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Başlık: Novel germline BRCA1 and BRCA2 mutations in Turkish women with breast and/or ovarian cancer and their relatives
Yazarlar: Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Biyoloji ve Genetik Anabilim Dalı.
Uludağ Üniversitesi/Tıp Fakültesi/Meme Cerrahisi Anabilim Dalı.
0000-0002-1619-6680
0000-0002-3820-424X
0000-0001-7904-883X
Egeli, Ünal
Çeçener, Gülşah
Tunca, Berrin
Taşdelen, İsmet
ABI-6078-2020
AAP-9988-2020
AAH-1420-2021
55665145000
6508156530
6602965754
9637821500
Anahtar kelimeler: Oncology
Turkish population
Ovarian cancer
Novel mutation
Breast cancer
BRCA1 and BRCA2 genes
Polymorphisms
Brca1/brca2
Prevalence
Families
Susceptibility
Line brca1
Common brca1
Gene-mutations
Founder mutations
Risk
Yayın Tarihi: 2006
Yayıncı: Taylor & Francis
Atıf: Egeli, Ü. vd. (2006). ''Novel germline BRCA1 and BRCA2 mutations in Turkish women with breast and/or ovarian cancer and their relatives''. Cancer Investigation, 92(6), 481-486.
Özet: BRCA1 and BRCA2 gene mutations in patients with breast and/or ovarian cancer have been not characterized in the Turkish population until now. A total of 87 female subjects from two sets of families (38 families total) provided blood samples from which DNA was extracted. All coding exons of the BRCA1 and BRCA2 genes were screened for mutations with heteroduplex analysis and sequencing. Fourteen of the families (49 subjects comprising 17 patients and 32 unaffected relatives) had at least 2 women affected by breast and/or ovarian cancer. The other 24 families (38 subjects unaffected by breast and/or ovarian cancer) also had a history of these 2 forms of cancer. Six different sequence variants were detected: one previously described truncating mutation (5382insC) and one novel polymorphism (3663C -> A) in BRCA1, and 2 novel truncating mutations (9329insC and 9934insG), one novel intronic polymorphism 7069+41(TTTT -> AAAG), and one previously reported global polymorphism (1093A -> C) in BRCA2. BRCAPRO software was used for analysis, and the results showed that the level of risk for both breast and ovarian cancer increased with age in women who carried the mutation. In conclusion, these findings contribute significantly to what currently is known about the types and impact of germline BRCA1 and BRCA2 mutations in Turkish women.
URI: https://doi.org/10.1080/07357900600814706
https://www.tandfonline.com/doi/full/10.1080/07357900600814706
http://hdl.handle.net/11452/22359
ISSN: 0735-7907
1532-4192
Koleksiyonlarda Görünür:Scopus
Web of Science

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