SCIENTIFIC BACKGROUND

AKT1, APC, ATM, BRAF, BRCA1, BRCA2, CTNNB1, EGFR, ERBB2, FBXW7, FGFR1, FGFR2, FGFR3, GNAS, KRAS, MET, MLH1, MSH2, MSH6, MTOR, NRAS, NTRK1, NTRK2, NTRK3, PALB2, PDGFRA, PIK3CA, PIK3CB, PMS2, POLE, PTEN, RAF1, SMAD4, TP53

Category:

Scientific Background

The ForeSENTIA Colorectal panel tests for single nucleotide variants, insertions, deletions, copy number alterations, and rearrangements in 34 genes which are commonly found in colorectal cancers. Colorectal cancer is the third most common type of cancer worldwide. In 2020, nearly 2 million people were diagnosed with colorectal cancer, and it is estimated that by 2040 the new cases will increase to about 3.2 million. Different risk factors, both environmental and hereditary, such as lack of physical activity and family history, can cause the development of colorectal cancer. Somatic and hereditary germline mutations, such as mutations in the APC, BRAF, KRAS genes, and others, have been linked to colorectal cancer initiation and progression. Identifying these mutations can offer an improved prognostic assessment, guidance on precision medicine tailored to each patient, and can increase the chances of survival.

 

Microsatellite instability (MSI) immunotherapy biomarker can optionally be in this panel, as MSI has been linked to colorectal cancer. Indeed, many colorectal cancer patients display high MSI status, however, studies previously showed that the presence of MSI can have a good outcome and improved prognosis. FDA/EMA immunotherapy treatments such as nivolumab and pembrolizumab are available for colorectal cancer patients with MSI high status.

 

Recommendations by professional bodies:

NCCN recommends MSI testing for all types of colorectal cancer (Benson et al., 2017)

 

References and more information: 

Information obtained by professional bodies such as WHO, Centers for Disease Control and Prevention.

Benson AB 3rd, Venook AP, Cederquist L, Chan E, Chen YJ, Cooper HS, Deming D, Engstrom PF, Enzinger PC, Fichera A, Grem JL, Grothey A, Hochster HS, Hoffe S, Hunt S, Kamel A, Kirilcuk N, Krishnamurthi S, Messersmith WA, Mulcahy MF, Murphy JD, Nurkin S, Saltz L, Sharma S, Shibata D, Skibber JM, Sofocleous CT, Stoffel EM, Stotsky-Himelfarb E, Willett CG, Wu CS, Gregory KM, Freedman-Cass D. Colon Cancer, Version 1.2017, NCCN Clinical Practice Guidelines in Oncology. J Natl Compr Canc Netw. 2017 Mar;15(3):370-398. doi: 10.6004/jnccn.2017.0036. PMID: 28275037.

GENES

AKT1, APC, ATM, BRAF, BRCA1, BRCA2, CTNNB1, EGFR, ERBB2, FBXW7, FGFR1, FGFR2, FGFR3, GNAS, KRAS, MET, MLH1, MSH2, MSH6, MTOR, NRAS, NTRK1, NTRK2, NTRK3, PALB2, PDGFRA, PIK3CA, PIK3CB, PMS2, POLE, PTEN, RAF1, SMAD4, TP53
How to order

LATEST ARTICLES

A new meta-analysis links trans-kingdom gut microbiota (bacteria, eukaryotes, viruses, archaea) to immune checkpoint inhibitor (ICI) response in canc...

Read more

Reproductive health is a fundamental aspect of human well-being, affecting individuals and communities worldwide [1]. It encompasses a wide range of ...

Read more

It seems as though everyone is talking about artificial intelligence, usually referred to as AI, these days! Indeed, not only are AI tools now access...

Read more

Orphan drugs are those developed specifically for the treatment of rare diseases. Within the pharmaceutical industry, the drug development process is...

Read more

A study of 629 pregnancies with ultrasound-detected anomalies found that exome sequencing identified pathogenic variants in 14% of cases. The detecti...

Read more

Breast cancer is a type of cancer that originates in the breast cells. Genetic changes in the DNA of the healthy breast cells can lead to the formati...

Read more

Cardiovascular diseases affect the heart and blood vessels and are a leading cause of illness and death. Some are hereditary, and genetic testing can...

Read more

A recent study tracked molecular changes in 108 people over time, revealing that aging involves critical shifts around ages 44 and 60. These changes ...

Read more

In May 2024, the American Society of Clinical Oncology (ASCO) published new guidelines for germline genetic testing in patients with cancer (1). ...

Read more

Genetics as we know and understand it today has been shaped, over decades, by the work of many dedicated scientists around the world, and they all de...

Read more