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| MUTATIONS IN THE BRCA1 GENE IN FAMILIES WITH EARLY-ONSET BREAST AND OVARIAN-CANCER |
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| Author(s): CASTILLA LH, COUCH FJ, ERDOS MR, HOSKINS KF, CALZONE K, GARBER JE, BOYD J, LUBIN MB, DESHANO ML, BRODY LC, COLLINS FS, WEBER BL |
| Source: NATURE GENETICS Volume: 8 Issue: 4 Pages: 387-391 Published: DEC 1994 |
| Times Cited: 298 References: 26 |
| Abstract: We analysed 50 probands with a family history of breast and/or ovarian cancer for germline mutations in the coding region of the BRCA1 candidate gene, using single-strand conformation polymorphism (SSCP) analysis on PCR-amplified genomic DNA. A total Of eight putative disease-causing alterations were identified: four of these are frameshifts and two are nonsense mutations. In addition, we found two missense mutations, one of which changes the final cysteine of the BRCA1 zinc finger motif to glycine. These data are consistent with a tumour suppressor model, and support the notion that this candidate gene is in fact BRCA1. The heterogeneity of mutations, coupled with the large size of the gene, indicates that clinical application of BRCA1 mutation testing will be technically challenging. |
| Document Type: Article |
| Language: English |
Addresses:
1. UNIV PENN, DEPT INTERNAL MED, PHILADELPHIA, PA 19104 USA
2. NIH, NATL CTR HUMAN GENOME RES, BETHESDA, MD 20892 USA
3. UNIV MICHIGAN, DEPT BIOL, ANN ARBOR, MI 48109 USA
4. HARVARD UNIV, SCH MED, DANA FARBER CANC INST, DIV CANC EPIDEMIOL & CONTROL, BOSTON, MA 02115 USA
5. UNIV PENN, DEPT OBSTET & GYNECOL, PHILADELPHIA, PA 19104 USA
6. STRANG CANC PREVENT CTR, NEW YORK, NY 10021 USA
7. UNIV PENN, DEPT GENET, PHILADELPHIA, PA 19104 USA |
| Publisher: NATURE PUBLISHING CO, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 |
| Subject Category: Genetics & Heredity |
| IDS Number: PV682 |
| ISSN: 1061-4036 |
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