Literature DB >> 35737091

Whole-exome sequencing of Indian prostate cancer reveals a novel therapeutic target: POLQ.

Febina Ravindran1, Anika Jain1, Sagar Desai1,2, Navjoth Menon1, Kriti Srivastava1, Pushpinder Singh Bawa1, K Sateesh3, N Srivatsa3, S K Raghunath3, Subhashini Srinivasan1, Bibha Choudhary4.   

Abstract

PURPOSE: Prostate cancer is the second most common cancer diagnosed worldwide and the third most common cancer among men in India. This study's objective was to characterise the mutational landscape of Indian prostate cancer using whole-exome sequencing to identify population-specific polymorphisms.
METHODS: Whole-exome sequencing was performed of 58 treatment-naive primary prostate tumors of Indian origin. Multiple computational and statistical analyses were used to profile the known common mutations, other deleterious mutations, driver genes, prognostic biomarkers, and gene signatures unique to each clinical parameter. Cox analysis was performed to validate survival-associated genes. McNemar test identified genes significant to recurrence and receiver-operating characteristic (ROC) analysis was conducted to determine its accuracy. OncodriveCLUSTL algorithm was used to deduce driver genes. The druggable target identified was modeled with its known inhibitor using Autodock.
RESULTS: TP53 was the most commonly mutated gene in our cohort. Three novel deleterious variants unique to the Indian prostate cancer subtype were identified: POLQ, FTHL17, and OR8G1. COX regression analysis identified ACSM5, a mitochondrial gene responsible for survival. CYLC1 gene, which encodes for sperm head cytoskeletal protein, was identified as an unfavorable prognostic biomarker indicative of recurrence. The novel POLQ mutant, also identified as a driver gene, was evaluated as the druggable target in this study. POLQ, a DNA repair enzyme implicated in various cancer types, is overexpressed and is associated with a poor prognosis. The mutant POLQ was subjected to structural analysis and modeled with its known inhibitor novobiocin resulting in decreased binding efficiency necessitating the development of a better drug.
CONCLUSION: In this pilot study, the molecular profiling using multiple computational and statistical analyses revealed distinct polymorphisms in the Indian prostate cancer cohort. The mutational signatures identified provide a valuable resource for prognostic stratification and targeted treatment strategies for Indian prostate cancer patients. The DNA repair enzyme, POLQ, was identified as the druggable target in this study.
© 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.

Entities:  

Keywords:  Driver mutations; Indian prostate cancer; POLQ mutation; Targeted therapy; Whole-exome sequencing

Year:  2022        PMID: 35737091     DOI: 10.1007/s00432-022-04111-0

Source DB:  PubMed          Journal:  J Cancer Res Clin Oncol        ISSN: 0171-5216            Impact factor:   4.553


  39 in total

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Authors:  Pablo Cingolani; Adrian Platts; Le Lily Wang; Melissa Coon; Tung Nguyen; Luan Wang; Susan J Land; Xiangyi Lu; Douglas M Ruden
Journal:  Fly (Austin)       Date:  2012 Apr-Jun       Impact factor: 2.160

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Journal:  Nat Rev Cancer       Date:  2007-02       Impact factor: 60.716

3.  Exome sequencing identifies recurrent SPOP, FOXA1 and MED12 mutations in prostate cancer.

Authors:  Christopher E Barbieri; Sylvan C Baca; Michael S Lawrence; Francesca Demichelis; Mirjam Blattner; Jean-Philippe Theurillat; Thomas A White; Petar Stojanov; Eliezer Van Allen; Nicolas Stransky; Elizabeth Nickerson; Sung-Suk Chae; Gunther Boysen; Daniel Auclair; Robert C Onofrio; Kyung Park; Naoki Kitabayashi; Theresa Y MacDonald; Karen Sheikh; Terry Vuong; Candace Guiducci; Kristian Cibulskis; Andrey Sivachenko; Scott L Carter; Gordon Saksena; Douglas Voet; Wasay M Hussain; Alex H Ramos; Wendy Winckler; Michelle C Redman; Kristin Ardlie; Ashutosh K Tewari; Juan Miguel Mosquera; Niels Rupp; Peter J Wild; Holger Moch; Colm Morrissey; Peter S Nelson; Philip W Kantoff; Stacey B Gabriel; Todd R Golub; Matthew Meyerson; Eric S Lander; Gad Getz; Mark A Rubin; Levi A Garraway
Journal:  Nat Genet       Date:  2012-05-20       Impact factor: 38.330

4.  The expansion of the PRAME gene family in Eutheria.

Authors:  Ti-Cheng Chang; Yang Yang; Hiroshi Yasue; Arvind K Bharti; Ernest F Retzel; Wan-Sheng Liu
Journal:  PLoS One       Date:  2011-02-10       Impact factor: 3.240

5.  The mutational landscape of lethal castration-resistant prostate cancer.

Authors:  Catherine S Grasso; Yi-Mi Wu; Dan R Robinson; Xuhong Cao; Saravana M Dhanasekaran; Amjad P Khan; Michael J Quist; Xiaojun Jing; Robert J Lonigro; J Chad Brenner; Irfan A Asangani; Bushra Ateeq; Sang Y Chun; Javed Siddiqui; Lee Sam; Matt Anstett; Rohit Mehra; John R Prensner; Nallasivam Palanisamy; Gregory A Ryslik; Fabio Vandin; Benjamin J Raphael; Lakshmi P Kunju; Daniel R Rhodes; Kenneth J Pienta; Arul M Chinnaiyan; Scott A Tomlins
Journal:  Nature       Date:  2012-07-12       Impact factor: 49.962

6.  Using Drosophila melanogaster as a Model for Genotoxic Chemical Mutational Studies with a New Program, SnpSift.

Authors:  Pablo Cingolani; Viral M Patel; Melissa Coon; Tung Nguyen; Susan J Land; Douglas M Ruden; Xiangyi Lu
Journal:  Front Genet       Date:  2012-03-15       Impact factor: 4.599

7.  I-Mutant2.0: predicting stability changes upon mutation from the protein sequence or structure.

Authors:  Emidio Capriotti; Piero Fariselli; Rita Casadio
Journal:  Nucleic Acids Res       Date:  2005-07-01       Impact factor: 16.971

8.  Identification of complex genomic rearrangements in cancers using CouGaR.

Authors:  Misko Dzamba; Arun K Ramani; Pawel Buczkowicz; Yue Jiang; Man Yu; Cynthia Hawkins; Michael Brudno
Journal:  Genome Res       Date:  2016-11-14       Impact factor: 9.043

9.  Comparing the performance of selected variant callers using synthetic data and genome segmentation.

Authors:  Xiaopeng Bian; Bin Zhu; Mingyi Wang; Ying Hu; Qingrong Chen; Cu Nguyen; Belynda Hicks; Daoud Meerzaman
Journal:  BMC Bioinformatics       Date:  2018-11-19       Impact factor: 3.169

10.  The role of androgen receptor mutations in prostate cancer progression.

Authors:  G N Brooke; C L Bevan
Journal:  Curr Genomics       Date:  2009-03       Impact factor: 2.236

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