دورية أكاديمية
Association of PALB2 sequence variants with the risk of early-onset breast cancer in patients from Turkey
| العنوان: | Association of PALB2 sequence variants with the risk of early-onset breast cancer in patients from Turkey |
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| المساهمون: | Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Biyoloji Anabilim Dalı., Uludağ Üniversitesi/Tıp Fakültesi/Genel Cerrahi Anabilim Dalı., orcid:0000-0002-3820-424X, orcid:0000-0002-2088-9914, orcid:0000-0002-1619-6680, orcid: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 |
| بيانات النشر: | Springer |
| سنة النشر: | 2016 |
| المجموعة: | Açık Erişim@BUU (Bursa Uludağ Üniversitesi) |
| مصطلحات موضوعية: | 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, Adult, Age of onset, BRCA1 protein, BRCA2 protein, Breast neoplasms, DNA mutational analysis, European continental ancestry group, Female, Genetic association studies, Genetic predisposition to disease, Germ-line mutation, Humans, Middle aged, Nuclear proteins, Polymorphism |
| الوصف: | 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. ; British Association for Psychopharmacology |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| تدمد: | 0301-4851 1573-4978 27573125 |
| العلاقة: | Makale - Uluslararası Hakemli Dergi; UAP(T)-2015/3; Molecular Biology Reports; 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.; https://doi.org/10.1007/s11033-016-4061-4Test; https://link.springer.com/article/10.1007/s11033-016-4061-4Test; http://hdl.handle.net/11452/32250Test; 000387671100010; 2-s2.0-84984647071; 1273; 1284; 43; 11 |
| DOI: | 10.1007/s11033-016-4061-4 |
| الإتاحة: | https://doi.org/10.1007/s11033-016-4061-4Test http://hdl.handle.net/11452/32250Test |
| حقوق: | info:eu-repo/semantics/closedAccess |
| رقم الانضمام: | edsbas.105C70A0 |
| قاعدة البيانات: | BASE |
| تدمد: | 03014851 15734978 27573125 |
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| DOI: | 10.1007/s11033-016-4061-4 |