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Assasi N, Blackhouse G, Campbell K, et al. DNA Mismatch Repair Deficiency Tumour Testing for Patients With Colorectal Cancer: A Health Technology Assessment [Internet]. Ottawa (ON): Canadian Agency for Drugs and Technologies in Health; 2016 Aug. (CADTH Optimal Use Report, No. 5.3b.)

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DNA Mismatch Repair Deficiency Tumour Testing for Patients With Colorectal Cancer: A Health Technology Assessment [Internet].

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Appendix 26Characteristics of Included Studies (Question 3)

AuthorCountryInitial Study PopulationBRAF-PCR
Test Method
Hypermethylation
Test Method
BRAF-PCRBRAF-IHCHypermethylation
sensspecsensspecsensspec
Toon 201369Australia1,403 CRC patients, BRAF-PCR and IHC completed on all patients. 51 CRC samples from a registry used for methylation statusSequencingMethod not reportedxxxxxx
Bouzourene 201072Switzer-landSelected patients known to have MLH1 mutation + patients known to have sporadic CRC but loss of MLH1SequencingSingle-strand conformation analysisxxxx
Chang 201077Taiwan561 CRC patients had MSI. IHC conducted on 158 patients who were MSI high or met BG criteriaSequencingMS-PCRxxxx
Perez-Carbonell 201016SpainIHC performed on 2,265 CRC tumoursSequencingBisulfite genomic sequencing (MethyLight & SALSA)xxxx
Aleayehu 200876Slovakia22 patients who fulfilled AC, BG, or rBG criteria, plus 1 patient that was MSI high but did not fill criteria, plus 10 MSS patientsNo BRAF sequencingBisulfite genomic sequencingx
Hampel 200861USA500 CRC tumours from patients treated in 6 hospitals had IHCNo BRAF sequencingMS-PCR & COBRAxx
Julie 200874France214 consecutive CRC patients tested for MSI. Tumours that were MSI high, had IHC testing (n = 21)SequencingBisulfite genomic sequencing (COBRA)xxxx
Poynter 200871USA/Canada1,222 CRC patients from 6 registries. IHC conducted in all MSI-H and MSI-L patients (n = 719)No BRAF sequencingBisulfite genomic sequencing (MethyLight)x
Rahner 200873Germany763 CRC patients who fulfilled at least one of the rBG criteriaSequencingBisulfite genomic sequencing (COBRA)xx
Loughrey 200768Australia500 CRC tumours that were suspected to be HNPCC. 68 patients were MSI high or IHC deficientallele-specific PCR + SequencingNo hypermethylation testxx
Overbleek 200775Nether-lands667 tumours from family members suspected for Lynch syndrome because they either met the AC or the BG criteria or had history very close to the BGNo BRAF sequencingBisulfite genomic sequencing (MethyLight)x
Wang 200370USA293 consecutive tumours tested for MSI and IHCSequencingBisulfite genomic sequencingxx

AC = Amsterdam criteria; BG = Bethesda Guidelines; COBRA = combined bisulphite restriction analysis; CRC = colorectal cancer; HNPCC = hereditary non-polyposis colorectal cancer; IHC = immunohistochemistry; MSI = microsatellite instability; MS-PCR = methylation-specific polymerase chain reaction; PCR = polymerase chain reaction; rBG = revised Bethesda criteria; sens = sensitivity; spec = specificity.

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Bookshelf ID: NBK384818

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