作者: Susan J. Ramus , Patricia A. Harrington , Carole Pye , Richard A. DiCioccio , Mark J. Cox
DOI: 10.1002/HUMU.20599
关键词: Biology 、 Genetic testing 、 Gene 、 Gene duplication 、 Breast cancer 、 Cancer research 、 Ovarian cancer 、 Genetics 、 Mutation 、 Germline mutation 、 Exon
摘要: A total of 283 epithelial ovarian cancer families from the United Kingdom (UK) and States (US) were screened for coding sequence changes large genomic alterations (rearrangements deletions) in BRCA1 BRCA2 genes. Deleterious mutations identified 104 (37%) 25 (9%). Of mutations, 12 alterations; thus this type change represented 12% all mutations. Six carried a previously described exon 13 duplication, known to be UK founder mutation. The remaining six unreported comprised five deletions an amplification 15. One was deletion exons 19-20. prevalence BRCA1/2 correlated with extent breast families. 37 containing more than two cases at least one case diagnosis less 60 years age, 30 (81%) had mutation appreciably without cancer; found only 38 out 141 (27%) only, 59 (63%) three or cases. These data indicate that are major susceptibility genes but other may exist. Finally, it is likely these will clinical importance individuals history cancer, providing accurate estimates their disease risks.