SCIENTIFIC BACKGROUND

IDH1, IDH2

Category:

Scientific Background

The ForeSENTIA IDH1 and IDH2 Gene-Focused Panel tests for single nucleotide variants, insertions and deletions on the IDH1 and IDH2 genes. IDH1 and IDH2 are genes transcribed into metabolic enzymes responsible for converting isocitrate to α-ketoglutarate. This protein is essential in cell metabolism, regulation of cell signaling pathways, and cell proliferation.

In cancer, they were found to be frequently mutated resulting in abnormal cell signaling regulation, and cell proliferation of cancerous cells. Some examples of cancers caused by mutations in IDH1/IDH2  include glioblastomas, cholangiocarcinomas, and others.

 

Different drugs against IDH1 and IDH2 are currently being studied for their efficacy in different types of tumors. One drug that was recently approved by the FDA is ivosidenib, which targets IDH1 in cholangiocarcinoma patients.

 

Recommendations by professional bodies:

ESMO recommends genetic testing of IDH1 and IDH2 genes for patients with cholangiocarcinoma (Normanno et al., 2022)

 

References and more information: 

Yang H, Ye D, Guan KL, Xiong Y. IDH1 and IDH2 mutations in tumorigenesis: mechanistic insights and clinical perspectives. Clin Cancer Res. 2012 Oct 15;18(20):5562-71. doi: 10.1158/1078-0432.CCR-12-1773. PMID: 23071358; PMCID: PMC3897211.

Normanno N, Martinelli E, Melisi D, Pinto C, Rimassa L, Santini D, Scarpa A. Role of molecular genetics in the clinical management of cholangiocarcinoma. ESMO Open. 2022 Jun;7(3):100505. doi: 10.1016/j.esmoop.2022.100505. Epub 2022 Jun 10. PMID: 35696744; PMCID: PMC9198375.

GENES

IDH1, IDH2
How to order

LATEST ARTICLES

Cancer is a group of genetic diseases that can develop almost anywhere in the body. Many people in the world are affected by cancer every year. Follo...

Read more

Aiming to evaluate the role of chromosomal aneuploidy in pregnancy loss, a 2023 study 35 years in the making evaluated the genomic landscape of first...

Read more

Cancer is a complex genetic disease that affects millions of people in the world. It is one of the leading causes of death worldwide, with about ten ...

Read more

Researchers created a detailed map of the placenta during labor. By studying how maternal and fetal cells communicate, they discovered signals in the...

Read more

A recent paper published in Nature Medicine (1) aimed to identify genes and genomic biomarkers which can better predict outcomes and personalized the...

Read more

In honor of the international day of women and girls in science, we interviewed one of our very own, Dr. Evelina Papaioannou. Dr. Evelina Pa...

Read more

Aneuploidies, such as translocations, whole or segmental chromosomal duplications, and deletions, are examples of chromosomal abnormalities that are ...

Read more

Here you can read the winning essays from the first, annual DNA essay competition on the subject of "How unfolding the DNA code can help with precisi...

Read more

Introduction Our voices are as unique as our fingerprints! Although there are people whose voices might sound alike, there are no two voices exact...

Read more

Not everyone likes winter. For people who do not enjoy the cold weather, or having to put on a thick coat to go outside, a winter can be a source of ...

Read more