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Colorectal and Prostate Cancer NGS Panels


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Different genetic syndromes are associated with higher rates of colorectal cancer. Some of the most common are the Lynch syndrome or hereditary nonpolyposis colorectal cancer (HNPCC), the Gardner syndrome, the familial adenomatous polyposis (FAP), and MYH-associated polyposis (MAP).
Mutations in different genes are associated with higher rates of colorectal cancer some of these genes are APC, CDH1, PTEN, STK11, and TP53. Genes that are specific related to Lynch syndrome are MLH1, MSH2, MSH6, and PMS2.
The metastasis associated in colon cancer (MACC1) gene is supposed to contribute to the higher risk for metastatic disease of colon cancer (Stein et al. 2008).
Epigentic factors including DNA methylation are supposed to play a role in the development of colon cancer as well (Schuebel et al. 2007).

Mutations in different genes are discussed to be related to higher risk of prostate cancer, including the BRCA1 and BRCA2 genes (Struewing et al. 1997) as well as the hereditary prostate cancer gene 1 (HPC1).

Different NGS panels that target genes wherein mutations are associated with higher risk for developing colorectal and prostate cancer are introduced on this page. For more information about the targeted genes please contact the NGS panel provider. General information about the cancer types are available on this website.


 

Colorectal cancer

Colon Cancer NGS Panel

Tageted Genes: (21) APC, AXIN2, BMPR1A, BUB1B, CDH1, CDKN2A, CHEK2, EPCAM, EXO1, FLCN, GALNT12, MLH1, MSH2, MSH6, MUTYH, PMS1, PMS2, PTEN, SMAD4, STK11, TP53
Source: Fulgent Diagnostics

Colon cancer non-polyposis panel

Tested genes MSH2, MLH1, MSH6, PMS2, EPCAM

Source: Centogene

Colon cancer with polyps panel

Tested genes APC, BMPR1A, MUTYH, PTEN, SMAD4, STK11

Source: Centogene

COLONEXT

Ambry utilizes NGS to offer a comprehensive panel for hereditary colorectal cancer. Genes on this panel include: APC, BMPR1A, CDH1, CHEK2, EPCAM, GREM1, MLH1, MSH2, MSH6, MUTYH, PMS2, POLD1, POLE, PTEN, SMAD4, STK11, and TP53. Full gene sequencing is performed for 15 of the genes (excluding EPCAM and GREM1). Gross deletion/duplication analysis is performed for all 17 genes.
Source: Ambry Genetics

ColonSeq

ColonSeq is an ultrasequencing panel (NGS) which analyzes simultaneously 24 genes associated with susceptibility to different types of hereditary colorectal cancer.
ColonSeq is an analysis tool to analyze the main genes associated with colon cancer syndromes such as Lynch syndrome, familial adenomatous polyposis, MUTYH -associated polyposis, disorders related to PTEN, Li-Fraumeni syndrome, juvenile polyposis, cancer or diffuse gastric Peutz - Jeghers syndrome.

Source: ACgen

ColoTrue™

ColoTrue™ is a 14-gene hereditary cancer panel for individuals and families with features suggestive of hereditary colorectal cancer. This panel includes full sequencing and deletion/duplication analysis of 13 genes as well as deletion/duplication analysis of the EPCAM gene. In addition, this test also offers site-specific analysis of the MDM2–SNP309 allele. A pathogenic variant in any of these genes warrants consideration of increased colorectal cancer surveillance.
Source: Pathway

Website

Colorectal Cancer

Multi Gene Panel (16 Genes)
Targeted genes: APC BMPR1A BUB1B CHEK2 MET MLH1 MSH2 MSH6 MUTYH NBN PMS1 PMS2 PTEN SMAD4 STK11 TP53
Source: Medical Genetics Center

Colorectal Cancer Hereditary nonpolyposis (HNPCC)

Targeted genes MLH1, MSH2, MSH6, PMS2, EPCAM, TP53

Source: Mendelics

Colorectal Cancer NextGen Sequencing Panel

The Colorectal Cancer NextGen Sequencing Panel analyzes 17 genes that have been associated with hereditary colorectal cancers.
This test is suitable for individuals with a clinical history of hereditary colorectal cancers. This test especially aids in a differential diagnosis of similar phenotypes, rules out particular syndromes, and provides the analysis of multiple genes simultaneously. Individuals with multiple colorectal tumors, multifocal, recurrent, family history, and early onset (e.g. <50 years) tumors should be assessed with this panel.
Source: Prevention Genetics

Colorectal Cancer Panel

The OncogeneDx Colorectal Cancer panel includes analysis of FAP and Lynch syndrome associated genes as well as 12 other genes affecting colorectal cancer risk.
Tested genes: APC, ATM, AXIN2, BMPR1A, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2, POLD1, POLE, PTEN, SCG5/GREM1, SMAD4, STK11, TP53

Source: GeneDx

Gastrointestinal and Colorectal Cancer: Sequencing Panel

The Gastrointestinal and Colorectal Cancer Panel also includes testing for the well-described hereditary cancer predisposition syndromes; Lynch syndrome, familial adenomatous polyposis (FAP), and MYH-associated polyposis (MAP). Lynch syndrome, FAP, and MutY homolog MAP are three major known types of inherited colorectal cancer, which account for up to 5% of all colon cancer cases. Lynch syndrome is most frequently caused by mutations in the mismatch repair genes MLH1, MSH2, MSH6, PMS2, and EPCAM, and is inherited in an autosomal dominant manner.
Targeted genes: APC, ATM, BLM, BMPR1A, BRCA1, BRCA2, CDH1, CDKN2A, CHEK2, MLH1, MSH2, MSH6, MUTYH, PMS2, POLD1, PTEN, SMAD4, STK11, TP53
Source: Emory Genetics Laboratory

Hereditary Nonpolyposis Colon Cancer / Lynch Syndrome

Multi Gene Panel (4 Genes)
Targeted genes: MLH1 MSH2 MSH6 PMS2
Source: Medical Genetics Center

Hereditary Colorectal Cancer and Gastric

Targeted genes: APC, MUTYH, MSH2, MSH6, MLH1, PMS2, STK11, EPCAM, XRCC2, TP53, CDH1

Source: Mendelics

High Risk Colorectal Cancer: Deletion/Duplication Panel

Emory Genetics Laboratory (EGL) High Risk Colorectal Cancer Panel include the well-described hereditary cancer predisposition syndromes; Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis. Lynch syndrome, familial adenomatous polyposis, and MutY homolog (MYH)-associated polyposis are three major known types of inherited colorectal cancer, which accounts for up to 5% of all colon cancer cases. Lynch syndrome is most frequently caused by mutations in the mismatch repair genes MLH1, MSH2, MSH6, PMS2, and EPCAM, and is inherited in an autosomal dominant manner.
Targeted genes: APC, ATM, BLM, BMPR1A, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, PTEN, SMAD4, STK11, TP53
Source: Emory Genetics Laboratory

HNPCC MASTR Plus

The HNPCC MASTR Plus is a molecular assay (research use only) for the identification of all mutations and CNVs in 4 genes (MLH1, MSH2, MSH6, and PMS2) and 3’ UTR of EPCAM associated with hereditary non-polyposis colorectal cancer (HNPCC). Multiplicom’s HNPCC MASTR Plus assay is provided as a ready-to-use kit that offers robust performance with minimum hands-on time. All reagents necessary to enable multiplex amplification of 84 amplicons (277-443 bp) in 5 PCR reactions are included, for complete coverage of all coding sequences and selected intronic regions.
The assay is compatible with all current Massively Parallel Sequencing (MPS) systems, providing the flexibility to choose your preferred method.
Source: multiplicom

Website

Human Colorectal Cancer Panel

The Human Colorectal Cancer GeneRead DNAseq Targeted Panel is a collection of multiplexed PCR primer assays for targeted enrichment of the coding (exonic) regions of the 38 genes most commonly mutated in human colorectal cancer samples. Mutations in these oncogenes and tumor suppressor genes are often relevant for tumor classification, and warrant extensive investigation to enhance the understanding of carcinogenesis.

Source: Qiagen

Invitae Colorectal Cancer Guidelines-Based Panel

The Invitae Colon Cancer Guidelines Based Panel analyzes 12 genes, variants in which cause significantly elevated risk of hereditary colorectal cancer. These genes were curated based on published best practice guidelines for evaluation of hereditary colorectal cancer (CRC) risk. The genes included in this panel are medically actionable and have published, evidence-based management and risk-reduction options.
Source: Invitae

Invitae Colorectal Cancer Panel

The Invitae Colorectal Cancer Panel analyzes genes that are associated with a hereditary predisposition to colorectal cancer. These genes were selected based on the available evidence to date to provide Invitae’s broadest test for colorectal cancer.
The primary panel includes 18 genes that are associated with with hereditary colorectal cancer. In addition to the primary panel, clinicians can also choose to include five genes that have limited evidence of association with colorectal cancer. At this time, their association with colorectal cancer remains uncertain. However, some clinicians may wish to include genes that may prove to be clinically significant in the future.
Source: Invitae

Invitae Lynch Syndrome Panel

This test analyzes 5 genes associated with a hereditary predisposition to Lynch syndrome (also known as hereditary non-polyposis colorectal cancer [HNPCC]). This tumor predisposition syndrome is characterized by an increased risk of developing colorectal, ovarian, uterine, and other cancers.
Source: Invitae

Lynch/Colorectal High Risk Panel

Tested genes APC, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2
Disorders
Attenuated Familial Adenomatous Polyposis (AFAP)
Colorectal Cancer
Familial Adenomatous Polyposis (FAP)
Lynch Syndrome

Source: GeneDx

Lynch Syndrome

Targeted Genes: MLH1, MSH2, MSH6, PMS2
Source: Fulgent Diagnostics

Lynch syndrome

Bioarray offers a genes sequencing panel associated with Lynch syndrome.
Tested genes: MLH1 MSH2 MSH6 PMS2 EPCAM

Source: BA Bioarray

Lynch Syndrome/Hereditary Non-Polyposis Colon Cancer – HNPCC

Lynch syndrome, also called hereditary non-polyposis colon cancer (HNPCC), is characterized by an increased risk of colon cancer and other cancers (e.g., of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, upper urinary tract, brain, and skin). Lynch syndrome is inherited in an autosomal dominant manner and it is associated with germline mutations in the mismatch repair (MMR) genes MLH1, MSH2, MSH6 and PMS2. Mutation carriers have a lifetime risk of up to 80% for colorectal cancer, 20-60% risk of endometrial cancer, as well as other tumors. Lynch syndrome is associated with early onset of cancer, the average age of diagnosis is 45 years.
Source: Aspen Biotech
Sequenced genes: MLH1, MSH2, MSH6

Website

LYNCH SYNDROME NEXTGEN SEQUENCING (NGS) AND DELETION/DUPLICATION PANEL

The Lynch Syndrome NextGen Sequencing Panel analyzes 5 genes that have been associated with Lynch syndrome.
Lynch syndrome is an autosomal dominant disease mainly caused by germline mutations in one of four described MMR genes: MLH1, MSH2, MSH6, and PMS2 (Peltomäki and Vasen 2004; Kohlmann and Gruber. 2012). Mutations in the MLH1 and MSH2 genes account for approximately 80-90% of all Lynch syndrome patients and most frequently occur in families meeting the stringent Amsterdam I criteria. Mutations in the MSH6 and PMS2 genes account for most of the remaining Lynch patients and are often found in families with atypical HNPCC symptoms, such extracolonic carcinomas; and have also been found to have a low rate of MSI. Mutations in another gene, EPCAM, which encodes a calcium-independent cell adhesion molecule and not a mismatch repair protein, are also involved in Lynch syndrome.
Source: Prevention Genetics

LynchSyndromeTrue

LynchSyndromeTrue is a hereditary cancer panel designed for individuals suspected to be at-risk for Lynch (hereditary non-polyposis colon cancer or HNPCC) syndrome. Testing includes full sequencing of MLH1, MSH2, MSH6, and PMS2. Testing also includes deletion/duplication analysis for these four genes as well as the EPCAM gene.
Source: Pathway

Website

Polyposis Coli

Multi Gene Panel (7 Genes)
Targeted genes: APC BMPR1A CHEK2 MUTYH PTEN SMAD4 STK11
Source: Medical Genetics Center

Sentosa SQ CRC Panel

The Sentosa SQ CRC Panel is a Next-Generation Sequencing (NGS)-based in vitrodiagnostic test that simultaneously detects hot spot mutations in 11 genes from formalin-fixed paraffin-embedded (FFPE) samples that have previously demonstrated clinical relevance in the management of patients with colorectal cancer (CRC). This panel is intended to be used on the Sentosa SX101 with theSentosa SX FFPE II gDNA Kit in conjunction with the Sentosa ST401 andSentosa SQ301 instruments.
Source: Vela Diagnostics

Website


Prostate Cancer

Human Prostate Cancer Panel

The Human Prostate Cancer GeneRead DNAseq Targeted Panel is a collection of multiplexed PCR primer assays for targeted enrichment of the coding (exonic) regions of the 32 genes most commonly mutated in human prostate cancer samples. Mutations in these oncogenes and tumor suppressor genes are often relevant for tumor classification, and warrant extensive investigation to enhance the understanding of carcinogenesis. Prostate cancer is a neoplasm of the male reproductive gland with a high mortality rate.
Source: Qiagen

Invitae Prostate Cancer Panel

This test analyzes up to 12 genes associated with a hereditary predisposition to prostate cancer. These genes were selected based on available evidence to provide Invitae’s most comprehensive test targeting hereditary prostate cancer.
In addition to the primary panel, clinicians can also choose to include a gene that has limited evidence of association with hereditary prostate cancer.
Source: Invitae

Prostate cancer panel

Tested genes BRCA1, BRCA2, CHEK2, HOXB13, MLH1, MSH2, MSH6, NBN, PTEN, TP53

Source: Centogene

PROSTEON-GENETIC™

SCREENING FOR HEREDITARY, FAMILIAL PROSTATE CANCER IS AVAILABLE AT PENTACORE LABORATORY!
Prostate cancer is one of the most common tumorous diseases among men. The risk of an average men getting diagnosed with prostate cancer is 16%. It is well-known, that the most important risk factor is a positive family history. Fifteen percent of all prostate tumors are hereditary.

During the prevention it is really important to identify those persons who are at risk due to a positive family history of prostate cancer. There is a hereditary (genetic) mutation in the background of approx. 15% of all prostate cancers. In case of positive family history it is possible to screen mutations with high and medium penetrance at our laboratory for the following genes:
BRCA2, BRCA1, CHEK2, NBS1, HOXB13

Source: Pentacorelab


Ulrike Stein, Wolfgang Walther, Franziska Arlt, Holger Schwabe, Janice Smith, Iduna Fichtner, Walter Birchmeier, Peter M Schlag (2008) MACC1, a newly identified key regulator of HGF-MET signaling, predicts colon cancer metastasis | PubMed|

Schuebel KE, Chen W, Cope L, Glöckner SC, Suzuki H, Yi JM, Chan TA, Van Neste L, Van Criekinge W, van den Bosch S, van Engeland M, Ting AH, Jair K, Yu W, Toyota M, Imai K, Ahuja N, Herman JG, Baylin SB (2007) Comparing the DNA hypermethylome with gene mutations in human colorectal cancer |PubMed|

Struewing JP, Hartge P, Wacholder S, Baker SM, Berlin M, McAdams M, Timmerman MM, Brody LC, Tucker MA (1997) The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews |PubMed|


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