Literature DB >> 32472759

Beyond the coding genome: non-coding mutations and cancer.

Kaivalya Walavalkar1, Dimple Notani2.   

Abstract

Latest advancements in genomics involving individuals from different races and geographical locations has led to the identification of thousands of common as well as rare genetic variants and copy number variations (CNVs). These studies have surprisingly revealed that the majority of genetic variation is not present within the coding region but rather in the non-coding region of the genome, which is also termed as "Medical Genome". This short review describes how mutations/variations within; regulatory sequences, architectural proteins and transcriptional regulators give rise to the aberrant gene expression profiles that drives cellular transformations and malignancies.

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Year:  2020        PMID: 32472759      PMCID: PMC7611228          DOI: 10.2741/4879

Source DB:  PubMed          Journal:  Front Biosci (Landmark Ed)        ISSN: 2768-6698


  56 in total

1.  Allele-specific transcriptional regulation of IRF4 in melanocytes is mediated by chromatin looping of the intronic rs12203592 enhancer to the IRF4 promoter.

Authors:  Mijke Visser; Robert-Jan Palstra; Manfred Kayser
Journal:  Hum Mol Genet       Date:  2015-01-27       Impact factor: 6.150

2.  MLL-rearranged leukemia is dependent on aberrant H3K79 methylation by DOT1L.

Authors:  Kathrin M Bernt; Nan Zhu; Amit U Sinha; Sridhar Vempati; Joerg Faber; Andrei V Krivtsov; Zhaohui Feng; Natalie Punt; Amanda Daigle; Lars Bullinger; Roy M Pollock; Victoria M Richon; Andrew L Kung; Scott A Armstrong
Journal:  Cancer Cell       Date:  2011-07-12       Impact factor: 31.743

3.  Commonly altered genomic regions in acute myeloid leukemia are enriched for somatic mutations involved in chromatin remodeling and splicing.

Authors:  Anna Dolnik; Julia C Engelmann; Maren Scharfenberger-Schmeer; Julian Mauch; Sabine Kelkenberg-Schade; Berit Haldemann; Tamara Fries; Jan Krönke; Michael W M Kühn; Peter Paschka; Sabine Kayser; Stephan Wolf; Verena I Gaidzik; Richard F Schlenk; Frank G Rücker; Hartmut Döhner; Claudio Lottaz; Konstanze Döhner; Lars Bullinger
Journal:  Blood       Date:  2012-09-13       Impact factor: 22.113

4.  MYC Drives a Subset of High-Risk Pediatric Neuroblastomas and Is Activated through Mechanisms Including Enhancer Hijacking and Focal Enhancer Amplification.

Authors:  Mark W Zimmerman; Yu Liu; Shuning He; Adam D Durbin; Brian J Abraham; John Easton; Ying Shao; Beisi Xu; Shizhen Zhu; Xiaoling Zhang; Zhaodong Li; Nina Weichert-Leahey; Richard A Young; Jinghui Zhang; A Thomas Look
Journal:  Cancer Discov       Date:  2017-12-28       Impact factor: 39.397

5.  Modulation of long noncoding RNAs by risk SNPs underlying genetic predispositions to prostate cancer.

Authors:  Haiyang Guo; Musaddeque Ahmed; Fan Zhang; Cindy Q Yao; SiDe Li; Yi Liang; Junjie Hua; Fraser Soares; Yifei Sun; Jens Langstein; Yuchen Li; Christine Poon; Swneke D Bailey; Kinjal Desai; Teng Fei; Qiyuan Li; Dorota H Sendorek; Michael Fraser; John R Prensner; Trevor J Pugh; Mark Pomerantz; Robert G Bristow; Mathieu Lupien; Felix Y Feng; Paul C Boutros; Matthew L Freedman; Martin J Walsh; Housheng Hansen He
Journal:  Nat Genet       Date:  2016-08-15       Impact factor: 38.330

6.  BAF180 is a critical regulator of p21 induction and a tumor suppressor mutated in breast cancer.

Authors:  Wei Xia; Satoru Nagase; Amy Gerstein Montia; Sergey M Kalachikov; Megan Keniry; Tao Su; Lorenzo Memeo; Hanina Hibshoosh; Ramon Parsons
Journal:  Cancer Res       Date:  2008-03-15       Impact factor: 12.701

Review 7.  MYC activation is a hallmark of cancer initiation and maintenance.

Authors:  Meital Gabay; Yulin Li; Dean W Felsher
Journal:  Cold Spring Harb Perspect Med       Date:  2014-06-02       Impact factor: 6.915

8.  Pharmacologic inhibition of histone demethylation as a therapy for pediatric brainstem glioma.

Authors:  Rintaro Hashizume; Noemi Andor; Yuichiro Ihara; Robin Lerner; Haiyun Gan; Xiaoyue Chen; Dong Fang; Xi Huang; Maxwell W Tom; Vy Ngo; David Solomon; Sabine Mueller; Pamela L Paris; Zhiguo Zhang; Claudia Petritsch; Nalin Gupta; Todd A Waldman; C David James
Journal:  Nat Med       Date:  2014-11-17       Impact factor: 53.440

9.  Enhancer variants: evaluating functions in common disease.

Authors:  Olivia Corradin; Peter C Scacheri
Journal:  Genome Med       Date:  2014-10-28       Impact factor: 11.117

Review 10.  MYC Deregulation in Primary Human Cancers.

Authors:  Manpreet Kalkat; Jason De Melo; Katherine Ashley Hickman; Corey Lourenco; Cornelia Redel; Diana Resetca; Aaliya Tamachi; William B Tu; Linda Z Penn
Journal:  Genes (Basel)       Date:  2017-05-25       Impact factor: 4.096

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  1 in total

Review 1.  Androgen Receptor-Mediated Transcription in Prostate Cancer.

Authors:  Doğancan Özturan; Tunç Morova; Nathan A Lack
Journal:  Cells       Date:  2022-03-05       Impact factor: 6.600

  1 in total

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