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

[11] APOBEC3A and APOBEC3B Activities Render Cancer Cells Susceptible to ATR Inhibition [J].

Buisson, Remi ;

Lawrence, Michael S. ;

Benes, Cyril H. ;

Zou, Lee .

CANCER RESEARCH, 2017, 77 (17) :4567-4578

[12] Pan-cancer analysis of whole genomes [J].

Campbell, Peter J. ;

Getz, Gad ;

Korbel, Jan O. ;

Stuart, Joshua M. ;

Jennings, Jennifer L. ;

Stein, Lincoln D. ;

Perry, Marc D. ;

Nahal-Bose, Hardeep K. ;

Ouellette, B. F. Francis ;

Li, Constance H. ;

Rheinbay, Esther ;

Nielsen, G. Petur ;

Sgroi, Dennis C. ;

Wu, Chin-Lee ;

Faquin, William C. ;

Deshpande, Vikram ;

Boutros, Paul C. ;

Lazar, Alexander J. ;

Hoadley, Katherine A. ;

Louis, David N. ;

Dursi, L. Jonathan ;

Yung, Christina K. ;

Bailey, Matthew H. ;

Saksena, Gordon ;

Raine, Keiran M. ;

Buchhalter, Ivo ;

Kleinheinz, Kortine ;

Schlesner, Matthias ;

Zhang, Junjun ;

Wang, Wenyi ;

Wheeler, David A. ;

Ding, Li ;

Simpson, Jared T. ;

O'Connor, Brian D. ;

Yakneen, Sergei ;

Ellrott, Kyle ;

Miyoshi, Naoki ;

Butler, Adam P. ;

Royo, Romina ;

Shorser, Solomon, I ;

Vazquez, Miguel ;

Rausch, Tobias ;

Tiao, Grace ;

Waszak, Sebastian M. ;

Rodriguez-Martin, Bernardo ;

Shringarpure, Suyash ;

Wu, Dai-Ying ;

Demidov, German M. ;

Delaneau, Olivier ;

Hayashi, Shuto .

NATURE, 2020, 578 (7793) :82-+

[13] WRN helicase is a synthetic lethal target in microsatellite unstable cancers [J].

Chan, Edmond M. ;

Shibue, Tsukasa ;

McFarland, James M. ;

Gaeta, Benjamin ;

Ghandi, Mahmoud ;

Dumont, Nancy ;

Gonzalez, Alfredo ;

McPartlan, Justine S. ;

Li, Tianxia ;

Zhang, Yanxi ;

Liu, Jie Bin ;

Lazaro, Jean-Bernard ;

Gu, Peili ;

Piett, Cortt G. ;

Apffel, Annie ;

Ali, Syed O. ;

Deasy, Rebecca ;

Keskula, Paula ;

Ng, Raymond W. S. ;

Roberts, Emma A. ;

Reznichenko, Elizaveta ;

Leung, Lisa ;

Alimova, Maria ;

Schenone, Monica ;

Islam, Mirazul ;

Maruvka, Yosef E. ;

Liu, Yang ;

Roper, Jatin ;

Raghavan, Srivatsan ;

Giannakis, Marios ;

Tseng, Yuen-Yi ;

Nagel, Zachary D. ;

D'Andrea, Alan ;

Root, David E. ;

Boehm, Jesse S. ;

Getz, Gad ;

Chang, Sandy ;

Golub, Todd R. ;

Tsherniak, Aviad ;

Vazquez, Francisca ;

Bass, Adam J. .

NATURE, 2019, 568 (7753) :551-+

[14] An APOBEC3A hypermutation signature is distinguishable from the signature of background mutagenesis by APOBEC3B in human cancers [J].

Chan, Kin ;

Roberts, Steven A. ;

Klimczak, Leszek J. ;

Sterling, Joan F. ;

Saini, Natalie ;

Malc, Ewa P. ;

Kim, Jaegil ;

Kwiatkowski, David J. ;

Fargo, David C. ;

Mieczkowski, Piotr A. ;

Getz, Gad ;

Gordenin, Dmitry A. .

NATURE GENETICS, 2015, 47 (09) :1067-+

[15] Targeting pan-essential genes in cancer: Challenges and opportunities [J].

Chang, Liang ;

Ruiz, Paloma ;

Ito, Takahiro ;

Sellers, William R. .

CANCER CELL, 2021, 39 (04) :466-479

[16] Homologous recombination DNA repair deficiency and PARP inhibition activity in primary triple negative breast cancer [J].

Chopra, Neha ;

Tovey, Holly ;

Pearson, Alex ;

Cutts, Ros ;

Toms, Christy ;

Proszek, Paula ;

Hubank, Michael ;

Dowsett, Mitch ;

Dodson, Andrew ;

Daley, Frances ;

Kriplani, Divya ;

Gevensleben, Heidi ;

Davies, Helen Ruth ;

Degasperi, Andrea ;

Roylance, Rebecca ;

Chan, Stephen ;

Tutt, Andrew ;

Skene, Anthony ;

Evans, Abigail ;

Bliss, Judith M. ;

Nik-Zainal, Serena ;

Turner, Nicholas C. .

NATURE COMMUNICATIONS, 2020, 11 (01)

[17] Catastrophic ATP loss underlies a metabolic combination therapy tailored for MYCN-amplified neuroblastoma [J].

Dalton, Krista M. ;

Lochmann, Timothy L. ;

Floros, Konstantinos, V ;

Calbert, Marissa L. ;

Kurupi, Richard ;

Stein, Giovanna T. ;

McClanaghan, Joseph ;

Murchie, Ellen ;

Egan, Regina K. ;

Greninger, Patricia ;

Dozmorov, Mikhail ;

Ramamoorthy, Sivapriya ;

Puchalapalli, Madhavi ;

Hu, Bin ;

Shock, Lisa ;

Koblinski, Jennifer ;

Glod, John ;

Boikos, Sosipatros A. ;

Benes, Cyril H. ;

Faber, Anthony C. .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2021, 118 (13)

[18] HRDetect is a predictor of BRCA1 and BRCA2 deficiency based on mutational signatures [J].

Davies, Helen ;

Glodzik, Dominik ;

Morganella, Sandro ;

Yates, Lucy R. ;

Staaf, Johan ;

Zou, Xueqing ;

Ramakrishna, Manasa ;

Martin, Sancha ;

Boyault, Sandrine ;

Sieuwerts, Anieta M. ;

Simpson, Peter T. ;

King, Tari A. ;

Raine, Keiran ;

Eyfjord, Jorunn E. ;

Kong, Gu ;

Borg, Ake ;

Birney, Ewan ;

Stunnenberg, Hendrik G. ;

van de Vijver, Marc J. ;

Borresen-Dale, Anne-Lise ;

Martens, John W. M. ;

Span, Paul N. ;

Lakhani, Sunil R. ;

Vincent-Salomon, Anne ;

Sotiriou, Christos ;

Tutt, Andrew ;

Thompson, Alastair M. ;

Van Laere, Steven ;

Richardson, Andrea L. ;

Viari, Alain ;

Campbell, Peter J. ;

Stratton, Michael R. ;

Nik-Zainal, Serena .

NATURE MEDICINE, 2017, 23 (04) :517-+

[19] SequencErr: measuring and suppressing sequencer errors in next-generation sequencing data [J].

Davis, Eric M. ;

Sun, Yu ;

Liu, Yanling ;

Kolekar, Pandurang ;

Shao, Ying ;

Szlachta, Karol ;

Mulder, Heather L. ;

Ren, Dongren ;

Rice, Stephen V. ;

Wang, Zhaoming ;

Nakitandwe, Joy ;

Gout, Alexander M. ;

Shaner, Bridget ;

Hall, Salina ;

Robison, Leslie L. ;

Pounds, Stanley ;

Klco, Jeffery M. ;

Easton, John ;

Ma, Xiaotu .

GENOME BIOLOGY, 2021, 22 (01)

[20] Prognostic value, localization and correlation of PD-1/PD-L1, CD8 and FOXP3 with the desmoplastic stroma in pancreatic ductal adenocarcinoma [J].

Diana, Angela ;

Wang, Lai Mun ;

D'Costa, Zenobia ;

Allen, Paul ;

Azad, Abul ;

Silva, Michael A. ;

Soonawalla, Zahir ;

Liu, Stanley ;

McKenna, W. Gillies ;

Muschel, Ruth J. ;

Fokas, Emmanouil .

ONCOTARGET, 2016, 7 (27) :40992-41004

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