Therapeutic and prognostic insights from the analysis of cancer mutational signatures

被引：49

作者：

Brady, Samuel W. ^{[1
]}

Gout, Alexander M. ^{[1
]}

Zhang, Jinghui ^{[1
]}

机构：

[1] St Jude Childrens Res Hosp, Dept Computat Sci, Memphis, TN 38105 USA

来源：

TRENDS IN GENETICS | 2022年 / 38卷 / 02期

关键词：

MISMATCH REPAIR DEFICIENCY; CHILDHOOD-CANCER; MICROSATELLITE INSTABILITY; ACQUIRED-RESISTANCE; CHEMOTHERAPY; MECHANISMS; SURVIVORS; GENOME; RISK; ADENOCARCINOMA;

D O I：

10.1016/j.tig.2021.08.007

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The somatic mutations in each cancer genome are caused by multiple mutational processes, each of which leaves a characteristic imprint (or 'signature'), potentially caused by specific etiologies or exposures. Deconvolution of these signatures offers a glimpse into the evolutionary history of individual tumors. Recent work has shown that mutational signatures may also yield therapeutic and prognostic insights, including the identification of cell-intrinsic signatures as biomarkers of drug response and prognosis. For example, mutational signatures indicating homologous recombination deficiency are associated with poly(ADP)ribose polymerase (PARP) inhibitor sensitivity, whereas APOBEC-associated signatures are associated with ataxia telangiectasia and Rada-related kinase (ATR) inhibitor sensitivity. Furthermore, therapy-induced mutational signatures implicated in cancer progression have also been uncovered, including the identification of thiopurine-induced TP53 mutations in leukemia. In this review, we explore the various ways mutational signatures can reveal new therapeutic and prognostic insights, thus extending their traditional role in identifying disease etiology.

引用

页码：194 / 208

页数：15

共 93 条

[1] The repertoire of mutational signatures in human cancer [J].

Alexandrov, Ludmil B. ;

Kim, Jaegil ;

Haradhvala, Nicholas J. ;

Huang, Mi Ni ;

Ng, Alvin Wei Tian ;

Wu, Yang ;

Boot, Arnoud ;

Covington, Kyle R. ;

Gordenin, Dmitry A. ;

Bergstrom, Erik N. ;

Islam, S. M. Ashiqul ;

Lopez-Bigas, Nuria ;

Klimczak, Leszek J. ;

McPherson, John R. ;

Morganella, Sandro ;

Sabarinathan, Radhakrishnan ;

Wheeler, David A. ;

Mustonen, Ville ;

Getz, Gad ;

Rozen, Steven G. ;

Stratton, Michael R. .

NATURE, 2020, 578 (7793) :94-+

[2] Clock-like mutational processes in human somatic cells [J].

Alexandrov, Ludmil B. ;

Jones, Philip H. ;

Wedge, David C. ;

Sale, Julian E. ;

Campbell, Peter J. ;

Nik-Zainal, Serena ;

Stratton, Michael R. .

NATURE GENETICS, 2015, 47 (12) :1402-+

[3] Signatures of mutational processes in human cancer [J].

Alexandrov, Ludmil B. ;

Nik-Zainal, Serena ;

Wedge, David C. ;

Aparicio, Samuel A. J. R. ;

Behjati, Sam ;

Biankin, Andrew V. ;

Bignell, Graham R. ;

Bolli, Niccolo ;

Borg, Ake ;

Borresen-Dale, Anne-Lise ;

Boyault, Sandrine ;

Burkhardt, Birgit ;

Butler, Adam P. ;

Caldas, Carlos ;

Davies, Helen R. ;

Desmedt, Christine ;

Eils, Roland ;

Eyfjord, Jorunn Erla ;

Foekens, John A. ;

Greaves, Mel ;

Hosoda, Fumie ;

Hutter, Barbara ;

Ilicic, Tomislav ;

Imbeaud, Sandrine ;

Imielinsk, Marcin ;

Jaeger, Natalie ;

Jones, David T. W. ;

Jones, David ;

Knappskog, Stian ;

Kool, Marcel ;

Lakhani, Sunil R. ;

Lopez-Otin, Carlos ;

Martin, Sancha ;

Munshi, Nikhil C. ;

Nakamura, Hiromi ;

Northcott, Paul A. ;

Pajic, Marina ;

Papaemmanuil, Elli ;

Paradiso, Angelo ;

Pearson, John V. ;

Puente, Xose S. ;

Raine, Keiran ;

Ramakrishna, Manasa ;

Richardson, Andrea L. ;

Richter, Julia ;

Rosenstiel, Philip ;

Schlesner, Matthias ;

Schumacher, Ton N. ;

Span, Paul N. ;

Teague, Jon W. .

NATURE, 2013, 500 (7463) :415-+

[4] Long-Term Effects of Radiation Exposure among Adult Survivors of Childhood Cancer: Results from the Childhood Cancer Survivor Study [J].

Armstrong, Gregory T. ;

Stovall, Marilyn ;

Robison, Leslie L. .

RADIATION RESEARCH, 2010, 174 (06) :840-850

[5] Mitochondria, oxidants, and aging [J].

Balaban, RS ;

Nemoto, S ;

Finkel, T .

CELL, 2005, 120 (04) :483-495

[6] Mutational signatures of ionizing radiation in second malignancies [J].

Behjati, Sam ;

Gundem, Gunes ;

Wedge, David C. ;

Roberts, Nicola D. ;

Tarpey, Patrick S. ;

Cooke, Susanna L. ;

Van Loo, Peter ;

Alexandrov, Ludmil B. ;

Ramakrishna, Manasa ;

Davies, Helen ;

Nik-Zainal, Serena ;

Hardy, Claire ;

Latimer, Calli ;

Raine, Keiran M. ;

Stebbings, Lucy ;

Menzies, Andy ;

Jones, David ;

Shepherd, Rebecca ;

Butler, Adam P. ;

Teague, Jon W. ;

Jorgensen, Mette ;

Khatri, Bhavisha ;

Pillay, Nischalan ;

Shlien, Adam ;

Futreal, P. Andrew ;

Badie, Christophe ;

McDermott, Ultan ;

Bova, G. Steven ;

Richardson, Andrea L. ;

Flanagan, Adrienne M. ;

Stratton, Michael R. ;

Campbell, Peter J. .

NATURE COMMUNICATIONS, 2016, 7

[7] MutationalPatterns: comprehensive genome-wide analysis of mutational processes [J].

Blokzijl, Francis ;

Janssen, Roel ;

van Boxtel, Ruben ;

Cuppen, Edwin .

GENOME MEDICINE, 2018, 10

[8] In-depth characterization of the cisplatin mutational signature in human cell lines and in esophageal and liver tumors [J].

Boot, Arnoud ;

Huang, Mi Ni ;

Ng, Alvin W. T. ;

Ho, Szu-Chi ;

Lim, Jing Quan ;

Kawakami, Yoshiiku ;

Chayama, Kazuaki ;

Teh, Bin Tean ;

Nakagawa, Hidewaki ;

Rozen, Steven G. .

GENOME RESEARCH, 2018, 28 (05) :654-665

[9] Pan-neuroblastoma analysis reveals age- and signature-associated driver alterations [J].

Brady, Samuel W. ;

Liu, Yanling ;

Ma, Xiaotu ;

Gout, Alexander M. ;

Hagiwara, Kohei ;

Zhou, Xin ;

Wang, Jian ;

Macias, Michael ;

Chen, Xiaolong ;

Easton, John ;

Mulder, Heather L. ;

Rusch, Michael ;

Wang, Lu ;

Nakitandwe, Joy ;

Lei, Shaohua ;

Davis, Eric M. ;

Naranjo, Arlene ;

Cheng, Cheng ;

Maris, John M. ;

Downing, James R. ;

Cheung, Nai-Kong V. ;

Hogarty, Michael D. ;

Dyer, Michael A. ;

Zhang, Jinghui .

NATURE COMMUNICATIONS, 2020, 11 (01)

[10] The Clonal Evolution of Metastatic Osteosarcoma as Shaped by Cisplatin Treatment [J].

Brady, Samuel W. ;

Ma, Xiaotu ;

Bahrami, Armita ;

Satas, Gryte ;

Wu, Gang ;

Newman, Scott ;

Rusch, Michael ;

Putnam, Daniel K. ;

Mulder, Heather L. ;

Yergeau, Donald A. ;

Edmonson, Michael N. ;

Easton, John ;

Alexandrov, Ludmil B. ;

Chen, Xiang ;

Mardis, Elaine R. ;

Wilson, Richard K. ;

Downing, James R. ;

Pappo, Alberto S. ;

Raphael, Benjamin J. ;

Dyer, Michael A. ;

Zhang, Jinghui .

MOLECULAR CANCER RESEARCH, 2019, 17 (04) :895-906

← 1 2 3 4 5 6 7 8 9 10 →