Twenty-First Century Precision Medicine in Oncology: Genomic Profiling in Patients With Cancer

被引：23

作者：

Borad, Mitesh J. ^{[1
,2
,3
,4
]}

LoRusso, Patricia M. ^{[5
]}

机构：

[1] Mayo Clin, Div Hematol & Oncol, 13400 E Shea Blvd, Scottsdale, AZ 85259 USA

[2] Mayo Clin, Comprehens Canc Ctr, Scottsdale, AZ 85259 USA

[3] Mayo Clin, Dept Mol Med, Rochester, MN USA

[4] Mayo Clin, Ctr Individualized Med, Rochester, MN USA

[5] Yale Sch Med, Yale Canc Ctr, New Haven, CT USA

来源：

MAYO CLINIC PROCEEDINGS | 2017年 / 92卷 / 10期

关键词：

INCIDENTAL FINDINGS; BREAST-CANCER; SOLID TUMORS; OPEN-LABEL; VALIDATION; THERAPY; FEASIBILITY; MULTICENTER; GENES; EXOME;

D O I：

10.1016/j.mayocp.2017.08.002

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

The advent of next-generation sequencing has accelerated the implementation of genomic profiling in the care and management of patients with cancer. Initial efforts have focused on target identification in patients with advanced cancer. Prognostication, resistance detection, disease monitoring, and early detection efforts are also underway. This review highlights some of the challenges in this evolving space. This includes choosing between gene-panel and comprehensive approaches, DNA and transcriptome data integration, reduction of false-positive variants, addressing tumor heterogeneity, establishment of workflows to address unsolicited findings, and data sharing and privacy concerns. (C) 2017 Mayo Foundation for Medical Education and Research

引用

页码：1583 / 1591

页数：9

共 38 条

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Aelion, C. Marjorie ;

Airhihenbuwa, Collins O. ;

Alemagno, Sonia ;

Amler, Robert W. ;

Arnett, Donna K. ;

Balas, Andrew ;

Bertozzi, Stefano ;

Blakely, Craig H. ;

Boerwinkle, Eric ;

Brandt-Rauf, Paul ;

Buekens, Pierre M. ;

Chandler, G. Thomas ;

Chang, Rowland W. ;

Clark, Jane E. ;

Cleary, Paul D. ;

Curran, James W. ;

Curry, Susan J. ;

Roux, Ana V. Diez ;

Dittus, Robert ;

Ellerbeck, Edward F. ;

El-Mohandes, Ayman ;

Eriksen, Michael P. ;

Erwin, Paul C. ;

Evans, Gregory ;

Finnegan, John R., Jr. ;

Fried, Linda P. ;

Frumkin, Howard ;

Galea, Sandro ;

Goff, David C., Jr. ;

Goldman, Lynn R. ;

Guilarte, Tomas R. ;

Rivera-Gutierrez, Ralph ;

Halverson, Paul K. ;

Hand, Gregory A. ;

Harris, Cynthia M. ;

Healton, Cheryl G. ;

Hennig, Nils ;

Heymann, Jody ;

Hunter, David ;

Hwang, Wenke ;

Jones, Resa M. ;

Klag, Michael J. ;

Klesges, Lisa M. ;

Lahey, Tim ;

Lawlor, Edward F. ;

Maddock, Jay ;

Martin, William J. ;

Mazzaschi, Anthony J. ;

Michael, Max ;

Mohammed, Shan D. .

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Beltran, Himisha ;

Eng, Kenneth ;

Mosquera, Juan Miguel ;

Sigaras, Alexandros ;

Romanel, Alessandro ;

Rennert, Hanna ;

Kossai, Myriam ;

Pauli, Chantal ;

Faltas, Bishoy ;

Fontugne, Jacqueline ;

Park, Kyung ;

Banfelder, Jason ;

Prandi, Davide ;

Madhukar, Neel ;

Zhang, Tuo ;

Padilla, Jessica ;

Greco, Noah ;

McNary, Terra J. ;

Herrscher, Erick ;

Wilkes, David ;

MacDonald, Theresa Y. ;

Xue, Hui ;

Vacic, Vladimir ;

Emde, Anne-Katrin ;

Oschwald, Dayna ;

Tan, Adrian Y. ;

Chen, Zhengming ;

Collins, Colin ;

Gleave, Martin E. ;

Wang, Yuzhuo ;

Chakravarty, Dimple ;

Schiffman, Marc ;

Kim, Robert ;

Campagne, Fabien ;

Robinson, Brian D. ;

Nanus, David M. ;

Tagawa, Scott T. ;

Xiang, Jenny Z. ;

Smogorzewska, Agata ;

Demichelis, Francesca ;

Rickman, David S. ;

Sboner, Andrea ;

Elemento, Olivier ;

Rubin, Mark A. .

JAMA ONCOLOGY, 2015, 1 (04) :466-474

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[4] Detection of Circulating Tumor DNA in Early- and Late-Stage Human Malignancies [J].

Bettegowda, Chetan ;

Sausen, Mark ;

Leary, Rebecca J. ;

Kinde, Isaac ;

Wang, Yuxuan ;

Agrawal, Nishant ;

Bartlett, Bjarne R. ;

Wang, Hao ;

Luber, Brandon ;

Alani, Rhoda M. ;

Antonarakis, Emmanuel S. ;

Azad, Nilofer S. ;

Bardelli, Alberto ;

Brem, Henry ;

Cameron, John L. ;

Lee, Clarence C. ;

Fecher, Leslie A. ;

Gallia, Gary L. ;

Gibbs, Peter ;

Le, Dung ;

Giuntoli, Robert L. ;

Goggins, Michael ;

Hogarty, Michael D. ;

Holdhoff, Matthias ;

Hong, Seung-Mo ;

Jiao, Yuchen ;

Juhl, Hartmut H. ;

Kim, Jenny J. ;

Siravegna, Giulia ;

Laheru, Daniel A. ;

Lauricella, Calogero ;

Lim, Michael ;

Lipson, Evan J. ;

Marie, Suely Kazue Nagahashi ;

Netto, George J. ;

Oliner, Kelly S. ;

Olivi, Alessandro ;

Olsson, Louise ;

Riggins, Gregory J. ;

Sartore-Bianchi, Andrea ;

Schmidt, Kerstin ;

Shih, Ie-Ming ;

Oba-Shinjo, Sueli Mieko ;

Siena, Salvatore ;

Theodorescu, Dan ;

Tie, Jeanne ;

Harkins, Timothy T. ;

Veronese, Silvio ;

Wang, Tian-Li ;

Weingart, Jon D. .

SCIENCE TRANSLATIONAL MEDICINE, 2014, 6 (224)

[5] Clinical Implementation of Integrated Genomic Profiling in Patients with Advanced Cancers [J].

Borad, Mitesh J. ;

Egan, Jan B. ;

Condjella, Rachel M. ;

Liang, Winnie S. ;

Fonseca, Rafael ;

Ritacca, Nicole R. ;

McCullough, Ann E. ;

Barrett, Michael T. ;

Hunt, Katherine S. ;

Champion, Mia D. ;

Patel, Maitray D. ;

Young, Scott W. ;

Silva, Alvin C. ;

Ho, Thai H. ;

Halfdanarson, Thorvardur R. ;

McWilliams, Robert R. ;

Lazaridis, Konstantinos N. ;

Ramanathan, Ramesh K. ;

Baker, Angela ;

Aldrich, Jessica ;

Kurdoglu, Ahmet ;

Izatt, Tyler ;

Christoforides, Alexis ;

Cherni, Irene ;

Nasser, Sara ;

Reiman, Rebecca ;

Cuyugan, Lori ;

McDonald, Jacquelyn ;

Adkins, Jonathan ;

Mastrian, Stephen D. ;

Valdez, Riccardo ;

Jaroszewski, Dawn E. ;

Von Hoff, Daniel D. ;

Craig, David W. ;

Stewart, A. Keith ;

Carpten, John D. ;

Bryce, Alan H. .

SCIENTIFIC REPORTS, 2016, 6

[6] Integrated Genomic Characterization Reveals Novel, Therapeutically Relevant Drug Targets in FGFR and EGFR Pathways in Sporadic Intrahepatic Cholangiocarcinoma [J].

Borad, Mitesh J. ;

Champion, Mia D. ;

Egan, Jan B. ;

Liang, Winnie S. ;

Fonseca, Rafael ;

Bryce, Alan H. ;

McCullough, Ann E. ;

Barrett, Michael T. ;

Hunt, Katherine ;

Patel, Maitray D. ;

Young, Scott W. ;

Collins, Joseph M. ;

Silva, Alvin C. ;

Condjella, Rachel M. ;

Block, Matthew ;

McWilliams, Robert R. ;

Lazaridis, Konstantinos N. ;

Klee, Eric W. ;

Bible, Keith C. ;

Harris, Pamela ;

Oliver, Gavin R. ;

Bhavsar, Jaysheel D. ;

Nair, Asha A. ;

Middha, Sumit ;

Asmann, Yan ;

Kocher, Jean-Pierre ;

Schahl, Kimberly ;

Kipp, Benjamin R. ;

Fritcher, Emily G. Barr ;

Baker, Angela ;

Aldrich, Jessica ;

Kurdoglu, Ahmet ;

Izatt, Tyler ;

Christoforides, Alexis ;

Cherni, Irene ;

Nasser, Sara ;

Reiman, Rebecca ;

Phillips, Lori ;

McDonald, Jackie ;

Adkins, Jonathan ;

Mastrian, Stephen D. ;

Placek, Pamela ;

Watanabe, Aprill T. ;

LoBello, Janine ;

Han, Haiyong ;

Von Hoff, Daniel ;

Craig, David W. ;

Stewart, A. Keith ;

Carpten, John D. .

PLOS GENETICS, 2014, 10 (02)

[7] Tumor genome analysis includes germline genome: Are we ready for surprises? [J].

Catenacci, Daniel V. T. ;

Amico, Andrea L. ;

Nielsen, Sarah M. ;

Geynisman, Daniel M. ;

Rambo, Brittany ;

Carey, George B. ;

Gulden, Cassandra ;

Fackenthal, Jim ;

Marsh, Robert D. ;

Kindler, Hedy L. ;

Olopade, Olufunmilayo I. .

INTERNATIONAL JOURNAL OF CANCER, 2015, 136 (07) :1559-1567

[8] Validation of a Next-Generation Sequencing Assay for Clinical Molecular Oncology [J].

Cottrell, Catherine E. ;

Al-Kateb, Hussam ;

Bredemeyer, Andrew J. ;

Duncavage, Eric J. ;

Spencer, David H. ;

Abel, Haley J. ;

Lockwood, Christina M. ;

Hagemann, Ian S. ;

O'Guin, Stephanie M. ;

Burcea, Lauren C. ;

Sawyer, Christopher S. ;

Oschwald, Dayna M. ;

Stratman, Jennifer L. ;

Sher, Done A. ;

Johnson, Mark R. ;

Brown, Justin T. ;

Cliften, Paul F. ;

George, Bijoy ;

McIntosh, Leslie D. ;

Shrivastava, Savita ;

Nguyen, TuDung T. ;

Payton, Jacqueline E. ;

Watson, Mark A. ;

Crosby, Seth D. ;

Head, Richard D. ;

Mitra, Robi D. ;

Nagarajan, Rakesh ;

Kulkarni, Shashikant ;

Seibert, Karen ;

Virgin, Herbert W. ;

Milbrandt, Jeffrey ;

Pfeifer, John D. .

JOURNAL OF MOLECULAR DIAGNOSTICS, 2014, 16 (01) :89-105

[9] Genome and Transcriptome Sequencing in Prospective Metastatic Triple-Negative Breast Cancer Uncovers Therapeutic Vulnerabilities [J].

Craig, David W. ;

O'Shaughnessy, Joyce A. ;

Kiefer, Jeffrey A. ;

Aldrich, Jessica ;

Sinari, Shripad ;

Moses, Tracy M. ;

Wong, Shukmei ;

Dinh, Jennifer ;

Christoforides, Alexis ;

Blum, Joanne L. ;

Aitelli, Cristi L. ;

Osborne, Cynthia R. ;

Izatt, Tyler ;

Kurdoglu, Ahmet ;

Baker, Angela ;

Koeman, Julie ;

Barbacioru, Catalin ;

Sakarya, Onur ;

De La Vega, Francisco M. ;

Siddiqui, Asim ;

Hoang, Linh ;

Billings, Paul R. ;

Salhia, Bodour ;

Tolcher, Anthony W. ;

Trent, Jeffrey M. ;

Mousses, Spyro ;

Von Hoff, Daniel ;

Carpten, John D. .

MOLECULAR CANCER THERAPEUTICS, 2013, 12 (01) :104-116

[10] Liquid Biopsies: Genotyping Circulating Tumor DNA [J].

Diaz, Luis A. ;

Bardelli, Alberto .

JOURNAL OF CLINICAL ONCOLOGY, 2014, 32 (06) :579-+

← 1 2 3 4 →

共 38 条

[1] The US Cancer Moonshot initiative [J].

Aelion, C. Marjorie ;

Airhihenbuwa, Collins O. ;

Alemagno, Sonia ;

Amler, Robert W. ;

Arnett, Donna K. ;

Balas, Andrew ;

Bertozzi, Stefano ;

Blakely, Craig H. ;

Boerwinkle, Eric ;

Brandt-Rauf, Paul ;

Buekens, Pierre M. ;

Chandler, G. Thomas ;

Chang, Rowland W. ;

Clark, Jane E. ;

Cleary, Paul D. ;

Curran, James W. ;

Curry, Susan J. ;

Roux, Ana V. Diez ;

Dittus, Robert ;

Ellerbeck, Edward F. ;

El-Mohandes, Ayman ;

Eriksen, Michael P. ;

Erwin, Paul C. ;

Evans, Gregory ;

Finnegan, John R., Jr. ;

Fried, Linda P. ;

Frumkin, Howard ;

Galea, Sandro ;

Goff, David C., Jr. ;

Goldman, Lynn R. ;

Guilarte, Tomas R. ;

Rivera-Gutierrez, Ralph ;

Halverson, Paul K. ;

Hand, Gregory A. ;

Harris, Cynthia M. ;

Healton, Cheryl G. ;

Hennig, Nils ;

Heymann, Jody ;

Hunter, David ;

Hwang, Wenke ;

Jones, Resa M. ;

Klag, Michael J. ;

Klesges, Lisa M. ;

Lahey, Tim ;

Lawlor, Edward F. ;

Maddock, Jay ;

Martin, William J. ;

Mazzaschi, Anthony J. ;

Michael, Max ;

Mohammed, Shan D. .

LANCET ONCOLOGY, 2016, 17 (05) :E178-E180

[2] Whole-Exome Sequencing of Metastatic Cancer and Biomarkers of Treatment Response [J].

Beltran, Himisha ;

Eng, Kenneth ;

Mosquera, Juan Miguel ;

Sigaras, Alexandros ;

Romanel, Alessandro ;

Rennert, Hanna ;

Kossai, Myriam ;

Pauli, Chantal ;

Faltas, Bishoy ;

Fontugne, Jacqueline ;

Park, Kyung ;

Banfelder, Jason ;

Prandi, Davide ;

Madhukar, Neel ;

Zhang, Tuo ;

Padilla, Jessica ;

Greco, Noah ;

McNary, Terra J. ;

Herrscher, Erick ;

Wilkes, David ;

MacDonald, Theresa Y. ;

Xue, Hui ;

Vacic, Vladimir ;

Emde, Anne-Katrin ;

Oschwald, Dayna ;

Tan, Adrian Y. ;

Chen, Zhengming ;

Collins, Colin ;

Gleave, Martin E. ;

Wang, Yuzhuo ;

Chakravarty, Dimple ;

Schiffman, Marc ;

Kim, Robert ;

Campagne, Fabien ;

Robinson, Brian D. ;

Nanus, David M. ;

Tagawa, Scott T. ;

Xiang, Jenny Z. ;

Smogorzewska, Agata ;

Demichelis, Francesca ;

Rickman, David S. ;

Sboner, Andrea ;

Elemento, Olivier ;

Rubin, Mark A. .

JAMA ONCOLOGY, 2015, 1 (04) :466-474

[3]

Berg JS, 2013, GENET MED, V15, P860, DOI 10.1038/gim.2013.133

[4] Detection of Circulating Tumor DNA in Early- and Late-Stage Human Malignancies [J].

Bettegowda, Chetan ;

Sausen, Mark ;

Leary, Rebecca J. ;

Kinde, Isaac ;

Wang, Yuxuan ;

Agrawal, Nishant ;

Bartlett, Bjarne R. ;

Wang, Hao ;

Luber, Brandon ;

Alani, Rhoda M. ;

Antonarakis, Emmanuel S. ;

Azad, Nilofer S. ;

Bardelli, Alberto ;

Brem, Henry ;

Cameron, John L. ;

Lee, Clarence C. ;

Fecher, Leslie A. ;

Gallia, Gary L. ;

Gibbs, Peter ;

Le, Dung ;

Giuntoli, Robert L. ;

Goggins, Michael ;

Hogarty, Michael D. ;

Holdhoff, Matthias ;

Hong, Seung-Mo ;

Jiao, Yuchen ;

Juhl, Hartmut H. ;

Kim, Jenny J. ;

Siravegna, Giulia ;

Laheru, Daniel A. ;

Lauricella, Calogero ;

Lim, Michael ;

Lipson, Evan J. ;

Marie, Suely Kazue Nagahashi ;

Netto, George J. ;

Oliner, Kelly S. ;

Olivi, Alessandro ;

Olsson, Louise ;

Riggins, Gregory J. ;

Sartore-Bianchi, Andrea ;

Schmidt, Kerstin ;

Shih, Ie-Ming ;

Oba-Shinjo, Sueli Mieko ;

Siena, Salvatore ;

Theodorescu, Dan ;

Tie, Jeanne ;

Harkins, Timothy T. ;

Veronese, Silvio ;

Wang, Tian-Li ;

Weingart, Jon D. .

SCIENCE TRANSLATIONAL MEDICINE, 2014, 6 (224)

[5] Clinical Implementation of Integrated Genomic Profiling in Patients with Advanced Cancers [J].

Borad, Mitesh J. ;

Egan, Jan B. ;

Condjella, Rachel M. ;

Liang, Winnie S. ;

Fonseca, Rafael ;

Ritacca, Nicole R. ;

McCullough, Ann E. ;

Barrett, Michael T. ;

Hunt, Katherine S. ;

Champion, Mia D. ;

Patel, Maitray D. ;

Young, Scott W. ;

Silva, Alvin C. ;

Ho, Thai H. ;

Halfdanarson, Thorvardur R. ;

McWilliams, Robert R. ;

Lazaridis, Konstantinos N. ;

Ramanathan, Ramesh K. ;

Baker, Angela ;

Aldrich, Jessica ;

Kurdoglu, Ahmet ;

Izatt, Tyler ;

Christoforides, Alexis ;

Cherni, Irene ;

Nasser, Sara ;

Reiman, Rebecca ;

Cuyugan, Lori ;

McDonald, Jacquelyn ;

Adkins, Jonathan ;

Mastrian, Stephen D. ;

Valdez, Riccardo ;

Jaroszewski, Dawn E. ;

Von Hoff, Daniel D. ;

Craig, David W. ;

Stewart, A. Keith ;

Carpten, John D. ;

Bryce, Alan H. .

SCIENTIFIC REPORTS, 2016, 6

[6] Integrated Genomic Characterization Reveals Novel, Therapeutically Relevant Drug Targets in FGFR and EGFR Pathways in Sporadic Intrahepatic Cholangiocarcinoma [J].

Borad, Mitesh J. ;

Champion, Mia D. ;

Egan, Jan B. ;

Liang, Winnie S. ;

Fonseca, Rafael ;

Bryce, Alan H. ;

McCullough, Ann E. ;

Barrett, Michael T. ;

Hunt, Katherine ;

Patel, Maitray D. ;

Young, Scott W. ;

Collins, Joseph M. ;

Silva, Alvin C. ;

Condjella, Rachel M. ;

Block, Matthew ;

McWilliams, Robert R. ;

Lazaridis, Konstantinos N. ;

Klee, Eric W. ;

Bible, Keith C. ;

Harris, Pamela ;

Oliver, Gavin R. ;

Bhavsar, Jaysheel D. ;

Nair, Asha A. ;

Middha, Sumit ;

Asmann, Yan ;

Kocher, Jean-Pierre ;

Schahl, Kimberly ;

Kipp, Benjamin R. ;

Fritcher, Emily G. Barr ;

Baker, Angela ;

Aldrich, Jessica ;

Kurdoglu, Ahmet ;

Izatt, Tyler ;

Christoforides, Alexis ;

Cherni, Irene ;

Nasser, Sara ;

Reiman, Rebecca ;

Phillips, Lori ;

McDonald, Jackie ;

Adkins, Jonathan ;

Mastrian, Stephen D. ;

Placek, Pamela ;

Watanabe, Aprill T. ;

LoBello, Janine ;

Han, Haiyong ;

Von Hoff, Daniel ;

Craig, David W. ;

Stewart, A. Keith ;

Carpten, John D. .

PLOS GENETICS, 2014, 10 (02)

[7] Tumor genome analysis includes germline genome: Are we ready for surprises? [J].

Catenacci, Daniel V. T. ;

Amico, Andrea L. ;

Nielsen, Sarah M. ;

Geynisman, Daniel M. ;

Rambo, Brittany ;

Carey, George B. ;

Gulden, Cassandra ;

Fackenthal, Jim ;

Marsh, Robert D. ;

Kindler, Hedy L. ;

Olopade, Olufunmilayo I. .

INTERNATIONAL JOURNAL OF CANCER, 2015, 136 (07) :1559-1567

[8] Validation of a Next-Generation Sequencing Assay for Clinical Molecular Oncology [J].

Cottrell, Catherine E. ;

Al-Kateb, Hussam ;

Bredemeyer, Andrew J. ;

Duncavage, Eric J. ;

Spencer, David H. ;

Abel, Haley J. ;

Lockwood, Christina M. ;

Hagemann, Ian S. ;

O'Guin, Stephanie M. ;

Burcea, Lauren C. ;

Sawyer, Christopher S. ;

Oschwald, Dayna M. ;

Stratman, Jennifer L. ;

Sher, Done A. ;

Johnson, Mark R. ;

Brown, Justin T. ;

Cliften, Paul F. ;

George, Bijoy ;

McIntosh, Leslie D. ;

Shrivastava, Savita ;

Nguyen, TuDung T. ;

Payton, Jacqueline E. ;

Watson, Mark A. ;

Crosby, Seth D. ;

Head, Richard D. ;

Mitra, Robi D. ;

Nagarajan, Rakesh ;

Kulkarni, Shashikant ;

Seibert, Karen ;

Virgin, Herbert W. ;

Milbrandt, Jeffrey ;

Pfeifer, John D. .

JOURNAL OF MOLECULAR DIAGNOSTICS, 2014, 16 (01) :89-105

[9] Genome and Transcriptome Sequencing in Prospective Metastatic Triple-Negative Breast Cancer Uncovers Therapeutic Vulnerabilities [J].

Craig, David W. ;

O'Shaughnessy, Joyce A. ;

Kiefer, Jeffrey A. ;

Aldrich, Jessica ;

Sinari, Shripad ;

Moses, Tracy M. ;

Wong, Shukmei ;

Dinh, Jennifer ;

Christoforides, Alexis ;

Blum, Joanne L. ;

Aitelli, Cristi L. ;

Osborne, Cynthia R. ;

Izatt, Tyler ;

Kurdoglu, Ahmet ;

Baker, Angela ;

Koeman, Julie ;

Barbacioru, Catalin ;

Sakarya, Onur ;

De La Vega, Francisco M. ;

Siddiqui, Asim ;

Hoang, Linh ;

Billings, Paul R. ;

Salhia, Bodour ;

Tolcher, Anthony W. ;

Trent, Jeffrey M. ;

Mousses, Spyro ;

Von Hoff, Daniel ;

Carpten, John D. .

MOLECULAR CANCER THERAPEUTICS, 2013, 12 (01) :104-116

[10] Liquid Biopsies: Genotyping Circulating Tumor DNA [J].

Diaz, Luis A. ;

Bardelli, Alberto .

JOURNAL OF CLINICAL ONCOLOGY, 2014, 32 (06) :579-+

← 1 2 3 4 →