Abstract
Biological characteristics have been used for millennia to characterise and diagnose ailments and we now term these biomarkers. With the advent of the “omics” era the knowledge of the molecular events involved in carcinogenesis has increased greatly and this has been followed by the expectation that clinical practice could be revolutionised by novel molecular approaches. The National Institute of Health (NIH) has initiated a Biomarker workforce to clearly define biomarkers and the Early Detection Research Network Group offer guidelines for the development and validation of cancer biomarkers. The idea is that these more stringent guidelines will reduce the number of badly designed, underpowered biomarker studies so that quality data can be collected which will help bring biomarkers into clinical use. Although developed for invasive cancer these definitions and guidelines also apply to markers for intraepithelial neoplasia (IEN). The identification of these pre-malignant lesions may be central to reduction of cancer mortality since they are indolent and allow time for chemoprevention and/or treatment measures before cancer develops to an incurable stage. Biomarkers are needed to allow for detection of IENs and to predict which lesions are at highest risk of progression. The development and validation of cancer biomarkers is riddled with practical difficulties such as sample collection and identification of confounding factors and these are in many cases highly problematic in the case of IEN. Although a number of biomarkers are under evaluation for IEN, there are currently no biomarkers in clinical practice that were developed specifically for this purpose. Screening markers such as prostate serum albumin and faecal occult blood test do however also detect early cancers including a small proportion of IEN. There is a real clinical need for biomarkers in the field of preinvasive disease however it is likely that progress will only be made if strong collaborative links are forged between academia, industry and clinical practice.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Jones H (1848) On a new substance occuring in the urine of a patient with mollities ossium. Phil Trans R Soc Lond 138:55–62
Gutman A, Sproul E (1936) Significance of increased phosphatase activity of bone at the site of osteoblastic metastases secondary to carcinoma of the prostate gland. Am J Cancer 28:485–495
Yalow RS, Berson SA (1960) Immunoassay of endogenous plasma insulin in man. J Clin Invest 39:1157–1175
Bergstrand C, Czar B (1956) Demonstration of a new protein fraction in serum from the human fetus. Scand J Clin Lab Invest 8(2):174
Abelev G et al (1963) Production of embryonal alpha-globulin by transplantable mouse hepatomas. Transplantation 1:174–180
Tatarinov LS (1964) Detection of embryo-specific alpha-globulin in the blood serum of a patient with primary liver cancer. Vopr Med Khim 10:90–91
Gold P, Freedman SO (1965) Demonstration of tumor-specific antigens in human colonic carcinomata by immunological tolerance and absorption techniques. J Exp Med 121: 439–462
Thomson DM et al (1969) The radioimmunoassay of circulating carcinoembryonic antigen of the human digestive system. Proc Natl Acad Sci U S A 64(1):161–167
Kohler G, Milstein C (1975) Continuous cultures of fused cells secreting antibody of predefined specificity. Nature 256(5517):495–497
Bast RC Jr et al (1983) A radioimmunoassay using a monoclonal antibody to monitor the course of epithelial ovarian cancer. N Engl J Med 309(15):883–887
Ludwig JA, Weinstein JN (2005) Biomarkers in cancer staging, prognosis and treatment selection. Nat Rev Cancer 5(11):845–856
Hanahan D, Weinberg RA (2000) The hallmarks of cancer. Cell 100(1):57–70
Leon SA et al (1977) Free DNA in the serum of cancer patients and the effect of therapy. Cancer Res 37(3):646–650
Sidransky D et al (1991) Identification of p53 gene mutations in bladder cancers and urine samples. Science 252(5006):706–709
Sidransky D et al (1992) Identification of ras oncogene mutations in the stool of patients with curable colorectal tumors. Science 256(5053):102–105
Anderson NL, Anderson NG (2002) The human plasma proteome: history, character, and diagnostic prospects. Mol Cell Proteomics 1(11):845–867
O’Shaughnessy JA et al (2002) Treatment and prevention of intraepithelial neoplasia: an important target for accelerated new agent development. Clin Cancer Res 8(2):314–346
Fearon ER, Vogelstein B (1990) A genetic model for colorectal tumorigenesis. Cell 61(5):759–767
Kelloff GJ et al (2006) Progress in chemoprevention drug development: the promise of molecular biomarkers for prevention of intraepithelial neoplasia and cancer – a plan to move forward. Clin Cancer Res 12(12):3661–3697
Phillips KA et al (2006) Diagnostics and biomarker development: priming the pipeline. Nat Rev Drug Discov 5(6):463–469
Gutman S, Kessler LG (2006) The US Food and Drug Administration perspective on cancer biomarker development. Nat Rev Cancer 6(7):565–571
Biomarkers Definitions Working Group (2001) Biomarkers and surrogate endpoints: preferred definitions and conceptual framework. Clin Pharmacol Ther 69(3):89–95
Ryder SD (2003) Guidelines for the diagnosis and treatment of hepatocellular carcinoma (HCC) in adults. Gut 52(suppl 3):iii1–iii8
Punglia RS et al (2003) Effect of verification bias on screening for prostate cancer by measurement of prostate-specific antigen. N Engl J Med 349(4):335–342
Elmore JG, Fletcher SW (2006) The risk of cancer risk prediction: “What is my risk of getting breast cancer”? J Natl Cancer Inst 98(23):1673–1675
Smith KL et al (2007) BRCA Mutations in Women with Ductal Carcinoma In situ. Clin Cancer Res 13(14):4306–4310
Chen S, Parmigiani G (2007) Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol 25(11):1329–1333
Markowitz SD, Bertagnolli MM (2009) Molecular origins of cancer: Molecular basis of colorectal cancer. N Engl J Med 361(25):2449–2460
Sidelnikov E et al (2009) MutL-Homolog 1 Expression and Risk of Incident, Sporadic Colorectal Adenoma: Search for Prospective Biomarkers of Risk for Colorectal Cancer. Cancer Epidemiol Biomark Prev 18(5):1599–1609
van de Vijver MJ et al (2002) A gene-expression signature as a predictor of survival in breast cancer. N Engl J Med 347(25):1999–2009
van ‘t Veer LJ et al (2002) Gene expression profiling predicts clinical outcome of breast cancer. Nature 415(6871):530–536
Glinsky GV et al (2004) Gene expression profiling predicts clinical outcome of prostate cancer. J Clin Investig 113(6):913–923
Early Breast Cancer Trialists’ Collaborative Group (1998) Tamoxifen for early breast cancer: an overview of the randomised trials. Lancet 351(9114):1451–1467
Slamon DJ et al (2001) Use of chemotherapy plus a monoclonal antibody against HER2 for metastatic breast cancer that overexpresses HER2. N Engl J Med 344(11):783–792
Shaheen NJ et al (2002) Upper endoscopy as a screening and surveillance tool in esophageal adenocarcinoma: a review of the evidence. Am J Gastroenterol 97(6):1319–1327
Veenstra TD et al (2005) Biomarkers: mining the biofluid proteome. Mol Cell Proteomics 4(4):409–418
Hung KE, Yu KH (2010) Proteomic approaches to cancer biomarkers. Gastroenterology 138(1):46–51, e41
Hanash SM et al (2008) Mining the plasma proteome for cancer biomarkers. Nature 452(7187):571–579
Anderson L, Seilhamer J (1997) A comparison of selected mRNA and protein abundances in human liver. Electrophoresis 18(3–4):533–537
Hu S et al (2006) Human body fluid proteome analysis. Proteomics 6(23):6326–6353
Colotta F et al (2009) Cancer-related inflammation, the seventh hallmark of cancer: links to genetic instability. Carcinogenesis 30(7):1073–1081
Sturgeon CM et al (2009) Serum tumour markers: how to order and interpret them. BMJ 339:b3527
Muyldermans M et al (1995) CA125 and endometriosis. Hum Reprod Update 1(2):173–187
Duman C et al (2003) Elevated serum CA 125 levels in mitral stenotic patients with heart failure. Cardiology 100(1):7–10
Bertino G et al (2007) Meaning of elevated CA 19-9 serum levels in chronic hepatitis and HCV-related cirrhosis. Minerva Gastroenterol Dietol 53(4):305–309
Price CP et al (2001) Pre- and post-analytical factors that may influence use of serum prostate specific antigen and its isoforms in a screening programme for prostate cancer. Ann Clin Biochem 38(Pt 3):188–216
Tumor Analysis Best Practices Working Group (2004) Expression profiling – best practices for data generation and interpretation in clinical trials. Nat Rev Genet 5(3):229–237
Srinivasan M et al (2002) Effect of fixatives and tissue processing on the content and integrity of nucleic acids. Am J Pathol 161(6):1961–1971
Medeiros F et al (2007) Tissue handling for genome-wide expression analysis: a review of the issues, evidence, and opportunities. Arch Pathol Lab Med 131(12):1805–1816
Gao YC et al (2007) Effect of freeze-thaw cycles on serum measurements of AFP, CEA, CA125 and CA19-9. Scand J Clin Lab Invest 67(7):741–747
Sullivan Pepe M et al (2001) Phases of biomarker development for early detection of cancer. J Natl Cancer Inst 93(14):1054–1061
Chao DL et al (2008) Cell Proliferation, Cell Cycle Abnormalities, and Cancer Outcome in Patients with Barrett’s Esophagus: A Long-term Prospective Study. Clin Cancer Res 14(21):6988–6995
Bani-Hani K et al (2000) Prospective study of cyclin D1 overexpression in Barrett’s esophagus: association with increased risk of adenocarcinoma. J Natl Cancer Inst 92(16):1316–1321
Murray L et al (2006) TP53 and progression from Barrett’s metaplasia to oesophageal adenocarcinoma in a UK population cohort. Gut 55(10):1390–1397
Slamon DJ et al (1987) Human breast cancer: correlation of relapse and survival with amplification of the HER-2/neu oncogene. Science 235(4785):177–182
Hayes DF, Picard MH (2006) Heart of darkness: the downside of trastuzumab. J Clin Oncol 24(25):4056–4058
Wolff AC et al (2007) American Society of Clinical Oncology/College of American Pathologists Guideline Recommendations for Human Epidermal Growth Factor Receptor 2 Testing in Breast Cancer. Arch Pathol Lab Med 131(1):18–43
Wolff AC et al (2007) American Society of Clinical Oncology/College of American Pathologists Guideline Recommendations for Human Epidermal Growth Factor Receptor 2 Testing in Breast Cancer. J Clin Oncol 25(1):118–145
Hicks DG, Kulkarni S (2008) HER2+ breast cancer: review of biologic relevance and optimal use of diagnostic tools. Am J Clin Pathol 129(2):263–273
Dybdal N et al (2005) Determination of HER2 gene amplification by fluorescence in situ hybridization and concordance with the clinical trials immunohistochemical assay in women with metastatic breast cancer evaluated for treatment with trastuzumab. Breast Cancer Res Treat 93(1):3–11
Sauter G et al (2009) Guidelines for Human Epidermal Growth Factor Receptor 2 Testing: Biologic and Methodologic Considerations. J Clin Oncol 27(8):1323–1333
Roche PC et al (2002) Concordance between local and central laboratory HER2 testing in the breast intergroup trial N9831. J Natl Cancer Inst 94(11):855–857
(2010) World Health Organisation, Screening and early detection of cancer: Early detection of cancer greatly increases the chances for successful treatment. http://www.who.int/cancer/detection/en/
Department of Health, Cancer Reform Strategy (2007) http://www.dh.gov.uk/en/Publicationsandstatistics/Publications/PublicationsPolicyAndGuidance/DH_081013
Reid BJ et al (2010) Barrett’s oesophagus and oesophageal adenocarcinoma: time for a new synthesis. Nat Rev Cancer 10(2):87–101
Sikkema M et al (2010) Risk of esophageal adenocarcinoma and mortality in patients with Barrett’s esophagus: A systematic review and meta-analysis. Clin Gastroenterol Hepatol 8:235–244
Shaheen NJ et al (2009) Radiofrequency ablation in Barrett’s esophagus with dysplasia. N Engl J Med 360(22):2277–2288
(2008) Prostate cancer: diagnosis and treatment. http://guidance.nice.org.uk/CG58. Accessed 2 Mar 2010
Imperiale TF et al (2004) Fecal DNA versus fecal occult blood for colorectal-cancer screening in an average-risk population. N Engl J Med 351(26):2704–2714
Agency for Healthcare Research and Quality US Preventive Services Task Force (USPSTF) (2009) http://www.ahrq.gov/clinic/uspstfix.htm. Accessed 2 Dec 2009
Wilson JM, Jungner YG (1968) Principles and practice of mass screening for disease. Bol Oficina Sanit Panam 65(4):281–393
(2003) Structured review for the UK National Screening Committee – appraising the viability, effectiveness and appropriateness of an anal cancer screening programme. http://www.library.nhs.uk/screening/ViewResource.aspx?resID=60464. Accessed 23 Feb 2010
Bosl GJ, Motzer RJ (1997) Testicular germ-cell cancer. N Engl J Med 337(4):242–253
Robson ME et al (2004) A combined analysis of outcome following breast cancer: differences in survival based on BRCA1/BRCA2 mutation status and administration of adjuvant treatment. Breast Cancer Res 6(1):R8–R17
Galipeau PC et al (2007) NSAIDs modulate CDKN2A, TP53, and DNA content risk for progression to esophageal adenocarcinoma. PLoS Med 4(2):e67
Li X et al (2008) Single nucleotide polymorphism-based genome-wide chromosome copy change, loss of heterozygosity, and aneuploidy in Barrett’s esophagus neoplastic progression. Cancer Prev Res (Phila Pa) 1(6):413–423
Paulson TG et al (2009) Chromosomal instability and copy number alterations in Barrett’s esophagus and esophageal adenocarcinoma. Clin Cancer Res 15(10):3305–3314
Lilja H et al (2008) Prostate-specific antigen and prostate cancer: prediction, detection and monitoring. Nat Rev Cancer 8(4):268–278
Lin K et al (2008) Benefits and harms of prostate-specific antigen screening for prostate cancer: an evidence update for the U.S. Preventive Services Task Force. Ann Intern Med 149(3):192–199
Harvey P et al (2009) A systematic review of the diagnostic accuracy of prostate specific antigen. BMC Urol 9(1):14
Schroder FH et al (2009) Screening and prostate-cancer mortality in a randomized European study. N Engl J Med 360(13):1320–1328
Hekal IA (2008) The patients less than 50 years: is there a need to lower the PSA cutoff point? Prostate Cancer Prostatic Dis 12(2):148–151
Brawley OW (2009) Prostate Cancer Screening; Is This a Teachable Moment? J Natl Cancer Inst 101(19):1295–1297
Andriole GL et al (2009) Mortality results from a randomized prostate-cancer screening trial. N Engl J Med 360(13):1310–1319
Levin B et al (2008) Screening and Surveillance for the Early Detection of Colorectal Cancer and Adenomatous Polyps, 2008: A Joint Guideline from the American Cancer Society, the US Multi-Society Task Force on Colorectal Cancer, and the American College of Radiology. CA Cancer J Clin 58(3):130–160
Tumor Analysis Best Practices Working Group (2008) Screening for colorectal cancer: U.S. Preventive Services Task Force recommendation statement. Ann Intern Med 149(9):627–637
Whitlock EP et al (2008) Screening for colorectal cancer: a targeted, updated systematic review for the U.S. Preventive Services Task Force. Ann Intern Med 149(9):638–658
Hewitson P, et al (2007) Screening for colorectal cancer using the faecal occult blood test, Hemoccult. Cochrane Database Syst Rev (1):CD001216
Acknowledgements
The authors are supported by the Medical Research Council, Cambridge Experimental Cancer Medicine Centre and the NIHR Cambridge Biomedical Research Centre.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2011 Springer Science+Business Media, LLC
About this chapter
Cite this chapter
Shariff, K.M., Lao-Sirieix, P. (2011). Biomarkers for Detection of Intra-epithelial Neoplasia. In: Fitzgerald, R. (eds) Pre-Invasive Disease: Pathogenesis and Clinical Management. Springer, New York, NY. https://doi.org/10.1007/978-1-4419-6694-0_9
Download citation
DOI: https://doi.org/10.1007/978-1-4419-6694-0_9
Published:
Publisher Name: Springer, New York, NY
Print ISBN: 978-1-4419-6693-3
Online ISBN: 978-1-4419-6694-0
eBook Packages: Biomedical and Life SciencesBiomedical and Life Sciences (R0)