دورية أكاديمية
A catalog of curated breast cancer genes.
| العنوان: | A catalog of curated breast cancer genes. |
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| المؤلفون: | Bose M; Biotech Research and Innovation Centre (BRIC), Faculty of Medical and Health Sciences, University of Copenhagen, Copenhagen, Denmark.; Centre for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Blegdamsvej 9, 2100, Copenhagen, Denmark., Benada J; Biotech Research and Innovation Centre (BRIC), Faculty of Medical and Health Sciences, University of Copenhagen, Copenhagen, Denmark., Thatte JV; Biotech Research and Innovation Centre (BRIC), Faculty of Medical and Health Sciences, University of Copenhagen, Copenhagen, Denmark., Kinalis S; Centre for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Blegdamsvej 9, 2100, Copenhagen, Denmark., Ejlertsen B; Department of Clinical Oncology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Nielsen FC; Centre for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Blegdamsvej 9, 2100, Copenhagen, Denmark., Sørensen CS; Biotech Research and Innovation Centre (BRIC), Faculty of Medical and Health Sciences, University of Copenhagen, Copenhagen, Denmark., Rossing M; Centre for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Blegdamsvej 9, 2100, Copenhagen, Denmark. Caroline.maria.rossing@regionh.dk.; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark. Caroline.maria.rossing@regionh.dk. |
| المصدر: | Breast cancer research and treatment [Breast Cancer Res Treat] 2022 Jan; Vol. 191 (2), pp. 431-441. Date of Electronic Publication: 2021 Nov 10. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Kluwer Academic Country of Publication: Netherlands NLM ID: 8111104 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-7217 (Electronic) Linking ISSN: 01676806 NLM ISO Abbreviation: Breast Cancer Res Treat Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: Dordrecht : Kluwer Academic Original Publication: The Hague ; Boston : M. Nijhoff, c1981- |
| مواضيع طبية MeSH: | Breast Neoplasms*/epidemiology , Breast Neoplasms*/genetics, Female ; Genetic Predisposition to Disease ; Genotype ; Humans ; Polymorphism, Single Nucleotide |
| مستخلص: | Purpose: Decades of research have identified multiple genetic variants associated with breast cancer etiology. However, there is no database that archives breast cancer genes and variants responsible for predisposition. We set out to build a dynamic repository of curated breast cancer genes. Methods: A comprehensive literature search was performed in PubMed and Google Scholar, followed by data extraction and harmonization for downstream analysis. Results: Using a subset of 345 studies, we cataloged 652 breast cancer-associated loci across the genome. A majority of these were present in the non-coding region (i.e., intergenic (101) and intronic (345)), whereas only 158 were located within an exon. Using the odds ratio, we identified 429 loci to increase the disease risk and 198 to confer protection against breast cancer, whereas 25 were identified to both increase disease risk and confer protection against breast cancer. Chromosomal ideogram analysis indicated that chromosomes 17 and 19 have the highest density of breast cancer loci. We manually annotated and collated breast cancer genes in which a previous association between rare-monogenic variant and breast cancer has been documented. Finally, network and functional enrichment analysis revealed that steroid metabolism and DNA repair pathways were predominant among breast cancer genes and variants. Conclusions: We have built an online interactive catalog of curated breast cancer genes ( https://cbcg.dk ). This will expedite clinical diagnostics and support the ongoing efforts in managing breast cancer etiology. Moreover, the database will serve as an essential repository when designing new breast cancer multigene panels. (© 2021. The Author(s).) |
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| معلومات مُعتمدة: | R223-2016-956 lundbeckfonden; R269-A15884 kræftens bekæmpelse; R204-A12415 kræftens bekæmpelse; 896102 United Kingdom MCCC_ Marie Curie |
| فهرسة مساهمة: | Keywords: Breast cancer; Common-polygenic variants; DNA repair pathways; Database; Genetic predisposition; Rare-monogenic variants |
| تواريخ الأحداث: | Date Created: 20211110 Date Completed: 20220119 Latest Revision: 20220218 |
| رمز التحديث: | 20240628 |
| مُعرف محوري في PubMed: | PMC8763822 |
| DOI: | 10.1007/s10549-021-06441-y |
| PMID: | 34755241 |
| قاعدة البيانات: | MEDLINE |
Find this article in full text from Springer Verlag. 
Full Text Finder | تدمد: | 1573-7217 |
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| DOI: | 10.1007/s10549-021-06441-y |