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| MUTATION ANALYSIS OF THE BRCA1 GENE IN OVARIAN CANCERS |
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| Author(s): TAKAHASHI H, BEHBAKHT K, MCGOVERN PE, CHIU HC, COUCH FJ, WEBER BL, FRIEDMAN LS, KING MC, FURUSATO M, LIVOLSI VA, MENZIN AW, LIU PC, BENJAMIN I, MORGAN MA, KING SA, REBANE BA, CARDONICK A, MIKUTA JJ, RUBIN SC, BOYD J |
| Source: CANCER RESEARCH Volume: 55 Issue: 14 Pages: 2998-3002 Published: JUL 15 1995 |
| Times Cited: 182 References: 37 |
| Abstract: Germline mutations of the BRCA1 tumor suppressor gene on chromosome 17q are involved in a significant fraction of hereditary breast and ovarian cancers. Allelic deletions that include the BRCA1 locus are common in breast and ovarian cancers, implying that somatic mutations of this gene may play an important role in the more common sporadic forms of these tumors as well. The recent cloning of BRCA1 allows direct testing of this hypothesis. A combination of single strand conformation and sequencing analyses was used to examine the 22 coding exons and intronic splice donor and acceptor regions of BRCA1 for mutations in 115 unselected Eases of epithelial ovarian carcinoma. Seven mutations were identified, all of which were present in the germlines of patients with remarkable family or medical histories of breast and/or ovarian cancer, Eighty-nine of these tumors were examined for loss of heterozygosity in the BRCA1 region of chromosome 17q, and 67% of the tumors studied exhibited allelic deletions that included this region. These data are consistent with the hypothesis that BRCA1 mutations are involved in the etiology of hereditary ovarian carcinomas but occur rarely in sporadic tumors, and that the frequent allelic loss on chromosome 17q in this cancer type reflects the involvement of an additional tumor suppressor gene(s). |
| Document Type: Note |
| Language: English |
Addresses:
1. UNIV PENN, MED CTR, DEPT OBSTET & GYNECOL, DIV GYNECOL ONCOL, PHILADELPHIA, PA 19104 USA
2. UNIV PENN, MED CTR, DEPT OBSTET & GYNECOL, DIV GYNECOL ONCOL, PHILADELPHIA, PA 19104 USA
3. UNIV PENN, MED CTR, DEPT PATHOL & LAB MED, SURG PATHOL SECT, PHILADELPHIA, PA 19104 USA
4. UNIV PENN, MED CTR, CTR COMPREHENS CANC, PHILADELPHIA, PA 19104 USA
5. UNIV CALIF BERKELEY, DEPT MOLEC & CELL BIOL, BERKELEY, CA 94720 USA
6. UNIV CALIF BERKELEY, SCH PUBL HLTH, BERKELEY, CA 94720 USA
7. JIKEI UNIV, SCH MED, DEPT PATHOL, TOKYO 105, JAPAN |
| Publisher: AMER ASSOC CANCER RESEARCH, PUBLIC LEDGER BLDG, SUITE 816, 150 S. INDEPENDENCE MALL W., PHILADELPHIA, PA 19106 |
| Subject Category: Oncology |
| IDS Number: RH802 |
| ISSN: 0008-5472 |
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