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| HMSH2 MUTATIONS IN HEREDITARY NONPOLYPOSIS COLORECTAL-CANCER KINDREDS |
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| Author(s): LIU B, PARSONS RE, HAMILTON SR, PETERSEN GM, LYNCH HT, WATSON P, MARKOWITZ S, WILLSON JKV, GREEN J, DELACHAPELLE A, KINZLER KW, VOGELSTEIN B |
| Source: CANCER RESEARCH Volume: 54 Issue: 17 Pages: 4590-4594 Published: SEP 1 1994 |
| Times Cited: 356 References: 36 |
| Abstract: It has recently been shown that hereditary nonpolyposis colorectal cancer (HNPCC) is caused by hereditable defects in DNA mismatch repair genes. However, the fraction of HNPCC due to defects in any one repair gene and the nature of these mutations are not known. We analyzed 29 HNPCC kindreds for mutations in the prototype DNA mismatch repair gene hMSH2 by a combination of linkage analysis, polymerase chain reaction-based screening, and sequencing of the coding region. The complete intron/exon structure of the gene was ascertained to facilitate this analysis. The results suggest that at least 40% of classic HNPCC kindreds are associated with germline mutations in hMSH2 and that most of these mutations produce drastic alterations in the predicted protein product. |
| Document Type: Note |
| Language: English |
Addresses:
1. JOHNS HOPKINS UNIV, SCH MED, DEPT ONCOL, BALTIMORE, MD 21205 USA
2. JOHNS HOPKINS UNIV, SCH MED, DEPT PATHOL, BALTIMORE, MD 21205 USA
3. JOHNS HOPKINS MED INST, SCH HYG & PUBL HLTH, BALTIMORE, MD 21205 USA
4. CREIGHTON UNIV, SCH MED, DEPT PREVENT MED & PUBL HLTH, OMAHA, NE 68178 USA
5. CASE WESTERN RESERVE UNIV, UNIV HOSP CLEVELAND, IRELAND CANC CTR, DEPT MED, CLEVELAND, OH 44106 USA
6. MEM UNIV NEWFOUNDLAND, ST JOHNS A1B 3V6, NF CANADA
7. UNIV HELSINKI, DEPT MED GENET, SF-00014 HELSINKI, FINLAND |
| Publisher: AMER ASSOC CANCER RESEARCH, PUBLIC LEDGER BLDG, SUITE 816, 150 S. INDEPENDENCE MALL W., PHILADELPHIA, PA 19106 |
| Subject Category: Oncology |
| IDS Number: PD695 |
| ISSN: 0008-5472 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |