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Report for Clinical Trial NCT01586520

Developed by Shray Alag, 2020.
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 Neoplasms Thyroid Diseases
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 465
UBR1 PTEN CLPB TBC1D24 BIRC3 HNF1B TMEM67 BCOR OPA1 RAI1 TRNL1 MMP2 NNT LHX4 SLC16A2 POU2AF1 IQSEC2 TGIF1 GREM1 TREX1 CDON POU1F1 WDR11 DICER1 SALL1 PROKR2 RASGRP1 PAX8 DNAH1 NSDHL XRCC4 SDHD PRKCD LRP4 PTRH2 LEPR RET IYD PCSK1 KEAP1 DICER1 FOXI1 POLG PMM2 FGF8 MARS1 ENPP1 CDKN2C GPC1 TSHR DISP1 TSHR GLI3 FOXE1 FOXA2 TBX1 NKX2-1 EYA1 ALG8 HIRA CEP57 MLXIPL HSD17B3 CDH23 LEP CLIP2 TRNF MSTO1 LHX3 BUB1B FLCN PDE4D SEMA3C LIG4 PAX8 GLI2 TRAPPC9 MEN1 IFIH1 SRGAP1 CTLA4 DUOX2 KISS1R KCNJ18 PTEN TBL2 ALMS1 ROBO1 AIP MINPP1 DCAF17 BMPR1A FANCI SPIB PIK3C2A ARVCF MC2R MST1 SEC24C TG IL2RG SUFU HESX1 GNAS THRB KCNJ10 JMJD1C IL12RB1 MEN1 TRNS1 ND5 MMEL1 SEMA3D COMT TSHR TSHR SUFU LIFR SKI STAT3 APC TRNL2 TTC37 INSR GTF2I TDGF1 NRTN TXNRD2 TWNK FOXP1 TBX2 SMARCB1 TRNH PMS2 IDH1 PROP1 PRDM16 IYD LHX4 GNAS NNT TSHR PAX8 DLL1 SLC26A4 TRNL1 NKX2-1 GNAS SLC5A5 LRBA POLG TSHR GABRD GP1BB SIX3 POLR3A POU1F1 SKIV2L VPS13A KRAS NODAL GNAS XRCC4 MSH2 GATA6 IGSF1 CHD7 SEMA3E EDNRB TTC7A NRAS DDOST SLC26A4 DUOXA2 TRNS1 CACNA1S TSHB RAI1 CDKN1A RPS20 KCNJ18 SRD5A3 FOXP3 FBLN5 TRH TPO HPD GPR161 KAT6B FGFR1 COX1 THRB SAA1 STAR MRAP EDN3 NKX2-5 SCN4A FOXE1 CDC73 TG TRNW COX3 EFEMP2 RREB1 FOXE1 TSHR LHX4 NKX2-5 IL12A RNASEH2A DICER1 TGFBR2 NKX2-5 COX2 PAX8 MINPP1 FAS APC LIG4 DUOX2 POLR1D USP9X GLI3 RRM2B FMR1 PLAA C1S SASH1 BTNL2 SEC23B NLRP1 HRAS NKX2-1 NIN GABRA3 ADA TCOF1 FASLG ZFAT CDC73 CLCNKB PROP1 THRB RMRP APC SLC5A5 PRKAR1A FOXI1 RCBTB1 BCL10 BAZ1B APC LIG4 OTX2 WFS1 POU3F4 GAS1 HSD17B3 ND4 RFC2 RERE DACT1 MSH3 PIK3CA MMP14 THRA SLC26A4 ALX4 IDH2 FAN1 TWNK TRNQ TBX1 MSH3 GTF2IRD1 RAI1 CDKN2B PROP1 HESX1 TRNN C1QBP ARNT2 RET CDON CCBE1 CDH23 TNFSF15 RBM28 BRAF IFNG SOX3 SUGCT ITCH BMP4 PRKAR1A GPR35 STAT1 CTNS CASP10 CACNA1C LHX3 TRIP13 B3GLCT JAG1 KIAA0556 DEAF1 KDM6A TSC1 CTNNB1 PTEN FUCA1 ELN GLIS3 PLVAP FLCN KMT2D PTCH1 SIX1 BUB3 TSC1 RET LEPR PLCG2 SLC25A4 FUT8 EXOSC2 DNM1L PDGFB WFS1 POU1F1 ELN SRY MLH3 ND6 DUOXA2 SETBP1 STEAP3 FOXH1 TG DMXL2 HNF4A KAT6B UFD1 FMR1 EIF2AK3 PMS1 TNPO3 ECE1 CACNA1S TSC2 APOE AKT1 SGPL1 WDR4 RAG1 SDHC MLH1 MCM8 LMNA TF POLG2 EXT2 TSC2 NF2 BUB1 PIEZO1 FOXP3 PPP1R15B MSH6 RET APC HABP2 KCNJ10 FOXD3 LHX4 GLI2 CASR ZIC2 TRNW ARL6IP6 DCLRE1C FAS HESX1 TRNS2 IL7R STUB1 PRKAR1A POLR1C NPHS1 PIK3CA POMC ALMS1 FOXE1 LIMK1 TSHB RNASEH2B GNE STAT1 GDNF AIRE APC PDE4D SHH AKT1 TPO IL2RA HLA-DRB1 PROP1 FDX2 TRHR ACP5 SOX3 SLC12A3 HABP2 CDC73 DNAJC19 ND1 CDKN1B CHD7 IGH ADAR SLC26A4 MEN1 FOXE1 RNASEH2C TANGO2 EPCAM NKX2-1 TCF4 KLLN ADAMTSL1 SEC23B SEMA4A ZBTB20 PIK3CA GCH1 FLII RAG2 BMPR1A HBB USP9X ABCC6 SALL1 CTNS WRN PTEN MALT1 PTEN SDHB KCNAB2 MSTO1 DUOX2 CEP57 IRF5 CP TBX1 CDKN1B TSHR GATA1 TONSL SAMHD1 PHF21A ATRX DCLRE1C
Neoplasm of the thyroid gland
Genes 91
ECE1 CASP10 NRTN PTEN JAG1 AKT1 SDHC PTEN MLH1 HABP2 PMS2 APC CDC73 EDN3 LMNA FLCN CDKN1B SEMA3C CDC73 TG GREM1 SLC26A4 DICER1 MSH3 MSH6 RET GNAS APC HABP2 PIK3CA RASGRP1 KCNJ10 EPCAM RET KLLN SRGAP1 SDHD PRKCD SEC23B PTEN TGFBR2 SEMA4A PIK3CA FAN1 MINPP1 FAS RET MINPP1 APC MSH3 BMPR1A FAS KRAS CDKN2B KEAP1 DICER1 MSH2 FOXI1 BMPR1A EDNRB PRKAR1A NRAS MLH3 SEC23B WRN PTEN HRAS PTEN SLC26A4 CDKN2C RET PIK3CA NKX2-1 FOXE1 SDHB KCNJ10 FASLG MEN1 CDKN1A RPS20 CDC73 SEMA3D PRKAR1A FOXE1 CDKN1B GDNF PMS1 APC AKT1 APC FOXI1
Thyroid adenoma
Genes 19
CDKN1B FAS CASP10 CDC73 MSH3 FAS FASLG CDKN2B MEN1 CDKN1A AKT1 MSH3 PIK3CA RASGRP1 PRKAR1A PTEN CDKN1B PRKCD CDKN2C
Thyroid carcinoma
Genes 53
CASP10 JAG1 SDHC HABP2 APC CDC73 FLCN TG GREM1 SLC26A4 DICER1 APC HABP2 RASGRP1 KCNJ10 RET KLLN SRGAP1 SDHD PRKCD SEC23B PTEN PIK3CA MINPP1 FAS RET MINPP1 APC FAS KEAP1 DICER1 FOXI1 BMPR1A PRKAR1A NRAS SEC23B WRN PTEN HRAS SLC26A4 RET NKX2-1 FOXE1 SDHB KCNJ10 FASLG CDC73 PRKAR1A FOXE1 APC AKT1 APC FOXI1
Thyroid follicular adenoma