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| GERMLINE MUTATIONS OF THE BRCA1 GENE IN BREAST AND OVARIAN-CANCER FAMILIES PROVIDE EVIDENCE FOR A GENOTYPE-PHENOTYPE CORRELATION |
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| Author(s): GAYTHER SA, WARREN W, MAZOYER S, RUSSELL PA, HARRINGTON PA, CHIANO M, SEAL S, HAMOUDI R, VANRENSBURG EJ, DUNNING AM, LOVE R, EVANS G, EASTON D, CLAYTON D, STRATTON MR, PONDER BAJ |
| Source: NATURE GENETICS Volume: 11 Issue: 4 Pages: 428-433 Published: DEC 1995 |
| Times Cited: 354 References: 21 |
| Abstract: Mutations in the BRCA1 gene, discovered in 1994, are associated with an 80-90% lifetime risk of breast cancer. We have analysed 60 families with a history of breast and/or ovarian cancer for germline mutations in BRCA1. Twenty-two different mutations were detected in 32 families (53%), of which 14 are previously unreported. We observed a significant correlation between the location of the mutation in the gene and the ratio of breast to ovarian cancer incidence within each family. Our data suggest a transition in risk such that mutations in the 3' third of the gene are associated with a lower proportion of ovarian cancer. Haplotype analysis supports previous data which suggest some BRCA1 mutation carriers have common ancestors; however, we have found at least two examples where recurrent mutations appear to have arisen independently. |
| Document Type: Article |
| Language: English |
| Reprint Address: GAYTHER, SA (reprint author), ADDENBROOKES HOSP, CRC, HUMAN CANC GENET RES GRP, BOX 238, HILLS RD, CAMBRIDGE CB2 2QQ, ENGLAND |
Addresses:
1. INST CANC RES, HADDOW LABS, MOLEC CARCINOGENESIS SECT, SUTTON SM2 5NG, SURREY ENGLAND
2. INST PUBL HLTH, MRC, BIOSTAT UNIT, CAMBRIDGE CB2 2SR, ENGLAND
3. UNIV PRETORIA, DEPT HUMAN GENET, PRETORIA 0001, SOUTH AFRICA
4. CANC PREVENT PROGRAMME, MADISON, WI 53706 USA
5. ST MARYS HOSP, REG GENET SERV, MANCHESTER M13 0JH, LANCS ENGLAND
6. INST PUBL HLTH, DEPT COMMUNITY MED, CAMBRIDGE CB2 2SR, ENGLAND |
| Publisher: NATURE PUBLISHING CO, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 |
| Subject Category: Genetics & Heredity |
| IDS Number: TH629 |
| ISSN: 1061-4036 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |