SNPMiner Trials by Shray Alag


SNPMiner Trials: Clinical Trial Report


Report for Clinical Trial NCT01586520

Developed by Shray Alag, 2019.
SNP Clinical Trial Gene

Diagnosing Thyroid Cancer Using a Blood Test

Thyroid cancer is a relatively rare disease but its incidence is increasing in many countries.. Early and accurate diagnosis leading to earlier treatment and intervention is recognised as a major factor in determining a good outcomes. This study will investigate new ways of diagnosing thyroid cancer from blood samples using proteomic and genetic markers. The study will take samples from patients with differentiated thyroid cancer and measure relative quantities of 1000s of proteins within the blood. These measures will be explored to see if, when used in combination they can accurately diagnose thyroid cancer. If successful this technique could be extended to routine screening and could replace more invasive tests currently used. Participants will be required to supply a small sample of blood, answer questions on their medical history and also consent for their medical records to be examined. A lifestyle questionnaire will also be supplied to each participant. In the case where a diagnosis is predicted for a condition the participant was not aware of the medical team will discuss the best interests of the patient with their GP and if required refer them to a suitable specialist. The study will run for 24 months and will routinely process around 15 and 20 participants with a history of thyroid cancer per month. All patient details will be kept confidential and only non identifiable information will leave the clinic. The work will be published and if successful will be validated on another site, commercialised and made available for routine clinical use.

NCT01586520 Differentiated Thyroid Cancer
MeSH: Thyroid Diseases Thyroid Neoplasms
HPO: Abnormality of the thyroid gland Neoplasm of the thyroid gland Thyroid adenoma Thyroid carcinoma Thyroid follicular adenoma


Primary Outcomes

Description: The primary objective of the study is to derive molecular (proteomic) diagnostic signatures that that can distinguish patients with recurrent / residual thyroid cancer from those with no residual disease.

Measure: Proteomic markers of differentiated thyroid cancer

Time: 24 months

Secondary Outcomes

Description: The secondary objective is to identify genetic markers of thyroid cancer status (recurrent / residual disease versus no disease) from peripheral blood samples. Information from the proteomics component of the study are expected to identify multiple potential protein markers. Genes encoding these differentially expressed proteins will be sequenced and will guide our team as to which genetic markers in peripheral blood may be targeted in order to improve the diagnostic power of molecular testing.

Measure: Genetic markers of diffferentiated thyroid cancer

Time: 24 months

Time Perspective: Prospective

Case-Control


There is one SNP

SNPs


1 V600E

Among the described markers point mutations (BRAF V600E, NRAS codon 61, HRAS codon 61), gene rearrangements (RET / PTC1, RET / PTC3, PAX8 / PPARgamma) and other polymorphisms have been found to be useful (Nikiforova and Nikiforov, 2009, Ohori et al, 2010). --- V600E ---



HPO Nodes


HPO:
Abnormality of the thyroid gland
Genes 327
CDKN1A PCSK1 SOX3 CDKN1B GABRD TPO CDKN2B CDKN2C UBR1 IL12A TMEM67 IL12RB1 TREX1 PDE4D ZBTB20 PLVAP TRH STUB1 WDR4 SPIB TRHR MCM8 DNAJC19 MARS USP9X ENPP1 HLA-DRB1 PIEZO1 SLC26A4 ACP5 IQSEC2 GAS1 INSR MC2R GATA1 GATA6 CDH23 IRF5 RPS20 SRY TSC1 TSC2 GCH1 EXT2 TSHB TSHR KEAP1 EYA1 PTCH1 RREB1 PTEN BCOR ADA HNF4A ADAR TRIP13 GDNF ALX4 DDOST STAR HESX1 STAT1 PHF21A STAT3 TBC1D24 HIRA MEN1 NSDHL IFIH1 DACT1 BMP4 MALT1 SAA1 BMPR1A ARL6IP6 KISS1R SALL1 ALMS1 BRAF PROKR2 CLPB CLCNKB PIK3C2A PAX8 HPD PIK3CA FDX2 SGPL1 GLI2 GLI3 JAG1 KCNJ10 RNASEH2C SCN4A UFD1 BUB1 ARNT2 BUB1B VPS13A HRAS DCAF17 C1QBP MLH1 C1S ALG8 FGF8 AKT1 KIAA0556 BCL10 FGFR1 PLCG2 CDC73 GNAS SEMA4A HSD17B3 FOXH1 NODAL EIF2AK3 KDM6A TNFSF15 TRAPPC9 SEC23B TBX1 SDHB SDHC SDHD CDON FOXI1 GP1BB PMM2 TBX2 FOXP3 DUOXA2 FOXE1 PMS1 NPHS1 RNASEH2B KRAS CACNA1C RAG1 RAG2 FLII CACNA1S TCF4 SEMA3C HNF1B DMXL2 PMS2 FBLN5 ADAMTSL1 B3GLCT DEAF1 FMR1 NRAS LHX4 COMT SASH1 SLC25A4 GNE TCOF1 CLIP2 NRTN RNASEH2A WFS1 GPR35 NTRK1 RRM2B POLG EFEMP2 POLR1C WRN IYD KCNAB2 GLIS3 POMC APC SHH AIRE BAZ1B POU1F1 BIRC3 DUOX2 POU2AF1 CASP10 DNM1L CP TWNK NLRP1 CASR POU3F4 SAMHD1 MSH2 CHD7 MSH3 TDGF1 LHX3 AIP IDH1 MINPP1 IDH2 TXNRD2 RET RBM28 APOE RFC2 XRCC4 SIX1 SIX3 GTF2IRD1 ECE1 SKI DLL1 FAS FASLG TF EXOSC2 DICER1 JMJD1C ABCC6 LEP OPA1 LEPR MSTO1 EDN3 EDNRB POLR3A ZIC2 DNAH1 FAN1 TG SLC5A5 TTC7A MST1 RMRP TGFBR2 GPR161 LIFR POLR1D TGIF1 MSH6 RASGRP1 MLXIPL LIG4 SEMA3D LIMK1 KLLN KMT2D MLH3 OTX2 GTF2I MMEL1 THRA THRB SLC12A3 SEC24C LMNA COX1 COX2 COX3 IGH ARVCF WDR11 DCLRE1C SUGCT SLC16A2 NKX2-1 RCBTB1 CCBE1 FANCI BTNL2 PPP1R15B MRAP ND1 SETBP1 ND4 ND5 ND6 PTRH2 PRKAR1A LRP4 FLCN STEAP3 NKX2-5 ROBO1 PRKCD FOXP1 TRNF HABP2 TRNH FUCA1 ELN TRNL1 TRNL2 RERE CTNS GREM1 TRNN LRBA CTNNB1 KCNJ18 IGSF1 TRNQ TANGO2 TRNS1 TRNS2 BUB3 POLG2 FUT8 TRNW KAT6B HBB SUFU CEP57 IL2RA EPCAM PRDM16 IL2RG NNT TNPO3 TBL2 DISP1 RAI1 IL7R PROP1 SEMA3E GABRA3 NIN
Neoplasm of the thyroid gland
Genes 61
FOXE1 CDKN1A PMS1 CDKN1B KRAS CDKN2B CDKN2C TGFBR2 MSH6 RASGRP1 SEMA3D SEMA3C BMPR1A PMS2 KLLN MLH3 NRAS LMNA NRTN PIK3CA NTRK1 SLC26A4 JAG1 KCNJ10 WRN HRAS APC MLH1 PRKAR1A FLCN CASP10 PRKCD AKT1 RPS20 HABP2 MSH2 MSH3 CDC73 KEAP1 GREM1 MINPP1 GNAS SEMA4A RET PTEN ECE1 FAS FASLG EPCAM GDNF DICER1 SEC23B EDN3 EDNRB SDHB SDHC SDHD FOXI1 MEN1 FAN1 TG
Thyroid adenoma
Genes 16
PTEN CDKN1A FAS CDKN1B FASLG PRKAR1A CDKN2B CDKN2C PIK3CA CASP10 PRKCD RASGRP1 AKT1 MSH3 CDC73 MEN1
Thyroid carcinoma
Genes 34
FOXE1 HRAS APC PRKAR1A FLCN CASP10 PRKCD RASGRP1 AKT1 BMPR1A HABP2 KLLN CDC73 KEAP1 GREM1 MINPP1 RET NRAS PTEN FAS FASLG PIK3CA DICER1 NTRK1 SEC23B SLC26A4 JAG1 KCNJ10 SDHB SDHC SDHD FOXI1 TG WRN
Thyroid follicular adenoma