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
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