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Improving the value of molecular testing: current status and opportunities in colorectal cancer precision medicine

Show Author's information Haiyun Li1,2,*Linwei Guo1,2,*Chenchen Wang3Xin Hu2,4 ( )Ye Xu1,2 ( )
Department of Colorectal Surgery, Fudan University Shanghai Cancer Center, Shanghai 200032, China
Department of Oncology, Shanghai Medical College, Fudan University, Shanghai 200032, China
Department of Gastrointestinal Medical Oncology, Fudan University Shanghai Cancer Center, Shanghai 200032, China
Precision Cancer Medical Center Affiliated with Fudan University Shanghai Cancer Center, Shanghai 201315, China

*These authors contributed equally to this work.



Lang GT, Jiang YZ, Shi JX, Yang F, Li XG, Pei YC, et al. Characterization of the genomic landscape and actionable mutations in Chinese breast cancers by clinical sequencing. Nat Commun. 2020; 11: 5679.


Biller LH, Schrag D. Diagnosis and treatment of metastatic colorectal cancer: a review. JAMA. 2021; 325: 669-85.


Van Cutsem E, Köhne CH, Hitre E, Zaluski J, Chang Chien CR, Makhson A, et al. Cetuximab and chemotherapy as initial treatment for metastatic colorectal cancer. N Engl J Med. 2009; 360: 1408-17.


Benson AB, Venook AP, Al-Hawary MM, Azad N, Chen YJ, Ciombor KK, et al. Rectal cancer, version 2.2022, NCCN clinical practice guidelines in oncology. J Natl Compr Canc Netw. 2022; 20: 1139-67.


Cervantes A, Adam R, Roselló S, Arnold D, Normanno N, Taïeb J, et al. Metastatic colorectal cancer: ESMO clinical practice guideline for diagnosis, treatment and follow-up. Ann Oncol. 2023; 34: 10-32.


Yuan Z, Weng S, Ye C, Hu H, Zhang S, Yuan Y. CSCO guidelines for colorectal cancer version 2022: updates and discussions. Chin J Cancer Res. 2022; 34: 67-70.


Guo L, Wang Y, Yang W, Wang C, Guo T, Yang J, et al. Molecular profiling provides clinical insights into targeted and immunotherapies as well as colorectal cancer prognosis. Gastroenterology. 2023; 165: 414-28.


Datta J, Smith JJ, Chatila WK, McAuliffe JC, Kandoth C, Vakiani E, et al. Coaltered Ras/B-raf and TP53 is associated with extremes of survivorship and distinct patterns of metastasis in patients with metastatic colorectal cancer. Clin Cancer Res. 2020; 26: 1077-85.


Janssen KP, Alberici P, Fsihi H, Gaspar C, Breukel C, Franken P, et al. APC and oncogenic KRAS are synergistic in enhancing Wnt signaling in intestinal tumor formation and progression. Gastroenterology. 2006; 131: 1096-109.


Sparks AB, Morin PJ, Vogelstein B, Kinzler KW. Mutational analysis of the APC/beta-catenin/Tcf pathway in colorectal cancer. Cancer Res. 1998; 58: 1130-4.


Cisowski J, Sayin VI, Liu M, Karlsson C, Bergo MO. Oncogene-induced senescence underlies the mutual exclusive nature of oncogenic KRAS and BRAF. Oncogene. 2016; 35: 1328-33.


Antoniotti C, Boccaccino A, Seitz R, Giordano M, Catteau A, Rossini D, et al. An immune-related gene expression signature predicts benefit from adding atezolizumab to FOLFOXIRI plus bevacizumab in metastatic colorectal cancer. Clin Cancer Res. 2023; 29: 2291-8.


Ratovomanana T, Nicolle R, Cohen R, Diehl A, Siret A, Letourneur Q, et al. Prediction of response to immune checkpoint blockade in patients with metastatic colorectal cancer with microsatellite instability. Ann Oncol. 2023; 34: 703-13.


Turajlic S, Litchfield K, Xu H, Rosenthal R, McGranahan N, Reading JL, et al. Insertion-and-deletion-derived tumour-specific neoantigens and the immunogenic phenotype: a pan-cancer analysis. Lancet Oncol. 2017; 18: 1009-21.


Maby P, Galon J, Latouche JB. Frameshift mutations, neoantigens and tumor-specific CD8(+) T cells in microsatellite unstable colorectal cancers. Oncoimmunology. 2016; 5: e1115943.


Loupakis F, Depetris I, Biason P, Intini R, Prete AA, Leone F, et al. Prediction of benefit from checkpoint inhibitors in mismatch repair deficient metastatic colorectal cancer: role of tumor infiltrating lymphocytes. Oncologist. 2020; 25: 481-7.


Middha S, Yaeger R, Shia J, Stadler ZK, King S, Guercio S, et al. Majority of B2M-mutant and -deficient colorectal carcinomas achieve clinical benefit from immune checkpoint inhibitor therapy and are microsatellite instability-high. JCO Precis Oncol. 2019; 3: PO.18.00321.


Crisafulli G, Sartore-Bianchi A, Lazzari L, Pietrantonio F, Amatu A, Macagno M, et al. Temozolomide treatment alters mismatch repair and boosts mutational burden in tumor and blood of colorectal cancer patients. Cancer Discov. 2022; 12: 1656-75.


Liu YT, Sun ZJ. Turning cold tumors into hot tumors by improving T-cell infiltration. Theranostics. 2021; 11: 5365-86.


Magee MS, Abraham TS, Baybutt TR, Flickinger JC Jr, Ridge NA, Marszalowicz GP, et al. Human GUCY2C-targeted chimeric antigen receptor (CAR)-expressing T cells eliminate colorectal cancer metastases. Cancer Immunol Res. 2018; 6: 509-16.

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Publication history

Received: 05 August 2023
Accepted: 06 November 2023
Published: 30 November 2023
Issue date: January 2024


©2024 Cancer Biology & Medicine.

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