scholarly journals Genomic profiling of the UFMylation family genes identifies UFSP2 as a potential tumour suppressor in colon cancer

2021 ◽  
Vol 11 (12) ◽  
Author(s):  
Junzhi Zhou ◽  
Xiaohe Ma ◽  
Lu Xu ◽  
Qian Liang ◽  
Jian Mao ◽  
...  
2006 ◽  
Vol 95 (10) ◽  
pp. 1419-1423 ◽  
Author(s):  
C Rimkus ◽  
M Martini ◽  
J Friederichs ◽  
R Rosenberg ◽  
D Doll ◽  
...  

2018 ◽  
Vol 36 (4_suppl) ◽  
pp. 569-569 ◽  
Author(s):  
Jeffrey P. Gregg ◽  
Gerald Li ◽  
Dean Pavlick ◽  
Jon Chung ◽  
Matthew Cooke ◽  
...  

569 Background: The liquid biopsy offers the ability to non-invasively analyze the genome of a tumor through circulating tumor (ct) DNA to identify targetable and prognostic genomic alterations. Few studies have rigorously analyzed ctDNA results and determined the fidelity with which they recapitulate the genomics of the tumor. The clinical utility study (CUS) for FoundationACT (Foundation Medicine, Cambridge, MA; NCT02620527) is a large multi-center prospective clinical study to validate this ctDNA assay for multiple solid tumor types. In this subset of the CUS study, paired specimens from 98 patients with colon cancer were analyzed with comprehensive genomic profiling of the tumor (FoundationOne) and a blood sample (FoundationACT). Methods: Maximum somatic allele fraction (MSAF) was used to estimate the fraction of ctDNA in the sample. The set of genes and targeted regions common to both FoundationOne and FoundationACT were compared for each subject. Results: 60% were male; 73 had stage IV, 17 had stage III, and 8 had stage II disease. 16% of cases had an MSAF value of 0, indicating that no ctDNA were in these samples. For the cases with MSAF > 0, 153 insertion/deletions (indels)/substitutions were identified in the tumor, and 73% of these identical alterations were also identified in the ctDNA samples. As robust analytical performance for FoundationACT has been demonstrated at MSAF > 0.5% for indel/subs, further analysis was conducted using this threshold. 83% of the alterations identified with FoundationOne were identified with FoundationACT. Further, 90% of NRAS/KRAS and 75% BRAF alterations (NCCN guideline genes) were concordant between the two assays. Lastly, there were 11 patients with tumor biopsy and blood draw taken within 30 days of each other, and in these there was 100% concordant. Association of the genomics results with other clinical variables will be presented for the available subset of patients. Conclusions: In cases where tumor profiling is not possible, these results provide compelling evidence that comprehensive molecular profiling of ctDNA in colon cancer can be used to identify most clinically relevant alterations and has fidelity to the genomics of the tumor. Clinical trial information: NCT02620527.


Oncogene ◽  
2014 ◽  
Vol 34 (32) ◽  
pp. 4168-4176 ◽  
Author(s):  
F Neri ◽  
D Dettori ◽  
D Incarnato ◽  
A Krepelova ◽  
S Rapelli ◽  
...  

Oncotarget ◽  
2018 ◽  
Vol 9 (67) ◽  
pp. 32822-32840 ◽  
Author(s):  
Christian Gerecke ◽  
Fabian Schumacher ◽  
Alexander Edlich ◽  
Alexandra Wetzel ◽  
Guy Yealland ◽  
...  

2019 ◽  
Vol 37 (15_suppl) ◽  
pp. e18381-e18381
Author(s):  
Yiqing Xu ◽  
Jiang Yio ◽  
Amber Yang ◽  
Ashrei Bayewitz ◽  
Daniel Benasher ◽  
...  

e18381 Background: Next-generation sequencing (NGS), which enables tumor genomic profiling with limited tumor specimen for the guidance of targeted therapy, has been widely used in oncology practice. It also reports mutations of which no approved therapy is available, but potential therapies approved in a different tumor type may be reasonable to try, based on molecular mechanisms or limited data, either in clinical trials or off trial treatment. The utility of this information in the community practice is unclear. Methods: We performed a retrospective analysis on the usage of NGS result on patients with lung or colorectal cancers treated between November 2011 and February 2018. Patients were identified from Foundation Medicine Company database and were linked to records at Maimonides. We evaluated if NGS was used to guide FDA-approved targeted therapy, potentially-useful targeted therapy not approved for the cancer type, or referral to a clinical trial. Results: 177 patients (lung ca = 119, colon ca = 58) were included. NGS identified 34 (28.6%) lung ca patients with driver mutations, (21 EGFR, 6 RET, 3 ALK, 2 MET amplification, 1 ROS1 and 1NTRK mutation), who were all given FDA-approved therapy. 70 (58.8%) patients had at least 1 target with an FDA-approved therapy for a different cancer; 89 (74.9%) had a mutation being studied in a clinical trial, and 48 patients were eligible for the NCI-MATCH trial. None received non-FDA-approved drugs and none was referred to clinical trials. In the colon cancer cohort, NGS identified alterations in KRAS (27), BRAF (5), ERBB2 mutation (2), ERBB2 amplification (1), MLH1 (1), MSH2 (1) and BRCA 2(1). Among them, one patient received BRAF inhibitors. 45 and 24 patients were eligible for phase I/II trials and NCI-MATCH trial respectively, and none was referred. Conclusions: NGS has a high efficiency of detecting driver mutations in lung cancer; but only reveals low frequencies of alterations otherwise not tested in colon cancer. The approach of prescribing un-approved targeted treatment based on theoretical mechanism of action was very uncommon, and the referral to clinical trials was rare in this community practice, both of which decreasing the utility value of NGS.


1998 ◽  
Vol 433 (5) ◽  
pp. 415-418 ◽  
Author(s):  
Tetsuji Tokunaga ◽  
M. Nakamura ◽  
Yoshiro Oshika ◽  
Takashi Tsuchida ◽  
Michitake Kazuno ◽  
...  

2020 ◽  
Vol 24 (15) ◽  
pp. 8391-8404
Author(s):  
Xiao‐Shen Cheng ◽  
Ya‐Ni Huo ◽  
Yan‐Yun Fan ◽  
Chuan‐Xing Xiao ◽  
Xiao‐Mei Ouyang ◽  
...  

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