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Başlık: Association of PALB2 sequence variants with the risk of early-onset breast cancer in patients from Turkey
Yazarlar: Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Biyoloji Anabilim Dalı.
Uludağ Üniversitesi/Tıp Fakültesi/Genel Cerrahi Anabilim Dalı.
0000-0002-3820-424X
0000-0002-2088-9914
0000-0002-1619-6680
0000-0001-7904-883X
Çeçener, Gülşah
Eskiler, Gamze Güney
Egeli, Ünal
Tunca, Berrin
Alemdar, Adem
Gökgöz, Şehsuvar
Taşdelen, İsmet
AAP-9988-2020
AAB-6011-2022
ABI-6078-2020
HIZ-7332-2022
AAH-1420-2021
6508156530
57190947987
55665145000
6602965754
57190943001
6603238737
9637821500
Anahtar kelimeler: Biochemistry & molecular biology
Early-onset breast cancer
Moderate-penetrance genes
PALB2 gene
Turkish population
And/or ovarian-cancer
Germline mutations
Fanconi-anemia
Susceptibility alleles
Truncating mutations
BRCA2 mutations
Families
Women
Identification
Relatives
Yayın Tarihi: 16-Ağu-2016
Yayıncı: Springer
Atıf: Çeçener, G. vd. (2016). "Association of PALB2 sequence variants with the risk of early-onset breast cancer in patients from Turkey". Molecular Biology Reports, 43(11), 1273-1284.
Özet: The PALB2 gene, has been accepted as a moderate-penetrance gene associated with breast cancer susceptibility and this gene product is involved in the DNA damage repair pathway via co-localization with BRCA2. Germline PALB2 mutations are associated with an increased breast cancer risk. However, the prevalence of the diverse types of PALB2 variants depend on the population. Thus, the aim of the present study was to determine, for the first time, the prevalence of PALB2 variants in a Turkish population of BRCA1/BRCA2-negative early-onset patients with breast cancer. In total, 223 Turkish patients with BRCA1/BRCA2 negative early-onset breast cancer and 60 unaffected women were included in the study. All the coding exons and intron/exon boundaries of PALB2 were subjected to mutational analysis by heteroduplex analysis (HDA) and DNA sequencing. Eighteen PALB2 variants were found in breast cancer patients within the Turkish population. Three variants (c.271G>A, c.404C>A and c.2981T>A) have not been previously reported. In addition, nine intronic variants were described, and this study is the first to describe the c.1685-44T>A intronic variant. The prevalence of possible pathogenic PALB2 variants was found to be 4.03 % in BRCA1/2-negative Turkish patients with early-onset breast cancer. Different variants of PALB2 have been reported in the literature, and the prevalence of these variants could different for each population. This is the first study to investigate the prevalence of PALB2 variants in Turkish patients with early-onset breast cancer.
URI: https://doi.org/10.1007/s11033-016-4061-4
https://link.springer.com/article/10.1007/s11033-016-4061-4
http://hdl.handle.net/11452/32250
ISSN: 0301-4851
1573-4978
Koleksiyonlarda Görünür:Scopus
Web of Science

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