Mutational analysis of BRCA1/2 in a group of 134 consecutive ovarian cancer patients. Novel and recurrent BRCA1/2 alterations detected by next generation sequencing
(2015) In Journal of Applied Genetics 56(2). p.193-198- Abstract
- The importance of proper mutational analysis of BRCA1/2 in individuals at risk for hereditary breast and ovarian cancer syndrome is widely accepted. Standard genetic screening includes targeted analysis of recurrent, population-specific mutations. The purpose of the study was to establish the frequency of germline BRCA1/2 mutations in a group of 134 unrelated patients with primary ovarian cancer. Next generation sequencing analysis revealed a presence of 20 (14.9 %) mutations, where 65 % (n = 13) were recurrent BRCA1 alterations included in the standard diagnostic panel in northern Poland. However, the remaining seven BRCA1/2 mutations (35 %) would be missed by the standard approach and were detected in unique patients. A substantial... (More)
- The importance of proper mutational analysis of BRCA1/2 in individuals at risk for hereditary breast and ovarian cancer syndrome is widely accepted. Standard genetic screening includes targeted analysis of recurrent, population-specific mutations. The purpose of the study was to establish the frequency of germline BRCA1/2 mutations in a group of 134 unrelated patients with primary ovarian cancer. Next generation sequencing analysis revealed a presence of 20 (14.9 %) mutations, where 65 % (n = 13) were recurrent BRCA1 alterations included in the standard diagnostic panel in northern Poland. However, the remaining seven BRCA1/2 mutations (35 %) would be missed by the standard approach and were detected in unique patients. A substantial proportion (n = 5/12; 41 %) of mutation-positive individuals with complete family history reported no incidence of breast or ovarian cancer in their relatives. This observation, together with the raising perspectives for personalized therapy targeting BRCA1/2 signaling pathways indicates the necessity of comprehensive genetic screening in all ovarian cancer patients. However, due to the limited sensitivity of the standard genetic screening presented in this study (65 %) an application of next generation sequencing in molecular diagnostics of BRCA1/2 genes should be considered. (Less)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/5386106
- author
- organization
- publishing date
- 2015
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- BRCA1, BRCA2, Mutations, Next generation sequencing, Ovarian cancer, PARP inhibitors
- in
- Journal of Applied Genetics
- volume
- 56
- issue
- 2
- pages
- 193 - 198
- publisher
- Springer
- external identifiers
-
- wos:000353212900006
- scopus:84939969051
- pmid:25366421
- ISSN
- 1234-1983
- DOI
- 10.1007/s13353-014-0254-5
- language
- English
- LU publication?
- yes
- id
- 21c2251c-1354-406a-bb29-d59cb8bacb83 (old id 5386106)
- date added to LUP
- 2016-04-01 14:22:44
- date last changed
- 2022-04-22 02:56:47
@article{21c2251c-1354-406a-bb29-d59cb8bacb83, abstract = {{The importance of proper mutational analysis of BRCA1/2 in individuals at risk for hereditary breast and ovarian cancer syndrome is widely accepted. Standard genetic screening includes targeted analysis of recurrent, population-specific mutations. The purpose of the study was to establish the frequency of germline BRCA1/2 mutations in a group of 134 unrelated patients with primary ovarian cancer. Next generation sequencing analysis revealed a presence of 20 (14.9 %) mutations, where 65 % (n = 13) were recurrent BRCA1 alterations included in the standard diagnostic panel in northern Poland. However, the remaining seven BRCA1/2 mutations (35 %) would be missed by the standard approach and were detected in unique patients. A substantial proportion (n = 5/12; 41 %) of mutation-positive individuals with complete family history reported no incidence of breast or ovarian cancer in their relatives. This observation, together with the raising perspectives for personalized therapy targeting BRCA1/2 signaling pathways indicates the necessity of comprehensive genetic screening in all ovarian cancer patients. However, due to the limited sensitivity of the standard genetic screening presented in this study (65 %) an application of next generation sequencing in molecular diagnostics of BRCA1/2 genes should be considered.}}, author = {{Ratajska, Magdalena and Krygier, Magdalena and Stukan, Maciej and Kuzniacka, Alina and Koczkowska, Magdalena and Dudziak, Miroslaw and Sniadecki, Marcin and Debniak, Jaroslaw and Wydra, Dariusz and Brozek, Izabela and Biernat, Wojciech and Borg, Åke and Limon, Janusz and Wasag, Bartosz}}, issn = {{1234-1983}}, keywords = {{BRCA1; BRCA2; Mutations; Next generation sequencing; Ovarian cancer; PARP inhibitors}}, language = {{eng}}, number = {{2}}, pages = {{193--198}}, publisher = {{Springer}}, series = {{Journal of Applied Genetics}}, title = {{Mutational analysis of BRCA1/2 in a group of 134 consecutive ovarian cancer patients. Novel and recurrent BRCA1/2 alterations detected by next generation sequencing}}, url = {{https://lup.lub.lu.se/search/files/3939660/8309087.pdf}}, doi = {{10.1007/s13353-014-0254-5}}, volume = {{56}}, year = {{2015}}, }