tab002ccc: Studies that have used molecular genetic alterations to identify tumour cells in clinical samples

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Studies that have used molecular genetic alterations to identify tumour cells in clinical samples

Paul D.P. Pharoah and Carlos Caldas

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Table 2. Studies that have used molecular genetic alterations to identify tumour cells in clinical samples^a (tab002ccc)
Cancer	Type of clinical sample	Gene in which mutation(s)/alteration(s) were detected	Refs
Bladder	Urine	P53^b	12
Bladder	Urine	Microsatellite instability^c and loss of heterozygosity	19
Colorectal	Stool	K-ras^d	81, 82, 83, 84
	Whole-gut lavage fluid	K-ras, P53	18
	Serum	K-ras, P53	26, 27, 28, 29
	Endoscopic biopsy specimens	K-ras	85
	Colonic washing	K-ras	86
Head and neck	Serum	Microsatellite instability and loss of heterozygosity	31
Head and neck	Saliva	Microsatellite instability and loss of heterozygosity	87
Oral/pharyngeal	Saliva	P53	88
Lung	Sputum	K-ras	15
	Plasma	Microsatellite instability	30
	Broncho-alveolar lavage fluid	K-ras	89
Pancreas	Plasma	K-ras	32
	Duodenal fluid	K-ras	90
	Fine-needle aspirate	K-ras	91, 92, 93, 94
	Fine-needle aspirate	P53	92
	Stool	K-ras	20
	Peritoneal effusion	K-ras	95
	Pancreatic juice	K-ras	96, 97, 98, 99
	Cytology smears	K-ras	100
	Bile	K-ras	101
^a This table shows a summary of the findings of a large number of studies, in which gene mutations or other genetic alterations were found in clinical samples. ^b P53 is a tumour suppressor gene, which is located at chromosome 17p. ^c Microsatellites are short tandem repeats of nucleotides, which are dispersed throughout the genome. ^d K-ras is a proto-oncogene that is activated in human cancers by point mutations.

References cited in Table 2

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15 Mao, L. et al. (1994) Detection of oncogene mutations in sputum precedes diagnosis of lung cancer. Cancer Res 54, 1634-1637, PubMed

18 Potter, M.A. et al. (1998) Detection of mutations associated with colorectal cancer in DNA from whole-gut lavage fluid. J Natl Cancer Inst 90, 623-626, PubMed

19 Mao, L. et al. (1996) Molecular detection of primary bladder cancer by microsatellite analysis. Science 271, 659-662, PubMed

20 Caldas, C. et al. (1994) Detection of K-ras mutations in the stool of patients with pancreatic adenocarcinoma and pancreatic ductal hyperplasia. Cancer Res 54, 3568-3573, PubMed

26 Hardingham, J.E. et al. (1995) Detection of circulating tumor cells in colorectal cancer by immunobead- PCR is a sensitive prognostic marker for relapse of disease. Mol Med 1, 789-794, PubMed

27 Hibi, K. et al. (1998) Molecular detection of genetic alterations in the serum of colorectal cancer patients. Cancer Res 58, 1405-1407, PubMed

28 de Kok, J.B. et al. (1997) Detection of tumour DNA in serum of colorectal cancer patients. Scand J Clin Lab Invest 57, 601-604, PubMed

29 Kopreski, M.S. et al. (1997) Detection of mutant K-ras DNA in plasma or serum of patients with colorectal cancer. Br J Cancer 76, 1293-1299, PubMed

30 Chen, X.Q. et al. (1996) Microsatellite alterations in plasma DNA of small cell lung cancer patients. Nat Med 2, 1033-1035, PubMed

31 Nawroz, H. et al. (1996) Microsatellite alterations in serum DNA of head and neck cancer patients. Nat Med 2, 1035-1037, PubMed

32 Yamada, T. et al. (1998) Detection of K-ras gene mutations in plasma DNA of patients with pancreatic adenocarcinoma: correlation with clinicopathological features. Clin Cancer Res 4, 1527-1532, PubMed

81 Sidransky, D. et al. (1992) Identification of ras oncogene mutations in the stool of patients with curable colorectal tumors. Science 256, 102-105, PubMed

82 Hasegawa, Y. et al. (1995) Detection of K-ras mutations in DNAs isolated from feces of patients with colorectal tumors by mutant-allele-specific amplification (MASA). Oncogene 10, 1441-1445, PubMed

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84 Villa, E. et al. (1996) Identification of subjects at risk for colorectal carcinoma through a test based on K-ras determination in the stool. Gastroenterology 110, 1346-1353, PubMed

85 Minamoto, T. et al. (1995) Mutant K-ras in apparently normal mucosa of colorectal cancer patients. Its potential as a biomarker of colorectal tumorigenesis. Cancer 75, 1520-1526, PubMed

86 Tobi, M., Luo, F.C. and Ronai, Z. (1994) Detection of K-ras mutation in colonic effluent samples from patients without evidence of colorectal carcinoma. J Natl Cancer Inst 86, 1007-1010, PubMed

87 Spafford, M.F. et al. (1998) Detection of head and neck squamous cell carcinoma in saliva using microsatellite analysis. Proceedings of the American Association for Cancer Research, 39, 100

88 Boyle, J.O. et al. (1994) Gene mutations in saliva as molecular markers for head and neck squamous cell carcinomas. Am J Surg 168, 429-432, PubMed

89 Mills, N.E. et al. (1995) Detection of K-ras oncogene mutations in bronchoalveolar lavage fluid for lung cancer diagnosis [published erratum appears in J Natl Cancer Inst 1995 Nov 1;87(21):1643]. J Natl Cancer Inst 87, 1056-1060, PubMed

90 Wilentz, R.E. et al. (1998) K-ras mutations in the duodenal fluid of patients with pancreatic carcinoma. Cancer 82, 96-103, PubMed

91 Shibata, D. et al. (1990) Detection of c-K-ras mutations in fine needle aspirates from human pancreatic adenocarcinomas. Cancer Res 50, 1279-1283, PubMed

92 van Es, J.M. et al. (1995) Molecular markers for diagnostic cytology of neoplasms in the head region of the pancreas: mutation of K-ras and overexpression of the P53 protein product. J Clin Pathol 48, 218-222, PubMed

93 Evans, D.B. et al. (1996) Molecular diagnosis of exocrine pancreatic cancer using a percutaneous technique. Ann Surg Oncol 3, 241-246, PubMed

94 Villanueva, A. et al. (1996) Diagnostic utility of K-ras mutations in fine-needle aspirates of pancreatic masses. Gastroenterology 110, 1587-1594, PubMed

95 Yamashita, K. et al. (1998) Detection of K-ras point mutations in the supernatants of peritoneal and pleural effusions for diagnosis complementary to cytologic examination. Am J Clin Pathol 109, 704-711, PubMed

96 Uehara, H. et al. (1996) Diagnosis of pancreatic cancer by K-ras point mutation and cytology of pancreatic juice. Am J Gastroenterol 91, 1616-1621, PubMed

97 Miki, H. et al. (1993) Detection of c-Ki-ras point mutation from pancreatic juice. A useful diagnostic approach for pancreatic carcinoma. Int J Pancreatol 14, 145-148, PubMed

98 Watanabe, H. et al. (1996) Detection of K-ras point mutations at codon 12 in pure pancreatic juice for the diagnosis of pancreatic cancer by PCR-RFLP analysis. Pancreas 12, 18-24, PubMed

99 Berthelemy, P. et al. (1995) Identification of K-ras mutations in pancreatic juice in the early diagnosis of pancreatic cancer. Ann Intern Med 123, 188-191, PubMed

100 Apple, S.K. et al. (1996) Polymerase chain reaction-based K-ras mutation detection of pancreatic adenocarcinoma in routine cytology smears. Am J Clin Pathol 105, 321-326, PubMed

101 Abbruzzese, J.L. et al. (1997) Detection of mutated c-Ki-ras in the bile of patients with pancreatic cancer. Anticancer Res 17, 795-801, PubMed

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