دورية أكاديمية
Non-coding RNAs underlie genetic predisposition to breast cancer
| العنوان: | Non-coding RNAs underlie genetic predisposition to breast cancer |
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| المؤلفون: | Moradi Marjaneh, M, Beesley, J, O'Mara, TA, Mukhopadhyay, P, Koufariotis, LT, Kazakoff, S, Hussein, N, Fachal, L, Bartonicek, N, Hillman, KM, Kaufmann, S, Sivakumaran, H, Smart, CE, McCart Reed, AE, Ferguson, K, Saunus, JM, Lakhani, SR, Barnes, DR, Antoniou, AC, Dinger, ME, Waddell, N, Easton, DF, Dunning, AM, Chenevix-Trench, G, Edwards, SL, French, JD |
| المصدر: | urn:ISSN:1474-7596 ; urn:ISSN:1474-760X ; Genome Biology, 21, 1, 7 |
| بيانات النشر: | Springer Nature |
| سنة النشر: | 2020 |
| المجموعة: | UNSW Sydney (The University of New South Wales): UNSWorks |
| مصطلحات موضوعية: | Prevention, Human Genome, Genetics, Cancer, Breast Cancer, 2.1 Biological and endogenous factors, 2 Aetiology, Breast Neoplasms, Genome-Wide Association Study, Humans, RNA, Untranslated, Sequence Analysis, anzsrc-for: 05 Environmental Sciences, anzsrc-for: 06 Biological Sciences, anzsrc-for: 08 Information and Computing Sciences |
| الوصف: | Background: Genetic variants identified through genome-wide association studies (GWAS) are predominantly non-coding and typically attributed to altered regulatory elements such as enhancers and promoters. However, the contribution of non-coding RNAs to complex traits is not clear. Results: Using targeted RNA sequencing, we systematically annotated multi-exonic non-coding RNA (mencRNA) genes transcribed from 1.5-Mb intervals surrounding 139 breast cancer GWAS signals and assessed their contribution to breast cancer risk. We identify more than 4000 mencRNA genes and show their expression distinguishes normal breast tissue from tumors and different breast cancer subtypes. Importantly, breast cancer risk variants, identified through genetic fine-mapping, are significantly enriched in mencRNA exons, but not the promoters or introns. eQTL analyses identify mencRNAs whose expression is associated with risk variants. Furthermore, chromatin interaction data identify hundreds of mencRNA promoters that loop to regions that contain breast cancer risk variants. Conclusions: We have compiled the largest catalog of breast cancer-associated mencRNAs to date and provide evidence that modulation of mencRNAs by GWAS variants may provide an alternative mechanism underlying complex traits. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | unknown |
| العلاقة: | http://hdl.handle.net/1959.4/unsworks_69058Test; https://unsworks.unsw.edu.au/bitstreams/b2a476cb-b607-41a3-84ac-2f801c67831c/downloadTest; https://doi.org/10.1186/s13059-019-1876-zTest |
| DOI: | 10.1186/s13059-019-1876-z |
| الإتاحة: | https://doi.org/10.1186/s13059-019-1876-zTest http://hdl.handle.net/1959.4/unsworks_69058Test https://unsworks.unsw.edu.au/bitstreams/b2a476cb-b607-41a3-84ac-2f801c67831c/downloadTest |
| حقوق: | open access ; https://purl.org/coar/access_right/c_abf2Test ; CC BY ; https://creativecommons.org/licenses/by/4.0Test/ ; free_to_read |
| رقم الانضمام: | edsbas.476CA941 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1186/s13059-019-1876-z |
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