The contribution of LARGE genomic rearrangements of BRCA1 and BRCA2 gene mutations in breast and ovarian cancer families in a clinical cohort
| Autor: | Gillian Mitchell, Paul A. James, Samantha E. Boyle, R. Doherty, S Macaskill, Victoria Beshay, Joanne McKinley, M Rehfisch, Kathryn Alsop, A Ha, S Kovalenko, S Sawyer, M. Young, Marion Harris, Stephen B. Fox, Geoffrey J. Lindeman |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2012 |
| Předmět: |
Oncology
medicine.medical_specialty endocrine system diseases lcsh:QH426-470 Gene mutation Bioinformatics lcsh:RC254-282 symbols.namesake Internal medicine medicine Multiplex ligation-dependent probe amplification skin and connective tissue diseases Gene Genetics (clinical) Sanger sequencing business.industry Incidence (epidemiology) medicine.disease lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens Human genetics lcsh:Genetics Meeting Abstract Cohort symbols business Ovarian cancer |
| Zdroj: | Hereditary Cancer in Clinical Practice, Vol 10, Iss Suppl 2, p A89 (2012) Hereditary Cancer in Clinical Practice |
| ISSN: | 1897-4287 |
| Popis: | Background The use of multiplex ligation-dependent probe amplification (MLPA) to detect large scale rearrangements is now a standard component of BRCA1 and BRCA2 gene testing in the clinical setting. With the cost of full Sanger sequencing up to 4 times higher than the cost of MLPA, it is important not only to determine the prevalence of these mutations but to ascertain the probability that a family may harbour a large deletion or rearrangement in the BRCA1 and BRCA2 genes. Here we examine the incidence and clinical associations of genomic rearrangements in the BRCA1 and BRCA2 genes in a cohort of index cases from high risk breast and ovarian cancer families recruited from familial cancer centres (FCC). |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full text from SpringerLink