کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
10899320 | 1084363 | 2016 | 5 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Rare ATAD5 missense variants in breast and ovarian cancer patients
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
تحقیقات سرطان
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: Rare ATAD5 missense variants in breast and ovarian cancer patients Rare ATAD5 missense variants in breast and ovarian cancer patients](/preview/png/10899320.png)
چکیده انگلیسی
ATAD5/ELG1 is a protein crucially involved in replication and maintenance of genome stability. ATAD5 has recently been identified as a genomic risk locus for both breast and ovarian cancer through genome-wide association studies. We aimed to investigate the spectrum of coding ATAD5 germ-line mutations in hospital-based series of patients with triple-negative breast cancer or serous ovarian cancer compared with healthy controls. The ATAD5 coding and adjacent splice site regions were analyzed by targeted next-generation sequencing of DNA samples from 273 cancer patients, including 114 patients with triple-negative breast cancer and 159 patients with serous epithelial ovarian cancer, and from 276 healthy females. Among 42 different variants identified, twenty-two were rare missense substitutions, of which 14 were classified as pathogenic by at least one in silico prediction tool. Three of four novel missense substitutions (p.S354I, p.H974R and p.K1466N) were predicted to be pathogenic and were all identified in ovarian cancer patients. Overall, rare missense variants with predicted pathogenicity tended to be enriched in ovarian cancer patients (14/159) versus controls (11/276) (pâ=â0.05, 2df). While truncating germ-line variants in ATAD5 were not detected, it remains possible that several rare missense variants contribute to genetic susceptibility toward epithelial ovarian carcinomas.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Cancer Letters - Volume 376, Issue 1, 28 June 2016, Pages 173-177
Journal: Cancer Letters - Volume 376, Issue 1, 28 June 2016, Pages 173-177
نویسندگان
Ivana Maleva Kostovska, Jing Wang, Natalia Bogdanova, Peter Schürmann, Sabin Bhuju, Robert Geffers, Matthias Dürst, Clemens Liebrich, Rüdiger Klapdor, Hans Christiansen, Tjoung-Won Park-Simon, Peter Hillemanns, Dijana Plaseska-Karanfilska,