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http://hdl.handle.net/20.500.12188/28516
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Kostovska Maleva, Ivana | en_US |
dc.contributor.author | Jakovchevska, Simona | en_US |
dc.contributor.author | Özdemir, Milena Jakimovska | en_US |
dc.contributor.author | Kiprijanovska, Sanja | en_US |
dc.contributor.author | Kubelka-Sabit, Katerina | en_US |
dc.contributor.author | Jasar, Dzengis | en_US |
dc.contributor.author | Iljovska, Marina | en_US |
dc.contributor.author | Lazareva, Emilija | en_US |
dc.contributor.author | Smichkoska, Snezhana | en_US |
dc.contributor.author | Plaseska-Karanfilska, Dijana | en_US |
dc.date.accessioned | 2023-11-20T12:30:19Z | - |
dc.date.available | 2023-11-20T12:30:19Z | - |
dc.date.issued | 2022 | - |
dc.identifier.issn | 1507-1367 | - |
dc.identifier.uri | http://hdl.handle.net/20.500.12188/28516 | - |
dc.description.abstract | Background: The spectrum of BRCA1 and BRCA2 mutations varies among populations; however, some mutations may be frequent in particular ethnic groups due to the “founder” effect. The c.3700_3704del mutation was previously described as a recurrent BRCA1 variant in Eastern European countries. This study aimed to investigate the frequency of c.3700_3704del BRCA1 mutation in Albanian breast and ovarian cancer patients from North Macedonia and Kosovo. Materials and methods: A total of 327 patients with invasive breast and/or ovarian cancer (111 Albanian women from North Macedonia and 216 from Kosovo) were screened for 13 recurrent BRCA1/2 mutations. Targeted NGS with a panel of 94 cancer-associated genes including BRCA1 and BRCA2 was performed in a selected group of 118 patients. Results: We have identified 21 BRCA1/2 pathogenic variants, 17 (14 BRCA1 and 3 BRCA2) in patients from Kosovo (7.9%) and 4 (1 BRCA1 and 3 BRCA2) in patients from North Macedonia (3.6%). All BRCA1/2 mutations were found in one patient each, except for c.3700_3704del BRCA1 mutation which was observed in 14 unrelated families, all except one originating from Kosovo. The c.3700_3704del mutation accounts for 93% of BRCA1 mutation positive cases and is present with a frequency of 6% among breast cancer patients from Kosovo. Conclusions: This is the first report of BRCA1/2 mutations among breast and ovarian cancer patients from Kosovo. The finding that BRCA1 c.3700_3704del represents a founder mutation in Kosovo with the highest worldwide reported frequency supports the implementation of fast and low-cost screening protocol, regardless of the family history and even a pilot population-based screening in at-risk population. | en_US |
dc.language.iso | en | en_US |
dc.publisher | Greater Poland Cancer Centre, Poland | en_US |
dc.relation.ispartof | Reports of practical oncology and radiotherapy | en_US |
dc.subject | BRCA1 | en_US |
dc.subject | c.3700_3704del | en_US |
dc.subject | founder mutation | en_US |
dc.subject | breast cancer | en_US |
dc.subject | Kosovo | en_US |
dc.title | The highest frequency of BRCA1 c.3700_3704del detected among Albanians from Kosovo | en_US |
dc.type | Article | en_US |
dc.identifier.doi | 10.5603/RPOR.a2022.0030 | - |
dc.identifier.volume | 27 | - |
dc.identifier.issue | 2 | - |
item.fulltext | With Fulltext | - |
item.grantfulltext | open | - |
crisitem.author.dept | Faculty of Medicine | - |
crisitem.author.dept | Faculty of Medicine | - |
Appears in Collections: | Faculty of Medicine: Journal Articles |
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88877-341108-1-PB.pdf | 278.15 kB | Adobe PDF | View/Open |
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