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1. WO2021091130 - BIOMARKER COMPOSITION FOR DIAGNOSING OR PREDICTING PROGNOSIS OF THYROID CANCER, COMPRISING PREPARATION CAPABLE OF DETECTING MUTATION IN PLEKHS1 GENE, AND USE THEREOF

Publication Number WO/2021/091130
Publication Date 14.05.2021
International Application No. PCT/KR2020/014570
International Filing Date 23.10.2020
IPC
C12Q 1/6886 2018.01
CCHEMISTRY; METALLURGY
12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
1Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
68involving nucleic acids
6876Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
6883for diseases caused by alterations of genetic material
6886for cancer
C12Q 1/6827 2018.01
CCHEMISTRY; METALLURGY
12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
1Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
68involving nucleic acids
6813Hybridisation assays
6827for detection of mutation or polymorphism
Applicants
  • 가톨릭대학교산학협력단 THE CATHOLIC UNIVERSITY OF KOREA INDUSTRY-ACADEMIC COOPERATION FOUNDATION [KR]/[KR]
Inventors
  • 정찬권 JUNG, Chan Kwon
  • 정승현 JUNG, Seung Hyun
  • 정연준 CHUNG, Yeun Jun
Agents
  • 특허법인 이룸리온 ERUUM & LEEON INTELLECTUAL PROPERTY LAW FIRM
Priority Data
10-2019-014218008.11.2019KR
Publication Language Korean (KO)
Filing Language Korean (KO)
Designated States
Title
(EN) BIOMARKER COMPOSITION FOR DIAGNOSING OR PREDICTING PROGNOSIS OF THYROID CANCER, COMPRISING PREPARATION CAPABLE OF DETECTING MUTATION IN PLEKHS1 GENE, AND USE THEREOF
(FR) COMPOSITION DE BIOMARQUEUR POUR DIAGNOSTIQUER OU PRÉDIRE LE PRONOSTIC DU CANCER DE LA THYROÏDE, COMPRENANT UNE PRÉPARATION CAPABLE DE DÉTECTER UNE MUTATION DANS LE GÈNE PLEKHS1, ET SON UTILISATION
(KO) PLEKHS1 유전자의 돌연변이를 검출할 수 있는 제제를 포함하는 갑상선암 진단 또는 예후 예측용 바이오마커 조성물 및 이의 용도
Abstract
(EN)
The present invention relates to: a biomarker composition for diagnosing or predicting the prognosis of thyroid cancer, comprising a preparation capable of detecting a mutation in the PLEKHS1 promoter gene; and a use thereof. The biomarker composition for diagnosing or predicting the prognosis of thyroid cancer of the present invention checks whether a mutation is present in the PLEKHS1 promoter gene, and thus may provide information needed for diagnosing metastatic (distant metastatic) differentiated thyroid cancer, and, other than for the PLEKHS1 promoter gene, also checks whether a mutation is present in BRAF, the TERT promoter, the three types of RAS and the TP53 gene, and thus, with respect to radioactive iodine therapy response and survival, can categorize the prognoses of a metastatic differentiated thyroid cancer patient into three prognostic groups, and predict same.
(FR)
Composition de biomarqueur pour diagnostiquer ou prédire le pronostic du cancer de la thyroïde, comprenant une préparation capable de détecter une mutation dans le gène promoteur PLEKHS1, et son utilisation. La composition de biomarqueur pour diagnostiquer ou prédire le pronostic du cancer de la thyroïde selon la présente invention vérifie si une mutation est présente dans le gène promoteur PLEKHS1, et peut ainsi fournir des informations nécessaires au diagnostic d'un cancer différencié de la thyroïde métastatique (métastatique à distance), et, au-delà du gène promoteur PLEKHS1, vérifie également si une mutation est présente dans le gène BRAF, le promoteur TERT, les trois types de RAS et le gène TP53, et par conséquent, en ce qui concerne la réponse thérapeutique à l'iode radioactif et la survie, peut catégoriser les pronostics d'un patient atteint d'un cancer différencié de la thyroïde métastatique en trois groupes de pronostic, et les prédire.
(KO)
본 발명은 PLEKHS1 프로모터 유전자의 돌연변이를 검출할 수 있는 제제를 포함하는 갑상선암 진단 또는 예후 예측용 바이오마커 조성물 및 이의 용도에 대한 것이다. 본 발명의 갑상선암 진단 또는 예후 예측용 바이오마커 조성물은 PLEKHS1 프로모터 유전자의 돌연변이 여부를 확인함으로써 전이성(원격 전이) 분화갑상선암으로 진단하는데에 필요한 정보를 제공할 수 있으며, PLEKHS1 프로모터 유전자 이외에 BRAF, TERT 프로모터, 3 종류의 RAS 및 TP53 유전자의 돌연변이 여부를 함께 확인함으로써 전이성 분화갑상선암 환자의 예후를 방사성요오드 치료 반응 및 생존 측면에서 3 개의 예후 그룹으로 분류 및 예측할 수 있다.
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