Top

Forensic Science, Medicine and Pathology

Published in:

01-03-2008 | DNA Review

Cancer and forensic microsatellites

Authors: Karen Page, Eleanor A. M. Graham

Published in: Forensic Science, Medicine and Pathology | Issue 1/2008

Abstract

Although not directly related, circumstances do occur in forensic investigations whereby cancer studies and forensic science cross paths. This review takes a look at the circumstances under which this may occur, and investigates some potential problems that can arise when tumor tissue is submitted for DNA profile analysis. A background to the underlying molecular biology of tumors is described, highlighting the genetic instabilities that are observed in DNA sequences of similar or identical primary structure to the short tandem repeat markers used in forensic DNA profiling kits.

Hynes NE. Amplification and overexpression of the erbB-2 gene in human tumors: its involvement in tumor development, significance as a prognostic factor, and potential as a target for cancer therapy. Semin Cancer Biol 1993;4:19–26.PubMed

Villella JA, Cohen S, Smith DH, Hibshoosh H, Hershman D. HER-2/neu overexpression in uterine papillary serous cancers and its possible therapeutic implications. Int J Gynecol Cancer 2006;16:1897–902.PubMedCrossRef

Uchino S, Tsuda H, Noguchi M, Yokota J, Terada M, Saito T, Kobayashi M, Sugimura T, Hirohashi S. Frequent loss of heterozygosity at the DCC locus in gastric cancer. Cancer Res 1992;52:3099–102.PubMed

Hockenbery DM, Oltvai ZN, Yin XM, Milliman CL, Korsmeyer SJ. Bcl-2 functions in an antioxidant pathway to prevent apoptosis. Cell 1993;75:241–51.PubMedCrossRef

Applied-Biosystems, AmpFlSTR SGM Plus PCR amplification kit user’s manual, Foster City, CA, USA: Applied Biosystems; 2001.

Hovig E, Smith-Sorensen B, Uitterlinden AG, Borresen AL. Detection of DNA variation in cancer. Pharmacogenetics 1992;2:317–28.PubMedCrossRef

Fishel R, Lescoe MK, Rao MR, Copeland NG, Jenkins NA, Garber J, Kane M, Kolodner R. The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell 1993;75:1027–38.PubMedCrossRef

Paulson TG, Wright FA, Parker BA, Russack V, Wahl GM. Microsatellite instability correlates with reduced survival and poor disease prognosis in breast cancer. Cancer Res 1996;56:4021–6.PubMed

van Rhijn BW, Lurkin I, Kirkels WJ, van der Kwast TH, Zwarthoff EC. Microsatellite analysis—DNA test in urine competes with cystoscopy in follow-up of superficial bladder carcinoma: a phase II trial. Cancer 2001;92:768–75.PubMedCrossRef

10.

Gonzalez R, Silva JM, Sanchez A, Dominguez G, Garcia JM, Chen XQ, Stroun M, Provencio M, Espana P, Anker P, Bonilla F. Microsatellite alterations and TP53 mutations in plasma DNA of small-cell lung cancer patients: follow-up study and prognostic significance. Ann Oncol 2000;11:1097–104.PubMedCrossRef

11.

Hoff-Olsen P, Meling GI, Olaisen B. Variation in mutation rate and direction between tetranucleotide STR loci in human colorectal carcinomas. Ann Hum Genet 1998;62:1–7.PubMedCrossRef

12.

Lygo JE, Johnson PE, Holdaway DJ, Woodroffe S, Whitaker JP, Clayton TM, Kimpton CP, Gill P. The validation of short tandem repeat (STR) loci for use in forensic casework. Int J Legal Med 1994;107:77–89.PubMedCrossRef

13.

Sparkes R, Kimpton C, Watson S, Oldroyd N, Clayton T, Barnett L, Arnold J, Thompson C, Hale R, Chapman J, Urquhart A, Gill P. The validation of a 7-locus multiplex STR test for use in forensic casework. (I). Mixtures, ageing, degradation and species studies. Int J Legal Med 1996;109:186–94.PubMedCrossRef

14.

Kimpton CP, Oldroyd NJ, Watson SK, Frazier RR, Johnson PE, Millican ES, Urquhart A, Sparkes BL, Gill P. Validation of highly discriminating multiplex short tandem repeat amplification systems for individual identification. Electrophoresis 1996;17:1283–93.PubMedCrossRef

15.

Peloso G, Gringnani P, Rosso R, Previdere C. Forensic evaluation of tetranucleotide STR instability in lung cancer. Int Con Series 2003;1239:719–721.CrossRef

16.

Schwark T, Bachmann C, Wurmb-Schwark Nv N. STR typing of ductal adenocarcinomas of the pancreas and healthy control tissue in 18 individuals. Leg Med (Tokyo) 2004;6:170–3.

17.

Vauhkonen H, Hedman M, Vauhkonen M, Kataja M, Sipponen P, Sajantila A. Evaluation of gastrointestinal cancer tissues as a source of genetic information for forensic investigations by using STRs. Forensic Sci Int 2004;139:159–67.PubMedCrossRef

18.

Gill P, Sparkes R, Kimpton C. Development of guidelines to designate alleles using an STR multiplex system. Forensic Sci Int 1997;89:185–97.PubMedCrossRef

19.

Yang CH, Hsieh LL, Tsai CW, Chiou FS, Chou SL, Hsu BD, Pai CY. Evaluation of the DNA stability of forensic markers used in betel-quid chewers’ oral swab samples and oral cancerous specimens: implications for forensic application. J Forensic Sci 2003;48:88–92.PubMed

20.

Pai CY, Hsieh LL, Tsai CW, Chiou FS, Yang CH, Hsu BD. Allelic alterations at the STR markers in the buccal tissue cells of oral cancer patients and the oral epithelial cells of healthy betel quid-chewers: an evaluation of forensic applicability. Forensic Sci Int 2002;129:158–67.PubMedCrossRef

21.

Zienolddiny S, Aguelon AM, Mironov N, Mathew B, Thomas G, Sankaranarayanan R, Yamasaki H. Genomic instability in oral squamous cell carcinoma: relationship to betel-quid chewing. Oral Oncol 2004;40:298–303.PubMedCrossRef

22.

Rai R, Kulkarni V, Saranath D. Genome wide instability scanning in chewing-tobacco associated oral cancer using inter simple sequence repeat PCR. Oral Oncol 2004;40:1033–9.PubMedCrossRef

23.

Mahale A, Saranath D. Microsatellite alterations on chromosome 9 in chewing tobacco-induced oral squamous cell carcinomas from India. Oral Oncol 2000;36:199–206.PubMedCrossRef

24.

Yamamoto N, Mizoe J, Numasawa H, Tsujii H, Shibahara T, Noma H. Allelic loss on chromosomes 2q, 3p and 21q: possibly a poor prognostic factor in oral squamous cell carcinoma. Oral Oncol 2003;39:796–805.PubMedCrossRef

25.

Oh JJ, Koegel AK, Phan DT, Razfar A, Slamon DJ. The two single nucleotide polymorphisms in the H37/RBM5 tumour suppressor gene at 3p21.3 correlated with different subtypes of non-small cell lung cancers. Lung Cancer 2007;58:7–14.PubMedCrossRef

26.

Choi CH, Lee KM, Choi JJ, Kim TJ, Kim WY, Lee JW, Lee SJ, Lee JH, Bae DS, Kim BG. Hypermethylation and loss of heterozygosity of tumor suppressor genes on chromosome 3p in cervical cancer. Cancer Lett 2007;255:26–33.PubMedCrossRef

27.

Honjo N, Gunduz M, Fukushima K, Cengiz B, Beder LB, Gunduz E, Nagatsuka H, Xiao J, Shimizu K, Nishizaki K. Comprehensive loss of heterozygosity analysis and identification of a novel hotspot at 3p21 in salivary gland neoplasms. Otolaryngol Head Neck Surg 2007;137:119–25.PubMedCrossRef

28.

Kardas I, Mrozek K, Babinska M, Krajka K, Hadaczek P, Lubinski J, Roszkiewicz A, Kuziemska E, Limon J. Cytogenetic and molecular findings in 75 clear cell renal cell carcinomas. Oncol Rep 2005;13:949–56.

29.

Paterson RF, Ulbright TM, MacLennan GT, Zhang S, Pan CX, Sweeney CJ, Moore CR, Foster RS, Koch MO, Eble JN, Cheng L. Molecular genetic alterations in the laser-capture-microdissected stroma adjacent to bladder carcinoma. Cancer 2003;98:1830–6.PubMedCrossRef

30.

Grepmeier U, Dietmaier W, Merk J, Wild PJ, Obermann EC, Pfeifer M, Hofstaedter F, Hartmann A, Woenckhaus M. Deletions at chromosome 2q and 12p are early and frequent molecular alterations in bronchial epithelium and NSCLC of long-term smokers. Int J Oncol 2005;27:481–8.PubMed

31.

Hatta Y, Takeuchi S, Yokota J, Koeffler HP. Ovarian cancer has frequent loss of heterozygosity at chromosome 12p12.3–13.1 (region of TEL and Kip1 loci) and chromosome 12q23-ter: evidence for two new tumour-suppressor genes. Br J Cancer 1997;75:1256–62.PubMed

32.

Wan J, Li H, Li Y, Zhu ML, Zhao P. Loss of heterozygosity of Kras2 gene on 12p12–13 in Chinese colon carcinoma patients. World J Gastroenterol 2006;12:1033–7.PubMed

33.

Kibel AS, Faith DA, Bova GS, Isaacs WB. Loss of heterozygosity at 12P12–13 in primary and metastatic prostate adenocarcinoma. J Urol 2000;164:192–6.PubMedCrossRef

34.

Baccichet A, Sinnett D. Frequent deletion of chromosome 12p12.3 in children with acute lymphoblastic leukaemia. Br J Haematol 1997;99:107–14.PubMedCrossRef

35.

Powell JA, Gardner AE, Bais AJ, Hinze SJ, Baker E, Whitmore S, Crawford J, Kochetkova M, Spendlove HE, Doggett NA, Sutherland GR, Callen DF, Kremmidiotis G. Sequencing, transcript identification, and quantitative gene expression profiling in the breast cancer loss of heterozygosity region 16q24.3 reveal three potential tumor-suppressor genes. Genomics 2002;80:303–10.PubMedCrossRef

36.

Launonen V, Mannermaa A, Stenback F, Kosma VM, Puistola U, Huusko P, Anttila M, Bloigu R, Saarikoski S, Kauppila A, Winqvist R. Loss of heterozygosity at chromosomes 3, 6, 8, 11, 16, and 17 in ovarian cancer: correlation to clinicopathological variables. Cancer Genet Cytogenet 2000;122:49–54.PubMedCrossRef

37.

Harkonen P, Kyllonen AP, Nordling S, Vihko P. Loss of heterozygosity in chromosomal region 16q24.3 associated with progression of prostate cancer. Prostate 2005;62:267–74.PubMedCrossRef

38.

Saffroy R, Riou P, Soler G, Azoulay D, Emile JF, Debuire B, Lemoine A. Analysis of alterations of WFDC1, a new putative tumour suppressor gene, in hepatocellular carcinoma. Eur J Hum Genet 2002;10:239–44.PubMedCrossRef

39.

Narayan G, Pulido HA, Koul S, Lu XY, Harris CP, Yeh YA, Vargas H, Posso H, Terry MB, Gissmann L, Schneider A, Mansukhani M, Rao PH, Murty VV. Genetic analysis identifies putative tumor suppressor sites at 2q35-q36.1 and 2q36.3-q37.1 involved in cervical cancer progression. Oncogene 2003;22:3489–99.PubMedCrossRef

40.

Zhou X, Jordan RC, Li Y, Huang BL, Wong DT. Frequent allelic imbalances at 8p and 11q22 in oral and oropharyngeal epithelial dysplastic lesions. Cancer Genet Cytogenet 2005;161:86–9.PubMedCrossRef

41.

Lai J, Flanagan J, Phillips WA, Chenevix-Trench G, Arnold J. Analysis of the candidate 8p21 tumour suppressor, BNIP3L, in breast and ovarian cancer. Br J Cancer 2003;88:270–6.PubMedCrossRef

42.

Presti JC Jr., Wilhelm M, Reuter V, Russo P, Motzer R, Waldman F. Allelic loss on chromosomes 8 and 9 correlates with clinical outcome in locally advanced clear cell carcinoma of the kidney. J Urol 2002;167:1464–8.PubMedCrossRef

43.

Knowles MA, Aveyard JS, Taylor CF, Harnden P, Bass S. Mutation analysis of the 8p candidate tumour suppressor genes DBC2 (RHOBTB2) and LZTS1 in bladder cancer. Cancer Lett 2005;225:121–30.PubMedCrossRef

44.

Lutchman M, Pack S, Kim AC, Azim A, Emmert-Buck M, van Huffel C, Zhuang Z, Chishti AH. Loss of heterozygosity on 8p in prostate cancer implicates a role for dematin in tumor progression. Cancer Genet Cytogenet 1999;115:65–9.PubMedCrossRef

45.

Lu T, Hano H. Identification of minimal regions of deletion at 8p23.1–22 associated with metastasis of hepatocellular carcinoma. Liver Int 2007;27:782–90.PubMedCrossRef

46.

Kozlowski L, Filipowski T, Rucinska M, Pepinski W, Janica J, Skawronska M, Poznanski J, Wojtukiewicz MZ. Loss of heterozygosity on chromosomes 2p, 3p, 18q21.3 and 11p15.5 as a poor prognostic factor in stage II and III (FIGO) cervical cancer treated by radiotherapy. Neoplasma 2006;53:440–3.PubMed

47.

Hirata H, Matsuyama H, Matsumoto H, Korenaga Y, Ohmi C, Sakano S, Yoshihiro S, Naito K. Deletion mapping of 18q in conventional renal cell carcinoma. Cancer Genet Cytogenet 2005;163:101–5.PubMedCrossRef

48.

Ohtaki N, Yamaguchi A, Goi T, Fukaya T, Takeuchi K, Katayama K, Hirose K, Urano T. Somatic alterations of the DPC4 and Madr2 genes in colorectal cancers and relationship to metastasis. Int J Oncol 2001;18:265–70.PubMed

49.

Rowley H, Jones AS, Field JK. Chromosome 18: a possible site for a tumour suppressor gene deletion in squamous cell carcinoma of the head and neck. Clin Otolaryngol Allied Sci 1995;20:266–71.PubMedCrossRef

50.

Mariani L, Deiana G, Vassella E, Fathi AR, Murtin C, Arnold M, Vajtai I, Weis J, Siegenthaler P, Schobesberger M, Reinert MM. Loss of heterozygosity 1p36 and 19q13 is a prognostic factor for overall survival in patients with diffuse WHO grade 2 gliomas treated without chemotherapy. J Clin Oncol 2006;24:4758–63.PubMedCrossRef

51.

Bepler G, Gautam A, McIntyre LM, Beck AF, Chervinsky DS, Kim YC, Pitterle DM, Hyland A. Prognostic significance of molecular genetic aberrations on chromosome segment 11p15.5 in non-small-cell lung cancer. J Clin Oncol 2002;20:1353–60.PubMedCrossRef

52.

Xu XL, Wu LC, Du F, Davis A, Peyton M, Tomizawa Y, Maitra A, Tomlinson G, Gazdar AF, Weissman BE, Bowcock AM, Baer R, Minna JD. Inactivation of human SRBC, located within the 11p15.5-p15.4 tumor suppressor region, in breast and lung cancers. Cancer Res 2001;61:7943–9.PubMed

53.

Eccles DM, Gruber L, Stewart M, Steel CM, Leonard RC. Allele loss on chromosome 11p is associated with poor survival in ovarian cancer. Dis Markers 1992;10:95–9.PubMed

54.

Dahiya R, McCarville J, Lee C, Hu W, Kaur G, Carroll P, Deng G. Deletion of chromosome 11p15, p12, q22, q23–24 loci in human prostate cancer. Int J Cancer 1997;72:283–8.PubMedCrossRef

55.

Rainho CA, Kowalski LP, Rogatto SR. Loss of imprinting and loss of heterozygosity on 11p15.5 in head and neck squamous cell carcinomas. Head Neck 2001;23:851–9.PubMedCrossRef

56.

Schiebe M, Ohneseit P, Hoffmann W, Meyermann R, Rodemann HP, Bamberg M. Loss of heterozygosity at 11p15 and p53 alterations in malignant gliomas. J Cancer Res Clin Oncol 2001;127:325–8.PubMedCrossRef

57.

Karnik P, Chen P, Paris M, Yeger H, Williams BR. Loss of heterozygosity at chromosome 11p15 in Wilms tumors: identification of two independent regions. Oncogene 1998;17:237–40.PubMedCrossRef

58.

Hammond C, Jeffers L, Carr BI, Simon D. Multiple genetic alterations, 4q28, a new suppressor region, and potential gender differences in human hepatocellular carcinoma. Hepatology 1999;29:1479–85.PubMedCrossRef

59.

Arai K, Shibahara T, Yamamoto N, Noma H. The presence of candidate tumor suppressor gene loci at chromosome 3p for oral squamous cell carcinomas. Oral Oncol 2002;38:763–71.PubMedCrossRef

60.

Schayek H, Krupsky M, Yaron P, Yellin A, Simansky DA, Friedman E. Genetic analyses of non-small cell lung cancer in Jewish Israeli patients. Isr Med Assoc J 2006;8:159–63.PubMed

61.

Fu Q, Yao GY, Tang XL, Chen LR, Zheng ZX. [Microsatellite instability and allele-specific chromosome 3p deletion in breast cancer and precancerous lesions]. Zhonghua Zhong Liu Za Zhi 2007;29:34–40.PubMed

62.

Edelmann J, Richter K, Hanel C, Hering S, Horn LC. X chromosomal and autosomal loss of heterozygosity and microsatellite instability in human cervical carcinoma. Int J Gynecol Cancer 2006;16:1248–53.PubMedCrossRef

63.

Mathew R, Arora S, Mathur M, Chattopadhyay TK, Ralhan R. Esophageal squamous cell carcinomas with DNA replication errors (RER+) are associated with p16/pRb loss and wild-type p53. J Cancer Res Clin Oncol 2001;127:603–12.PubMedCrossRef

64.

Emile JF, Lemoine A, Azoulay D, Debuire B, Bismuth H, Reynes M. Histological, genomic and clinical heterogeneity of clear cell hepatocellular carcinoma. Histopathology 2001;38:225–31.PubMedCrossRef

65.

Li M, Zhang ZF, Reuter VE, Cordon-Cardo C. Chromosome 3 allelic losses and microsatellite alterations in transitional cell carcinoma of the urinary bladder. Am J Pathol 1996;149:229–35.PubMed

66.

Tangir J, Loughridge NS, Berkowitz RS, Muto MG, Bell DA, Welch WR, Mok SC. Frequent microsatellite instability in epithelial borderline ovarian tumors. Cancer Res 1996;56:2501–5.PubMed

67.

Ono K, Miyakawa A, Fukuda M, Shiiba M, Uzawa K, Watanabe T, Miya T, Yokoe H, Imai Y, Tanzawa H. Allelic loss on the short arm of chromosome 8 in oral squamous cell carcinoma. Oncol Rep 1999;6:785–9.PubMed

68.

Woenckhaus M, Stoehr R, Dietmaier W, Wild PJ, Zieglmeier U, Foerster J, Merk J, Blaszyk H, Pfeifer M, Hofstaedter F, Hartmann A. Microsatellite instability at chromosome 8p in non-small cell lung cancer is associated with lymph node metastasis and squamous differentiation. Int J Oncol 2003;23:1357–63.PubMed

69.

Choi SW, Lee KJ, Bae YA, Min KO, Kwon MS, Kim KM, Rhyu MG. Genetic classification of colorectal cancer based on chromosomal loss and microsatellite instability predicts survival. Clin Cancer Res 2002;8:2311–22.PubMed

70.

Watanabe M, Shiraishi T, Muneyuki T, Nagai M, Fukutome K, Murata M, Kawamura J, Yatani R. Allelic loss and microsatellite instability in prostate cancers in Japan. Oncology 1998;55:569–74.PubMedCrossRef

71.

French AJ, Petroni G, Thibideau SN, Smolkin M, Bissonette E, Roviello F, Harper JC, Koch BR, Anderson SA, Hebbring SJ, Powell SM. Allelic imbalance of 8p indicates poor survival in gastric cancer. J Mol Diagn 2004;6:243–52.PubMed

72.

Pang JZ, Qin LX, Ren N, Ye QH, Ying WD, Liu YK, Tang ZY. [Microsatellite alterations of circulating DNA in the plasma of patients with hepatocellular carcinoma]. Zhonghua Yi Xue Za Zhi 2006;86:1662–5.PubMed

73.

Yamamoto N, Uzawa K, Miya T, Watanabe T, Yokoe H, Shibahara T, Noma H, Tanzawa H. Frequent allelic loss/imbalance on the long arm of chromosome 21 in oral cancer: evidence for three discrete tumor suppressor gene loci. Oncol Rep 1999;6:1223–7.PubMed

74.

Kim DJ, Park JY, Lee MH, Sohn YK. The role of microsatellite instability at chromosome 11p15.5 in the progression of breast ductal carcinoma. J Korean Med Sci 2004;19:698–703.PubMedCrossRef

Title: Cancer and forensic microsatellites
Authors: Karen Page
Eleanor A. M. Graham
Publication date: 01-03-2008
Publisher: Humana Press Inc
Published in: Forensic Science, Medicine and Pathology / Issue 1/2008
Print ISSN: 1547-769X
Electronic ISSN: 1556-2891
DOI: https://doi.org/10.1007/s12024-008-9027-y

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Cancer and forensic microsatellites

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Please log in to get access to this content

Other articles of this Issue 1/2008

Sudden infant death while awake

Báalat 7

Deaths in a head-down position: a case report and review of the literature

The mysterious death of America’s richest woman in 1917, Mary Lil’ (RIP)

Michael D. Pappas, Loren G. Yamamoto, and Okechukwu Anene (Eds.), Pediatric Radiology Review

Fatal bupropion overdose with post mortem blood concentrations