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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Fields, P. Cannon-Albright, L. A. McManus, R. Goldgar, D. E. Ormiston, W. Averill, D. Neuhausen, S. L. Stratton, M. R. Daly, P. A. Easton, D. F. Steele, L. Ford, D. Wooster, R. |
| Description | Country affiliation: United kingdom Author Affiliation: Easton DF ( CRC Genetic Epidemiology Unit, Institute of Public Health, Cambridge, United Kingdom. douglas.easton@mrc-bsu.cam.ac.uk) |
| Abstract | The penetrance of the BRCA2 gene on chromosome 13q12-13 has been estimated in two large, systematically ascertained, linked families, by use of a maximum-likelihood method to incorporate both cancer-incidence data and 13q marker typings in the families. The cumulative risk of breast cancer in female gene carriers was estimated to be 59.8% by age 50 years (95% confidence interval [95% CI] 25.9%-78.5%) and 79.5% by age 70 years (95% CI 28.9%-97.5%). The cumulative risk of breast cancer in male carriers was estimated to be 6.3% (95% CI 1.4%-25.6%) by age 70 years. There was no evidence of any risk difference between the two families. These results indicate that the lifetime breast cancer risk in BRCA2 carriers, for at least a subset of mutations, is comparable to that for BRCA1. A significant excess of ovarian cancer in gene carriers was observed (relative risk 17.69, based on three cases), but the absolute risk of ovarian cancer was less than that reported for BRCA1. Significant excesses of laryngeal cancer (relative risk 7.67, based on two possible carriers) and prostate cancer (relative risk 2.89, based on five possible carriers) were also observed. One case of ocular melanoma, as well as a second eye cancer of unspecified histology, occurred in obligate gene carriers. |
| ISSN | 00029297 |
| e-ISSN | 15376605 |
| Journal | The American Journal of Human Genetics |
| Issue Number | 1 |
| Volume Number | 61 |
| Language | English |
| Publisher | Cell Press (on behalf of American Society of Human Genetics) |
| Publisher Date | 1997-07-01 |
| Publisher Place | United States |
| Access Restriction | Open |
| Subject Keyword | Breast Neoplasms Genetics Chromosomes, Human, Pair 13 Genetic Linkage Neoplasm Proteins Transcription Factors Brca2 Protein Genetic Markers Pedigree Research Support, Non-u.s. Gov't Discipline Human Genetics |
| Content Type | Text |
| Resource Type | Article |
| Subject | Genetics Genetics (clinical) |
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