The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds
| العنوان: | The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds |
|---|---|
| المؤلفون: | Russell Bell, Fernand Labrie, Jodi Mcarthur-Morrison, S.C. Snyder, Robert Kehrer, Linda Steele, Thaylon Davis, K. Nguyen, Martine Dumont, J.T. Mitchell, Alun Thomas, Teresa Janecki, Mark H. Skolnick, Lisa A. Cannon-Albright, M. Stringfellow, Chantal Samson, David H. F. Teng, Alexander Kamb, T. Hattier, Barbara L. Weber, Sofia D. Merajver, Dominique Stoppa-Lyonnet, Hiroaki Shizuya, David E. Goldgar, Marianne Schroeder, T.D. Tran, Ping Jiang, Carole Bélanger, Jorunn E. Eyfjord, Simin Berry, Jacques Simard, J.-F. Leblanc, Martine Tranchant, Steinunn Thorlacius, Qian Chen, Robert Bogden, Yi Peng, Jane Weaver-Feldhaus, Sean V. Tavtigian, Fergus J. Couch, Cheryl Frye, Johanna M. Rommens, Alexander K. C. Wong, Srikanth Jammulapati, C. Stroup, Bradley D. Swedlund, Susan L. Neuhausen, Donna M Shattuck-Eidens, Kenneth Offit, J. Swense |
| المصدر: | Nature Genetics. 12:333-337 |
| بيانات النشر: | Springer Science and Business Media LLC, 1996. |
| سنة النشر: | 1996 |
| مصطلحات موضوعية: | Male, endocrine system diseases, Positional cloning, Genetic Linkage, Molecular Sequence Data, Gene Expression, Biology, Polymerase Chain Reaction, Breast Neoplasms, Male, Cell Line, Gene mapping, Genetic linkage, Genetics, Humans, Coding region, Cloning, Molecular, skin and connective tissue diseases, Gene, DNA Primers, Sequence Deletion, BRCA2 Protein, Ovarian Neoplasms, Polymorphism, Genetic, Base Sequence, Chromosomes, Human, Pair 13, Exons, Neoplasm Proteins, Chromosome 17 (human), GenBank, Mutation, Female, Transcription Factors |
| الوصف: | Breast carcinoma is the most common malignancy among women in developed countries. Because family history remains the strongest single predictor of breast cancer risk, attention has focused on the role of highly penetrant, dominantly inherited genes in cancer-prone kindreds (1). BRCA1 was localized to chromosome 17 through analysis of a set of high-risk kindreds (2), and then identified four years later by a positional cloning strategy (3). BRCA2 was mapped to chromosomal 13q at about the same time (4). Just fifteen months later, Wooster et al. (5) reported a partial BRCA2 sequence and six mutations predicted to cause truncation of the BRCA2 protein. While these findings provide strong evidence that the identified gene corresponds to BRCA2, only two thirds of the coding sequence and 8 out of 27 exons were isolated and screened; consequently, several questions remained unanswered regarding the nature of BRCA2 and the frequency of mutations in 13q-linked families. We have now determined the complete coding sequence and exonic structure of BRCA2 (GenBank accession #U43746), and examined its pattern of expression. Here, we provide sequences for a set of PCR primers sufficient to screen the entire coding sequence of BRCA2 using genomic DNA. We also report a mutational analysis of BRCA2 in families selected on the basis of linkage analysis and/or the presence of one or more cases of male breast cancer. Together with the specific mutations described previously, our data provide preliminary insight into the BRCA2 mutation profile. |
| تدمد: | 1546-1718 1061-4036 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2ed0a2178f423da973579178b301888 https://doi.org/10.1038/ng0396-333 |
| حقوق: | CLOSED |
| رقم الأكسشن: | edsair.doi.dedup.....f2ed0a2178f423da973579178b301888 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15461718 10614036 |
|---|