Literature DB >> 31986218

Holistic cancer genome profiling for every patient.

Serena Nik-Zainal1, Yasin Memari1, Helen R Davies1.   

Abstract

Technological advances in the ability to read the human genome have accelerated the speed of sequencing, such that today we can perform whole genome sequencing (WGS) in one day. Until recently, genomic studies have largely been limited to seeking novel scientific discoveries. The application of new insights gained through cancer WGS into the clinical domain, have been relatively limited. Looking ahead, a vast amount of data can be generated by genomic studies. Of note, excellent organisation of genomic and clinical data permits the application of machine-learning methods which can lead to the development of clinical algorithms that could assist future clinicians and genomicists in the analysis and interpretation of individual cancer genomes. Here, we describe what can be gleaned from holistic whole cancer genome profiling and argue that we must build the infrastructure and educational frameworks to support the modern clinical genomicist to prepare for a future where WGS will be the norm.

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Year:  2020        PMID: 31986218      PMCID: PMC7043936          DOI: 10.4414/smw.2020.20158

Source DB:  PubMed          Journal:  Swiss Med Wkly        ISSN: 0036-7672            Impact factor:   2.193


  51 in total

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Authors:  Philip J Stephens; Patrick S Tarpey; Helen Davies; Peter Van Loo; Chris Greenman; David C Wedge; Serena Nik-Zainal; Sancha Martin; Ignacio Varela; Graham R Bignell; Lucy R Yates; Elli Papaemmanuil; David Beare; Adam Butler; Angela Cheverton; John Gamble; Jonathan Hinton; Mingming Jia; Alagu Jayakumar; David Jones; Calli Latimer; King Wai Lau; Stuart McLaren; David J McBride; Andrew Menzies; Laura Mudie; Keiran Raine; Roland Rad; Michael Spencer Chapman; Jon Teague; Douglas Easton; Anita Langerød; Ming Ta Michael Lee; Chen-Yang Shen; Benita Tan Kiat Tee; Bernice Wong Huimin; Annegien Broeks; Ana Cristina Vargas; Gulisa Turashvili; John Martens; Aquila Fatima; Penelope Miron; Suet-Feung Chin; Gilles Thomas; Sandrine Boyault; Odette Mariani; Sunil R Lakhani; Marc van de Vijver; Laura van 't Veer; John Foekens; Christine Desmedt; Christos Sotiriou; Andrew Tutt; Carlos Caldas; Jorge S Reis-Filho; Samuel A J R Aparicio; Anne Vincent Salomon; Anne-Lise Børresen-Dale; Andrea L Richardson; Peter J Campbell; P Andrew Futreal; Michael R Stratton
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7.  The Genomic and Immune Landscapes of Lethal Metastatic Breast Cancer.

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Journal:  Cell Rep       Date:  2019-05-28       Impact factor: 9.423

8.  Somatic mutant clones colonize the human esophagus with age.

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Journal:  Science       Date:  2018-10-18       Impact factor: 47.728

9.  Comprehensive molecular characterization of urothelial bladder carcinoma.

Authors: 
Journal:  Nature       Date:  2014-01-29       Impact factor: 49.962

10.  The topography of mutational processes in breast cancer genomes.

Authors:  Sandro Morganella; Ludmil B Alexandrov; Dominik Glodzik; Xueqing Zou; Helen Davies; Johan Staaf; Anieta M Sieuwerts; Arie B Brinkman; Sancha Martin; Manasa Ramakrishna; Adam Butler; Hyung-Yong Kim; Åke Borg; Christos Sotiriou; P Andrew Futreal; Peter J Campbell; Paul N Span; Steven Van Laere; Sunil R Lakhani; Jorunn E Eyfjord; Alastair M Thompson; Hendrik G Stunnenberg; Marc J van de Vijver; John W M Martens; Anne-Lise Børresen-Dale; Andrea L Richardson; Gu Kong; Gilles Thomas; Julian Sale; Cristina Rada; Michael R Stratton; Ewan Birney; Serena Nik-Zainal
Journal:  Nat Commun       Date:  2016-05-02       Impact factor: 14.919

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Review 3.  Disease-Causing Mutations and Rearrangements in Long Non-coding RNA Gene Loci.

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