol 2008;10:593-601.
16. Lu J, Getz G, Miska EA, et al. MicroRNA expression profiles classify human cancers. Nature 2005; 435:834-8.
17. He L, Thomson JM, Hemann MT, et al. A micro-RNA polycistron as a potential human oncogene. Nature 2005;435:828-33.
18. Yates LA, Norbury CJ, Gilbert RJ. The long and short of microRNA. Cell 2013;153:516-19.
19. Iorio MV, Ferracin M, Liu CG, et al. MicroRNA gene expression deregulation in human breast cancer. Cancer Res 2005;65:7065-70.
20. Volinia S, Calin GA, Liu CG, et al. A microRNA expression signature of human solid tumors defines cancer gene targets. Proc Natl Acad Sci USA 2006;103:2257-61.
21. Blenkiron C, Goldstein LD, Thorne NP, et al. MicroRNA expression profiling of human breast cancer identifies new markers of tumor subtype. Genome Biol 2007;8:R214.
22. Le Quesne J, Caldas C. Micro-RNAs and breast cancer. Mol Oncol 2010;4:230-41.
23. Liu H. MicroRNAs in breast cancer initiation and progression. Cell Mol Life Sci 2012;69:3587-99.
24. Li J, Smyth P, Flavin R, et al. Comparison of miRNA expression patterns using total RNA extracted from matched samples of formalin-fixed paraffin-embedded (FFPE) cells and snap frozen cells. BMC Biotechnol 2007;7:36.
25. Xi Y, Nakajima G, Gavin E, et al. Systematic analysis of microRNA expression of RNA extracted from fresh frozen and formalin-fixed paraffin-embedded samples. RNA 2007;13:1668-74.
26. Hall JS, Taylor J, Valentine HR, et al. Enhanced stability of microRNA expression facilitates classification of FFPE tumour samples exhibiting near total mRNA degradation. Br J Cancer 2012;107: 684-94.
27. Osorio A, Barroso A, Martinez B, et al. Molecular analysis of the BRCA1 and BRCA2 genes in 32 breast and/or ovarian cancer Spanish families. Br J Cancer 2000;82:1266-70.
28. Melchor L, Honrado E, Garcia MJ, et al. Distinct genomic aberration patterns are found in familial breast cancer associated with different immunohistochemical subtypes. Oncogene 2008;27:3165-75.
29. Cancer Genome Atlas Network. Comprehensive molecular portraits of human breast tumours. Nature 2012;490:61-70.
30. Tanic M, Yanowsky K, Rodriguez-Antona C, et al. Deregulated miRNAs in hereditary breast cancer revealed a role for miR-30c in regulating KRAS oncogene. PLoS One 2012;7:e38847.
31. Bignell GR, Warren W, Seal S, et al. Identification of the familial cylindromatosis tumour-suppressor gene. Nat Genet 2000;25:160-5.
32. Benjamini Y, Drai D, Elmer G, et al. Controlling the false discovery rate in behavior genetics research. Behav Brain Res 2001;125:279-84.
33. Dupuy A, Simon RM. Critical review of published microarray studies for cancer outcome and guidelines on statistical analysis and reporting. J Natl Cancer Inst 2007;99:147-57.
34. Medina I, Montaner D, Tarraga J, et al. Prophet, a web-based tool for class prediction using microarray data. Bioinformatics 2007;23:390-1.
35. Dudoit S, Fridlyand J. A prediction-based resampling method for estimating the number of clusters in a dataset. Genome Biol 2002;3: RESEARCH0036.
36. Wessels LF, Reinders MJ, Hart AA, et al. A protocol for building and evaluating predictors of disease state based on microarray data. Bioinformatics 2005;21:3755-62.
37. Tanic M, Andres E, Rodriguez-Pinilla SM, et al. MicroRNA-based molecular classification of non-BRCA1/2 hereditary breast tumours. Br J Cancer 2013;109:2724-34.
38. Hedenfalk I, Duggan D, Chen Y, et al. Geneexpression profiles in hereditary breast cancer. N Engl J Med 2001;344:539-48.
39. Honrado E, Osorio A, Palacios J, et al. Immunohistochemical expression of DNA repair proteins in familial breast cancer differentiate BRCA2-associated tumors. J Clin Oncol 2005;23:7503-11.
40. Rodriguez-Pinilla SM, Sarrio D, Honrado E, et al. Vimentin and laminin expression is associated with basal-like phenotype in both sporadic and BRCA1-associated breast carcinomas. J Clin Pathol 2007;60:1006-12.
41. Didraga MA, van Beers EH, Joosse SA, et al. A non-BRCA1/2 hereditary breast cancer sub-group defined by aCGH profiling of genetically related patients. Breast Cancer Res Treat 2011;130:425-36.
42. Pinol V, Castells A, Andreu M, et al.; Gastrointestinal Oncology Group of the Spanish Gastroenterological Association. Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer. JAMA 2005;293:1986-94.
43. Cancer Genome Atlas Research Network. Comprehensive genomic characterization of squamous cell lung cancers. Nature 2012;489: 519-25.
44. Tan DS, Marchio C, Reis-Filho JS. Hereditary breast cancer: from molecular pathology to tailored therapies. J Clin Pathol 2008;61:1073-82.
45. Marchini S, Cavalieri D, Fruscio R, et al. Association between miR-200c and the survival of patients with stage I epithelial ovarian cancer: a retrospective study of two independent tumour tissue collections. Lancet Oncol 2011;12: 273-85.
46. Lee CH, Subramanian S, Beck AH, et al. Micro-RNA profiling of BRCA1/2 mutation-carrying and non-mutation-carrying high-grade serous carcinomas of ovary. PLoS One 2009;4:e7314.
47. Cancer Genome Atlas Network. Comprehensive molecular characterization of human colon and rectal cancer. Nature 2012;487:330-7.
48. Roy R, Chun J, Powell SN. BRCA1 and BRCA2: different roles in a common pathway of genome protection. Nat Rev Cancer 2012;12:68-78.