No evidence of correlation between mutation at codon 531 of src and the risk of colon cancer in Chinese

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Title:	No evidence of correlation between mutation at codon 531 of src and the risk of colon cancer in Chinese
Authors:	Wang, NM;Yeh, KT;Tsai, CH;Chen, SJ;Chang, JG
Contributors:	附設醫院醫研部;China Med Coll Hosp, Dept Med Res, Div Mol Med, Taichung, Taiwan;Changhua Christian Hosp, Dept Pathol, Changhua, Taiwan
Date:	2000
Issue Date:	2010-09-24 14:55:17 (UTC+8)
Publisher:	ELSEVIER SCI IRELAND LTD
Abstract:	Recently, a putative tumor suppressor gene, PTEN/MMAC1, has been identified at chromosome 10q23.3, which encodes a 403 amino acid dual-specificity phosphatase containing a region of homology to tensin and auxillin. Somatic mutations of the PTEN/MMAC1 gene have been identified in a number of cancer cell lines and primary cancers. Mutations in PTEN/MMAC1 are most frequently found in advanced cancers. To evaluate the role of the PTEN/MMAC1 gene in leukemia, hone marrow and/or peripheral blood from 62 acute myeloid leukemia (AML) patients, 5 hemopoietic cell lines (HL60, U937, Raji, KG-1, K562), and 30 normal controls were analyzed. The results showed aberrant PTEN/MMAC1 transcripts in 15 of the 62 (24%) AML patients, 4 of the 5 cell lines (80%), and 4 of the 30 (13%) normal controls. As in our previous study of TSG101, the abnormal transcripts may result from aberrant RNA splicing as evidenced by the presence of both these aberrant transcripts and normal full length transcripts in all specimens examined. Loss of heterozygosity (LOH) analysis and PCR-SSCP of the entire coding region showed that none of the AML cases had LOH or mutation. Only one frameshift mutation at codon 130 (insertion of CCCG) with premature termination of coding sequence was observed in the U937 cell line. Our results Indicate that the PTEN/MMAC1 gene may play a role in a small percentage of AML, but its significance needs to be further evaluated. Am. J. Hematol. 63:170-175, 2000. (C) 2000 Wiley-Liss, Inc.
Relation:	CANCER LETTERS 150(2):201-204
Appears in Collections:	[China Medical University Hospital] Jurnal articles

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