Detect, Characterize.
Genomic research continues to identify mutations associated with specific cancers and, in combination with clinical research, to identify their clinical relevance to a specific cancer and the prognosis/treatment for patients. While some mutations may be pathogenic, some are benign. Mutation profiling allows us to identify which mutations are present, determine clinical significance of those mutations, and identify pathogentic mutations with actionable therapies. To this end, mutation profiling using next generation sequencing and targeted cancer-specific panels allows us to detect mutations across multiple genes simultaneously and to screen patient susceptibility to a specific cancer.
All GenOnc Cancer-Specific Gene Panels
Breast Cancer
GenOnc BRCA1 & 2 Gene Panel (2 Genes, 174 amplicons; CPT codes: 81211, 81213)
GenOnc Germline and somatic mutations of BRCA genes have been shown, in clinical trials of advanced ovarian cancer, to induce favorable responses to a class of drugs known as PARP inhibitors. BRCA genes are now important biomarkers for the management of ovarian cancer. The BRCA1 and BRCA2 GeneRead DNAseq Targeted Panel has been designed to enable comprehensive and efficient analysis of the two genes from blood and FFPE samples. The panel is part of a sample-to-insight workflow that enables you to go from DNA sample to interpreted variants in 3 days.
GenOnc Comprehensive Breast Cancer Panel (93 Genes)
GenOnc Breast Cancer Targeted Panel is a collection of multiplexed PCR primer assays for targeted enrichment of the coding (exonic) regions of the 44 genes most commonly mutated in human breast 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. Breast cancer is a heterogeneous disease, and each tumor subtype has a specific prognosis and molecular mechanism. These molecular mechanisms include point mutations, potentially rendering the gene of interest inactive or hyperactive. For example, PIK3CA (p110α), a PI3K catalytic subunit, is commonly mutated in a variety of breast cancer subtypes. One common activating mutation for PIK3CA is H1047R. This mutation can cause an increase in PI3K/PTEN/AKT signaling, a common carcinogenic mechanism. There are hundreds of additional identified PIK3CA mutations, and many have functional consequences. In addition, there are clearly many other genes that are highly mutated in breast cancer. Therefore, sequencing analysis is an efficient method to examine a tumor sample for multiple potentially mutated genes. This panel narrows the focus to the most relevant mutated genes in breast cancer, using a variety of resources such as recent whole genome/exome sequencing studies from scientific networks including the Cancer Genome Atlas. Curated databases such as the Cancer Gene Census and COSMIC (Catalogue of Somatic Mutations in Cancer) are also used.
Colorectal Cancer
GenOnc Colorectal Cancer Panel (71 Genes)
GenOnc Colorectal Cancer 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. Colorectal cancer has an increased incidence in older patients, and is easily treated if detected at an early stage. There are 2 major mechanisms of colorectal cancer progression: microsatellite instability and chromosomal instability. Due to these mechanisms, multiple genes are commonly mutated in a colorectal tumor. For example, the tumor suppressor gene adenomatosis polyposis coli (APC) is commonly mutated in colorectal cancer, dysregulating Wnt signaling. Each patient’s tumor is different, and few present with identical APC mutations. In addition, Wnt signaling can also be dysregulated in colorectal cancer due to β-catenin (CTNNB1) mutation or mutations of genes further upstream in the signaling pathway. Therefore, a panel of key genes commonly mutated in colorectal cancer is an efficient way to research a tumor sample’s potential carcinogenic mechanisms. This panel narrows the focus to the most relevant mutated genes in colorectal cancer, using a variety of resources such as recent whole genome/exome sequencing studies from scientific networks including the Cancer Genome Atlas. Curated databases such as the Cancer Gene Census and COSMIC (Catalogue of Somatic Mutations in Cancer) are also used.
Myeloid Leukemia
GenOnc Myeloid Neoplasm Panel (141 Genes)
GenOnc Myeloid Neoplasms Panel is a collection of multiplexed PCR primer assays for targeted enrichment of thecoding (exonic) regions of the 50 genes most commonly mutated in human myeloid leukemia samples. Mutationsin these oncogenes and tumor suppressor genes are often relevant for cancer classification, and warrant extensiveinvestigation to enhance the understanding of carcinogenesis. The term myeloid leukemia covers a spectrum ofdiseases called hematological neoplasms, but mostly refers to cancer of the blood or bone marrow characterized by an abnormal increase in immature myeloid white blood cells. Common initiating events for leukemia carcinogenesis are upregulation of survival genes and dysregulation of cell growth. Genes commonly mutated during these events include the receptor tyrosine kinases FLT3 or KIT for acute myeloid leukemia, and TP53 or RB1 for chronic myeloid leukemia. Each of these genes can acquire a variety of different mutations, and each myeloid neoplasm itself can acquire mutations in multiple genes. Therefore, a panel of key genes commonly mutated in myeloid leukemia is an efficient way to research a tumor sample’s potential carcinogenic mechanisms. This panel narrows the focus to the most relevant mutated genes in myeloid leukemia, using a variety of resources such as recent whole genome/exome sequencing studies from scientific networks including the Cancer Genome Atlas. Curated databases such as the Cancer Gene Census and COSMIC (Catalogue of Somatic Mutations in Cancer) are also used.
Liver Cancer
GenOnc Liver Cancer Panel (33 Genes)
GenOnc Liver Cancer Panel is a collection of multiplexed PCR primer assays for targeted enrichment of the coding (exonic) regions of the 33 genes most commonly mutated in human liver 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. Hepatocellular carcinoma (HCC), the most common form of liver cancer, has a poor prognosis and low survival rate. The second most common form of liver cancer is cholangiocarcinoma, a cancer of the bile ducts. Although these 2 forms of liver cancer have different molecular mechanisms and prognoses, there are some similarities. For example, TP53 and ß-catenin are the most common mutated genes in HCC, whereas TP53 and KRAS are the most common mutated genes in cholangiocarcinoma. There are multiple potential mutation sites in each of these genes. Therefore, sequencing analysis is an efficient method to examine a tumor sample. This panel narrows the focus to the most relevant mutated genes in liver cancer, using a variety of resources such as recent whole genome/exome sequencing studies from scientific networks including the Cancer Genome Atlas. Curated databases such as the Cancer Gene Census and COSMIC (Catalogue of Somatic Mutations in Cancer) are also used.
Lung Cancer
GenOnc Lung Cancer Panel (72 Genes)
GenOnc Lung Cancer Panel is a collection of multiplexed PCR primer assays for targeted enrichment of the coding (exonic) regions of the 45 genes most commonly mutated in human lung 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. The two major forms of lung cancer are small-cell lung carcinoma (SCLC) and non-small-cell lung carcinoma (NSCLC), although these classifications are no longer always used. One gene commonly mutated in both forms of lung cancer is the retinoic acid receptor RARβ (RARB). Mutations in this gene can cause a loss of activity, upregulating oncogenic processes. There are multiple potential mutation sites in RARB. Therefore, sequencing analysis is an efficient method to examine a tumor sample. There are additional genes commonly mutated in lung cancer as well. This panel narrows the focus to the most relevant mutated genes in lung cancer, using a variety of resources such as recent whole genome/exome sequencing studies from scientific networks including the Cancer Genome Atlas. Curated databases such as the Cancer Gene Census and COSMIC (Catalogue of Somatic Mutations in Cancer) are also used.
Ovarian Cancer
GenOnc Ovarian Cancer Panel (32 Genes)
GenOnc Ovarian Cancer 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 ovarian 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. Ovarian cancer has the highest mortality rate of all gynecological cancers, partly because it is often discovered at a late stage of progression. There are many subsets of ovarian cancer; however they can all be divided into type I (low-grade) tumors or type II (high-grade) tumors. Type I tumors typically have mutations in BRAF and KRAS, whereas type II tumors commonly have mutations in TP53, BRCA1, and BRCA2, increasing genomic instability. A panel of key genes commonly mutated in ovarian cancer is an efficient way to research a tumor sample’s potential carcinogenic mechanisms. This panel narrows the focus to the most relevant mutated genes in ovarian cancer, using a variety of resources such as recent whole genome/exome sequencing studies from scientific networks including the Cancer Genome Atlas. Curated databases such as the Cancer Gene Census and COSMIC (Catalogue of Somatic Mutations in Cancer) are also used.
Prostate Cancer
GenOnc Prostate Cancer Panel (32 Genes)
GenOnc Prostate Cancer 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. There are many mutations that can cause the oncogenic progression of a prostate tumor. For example, NKX3-1 is a tumor suppressor involved in prostate development. Losses of heterozygosity or mutations leading to decreased NKX3-1 expression both promote prostate cancer progression. However, mutations in other genes are typically required for prostate cancer to progress and become invasive. Therefore, sequencing analysis is an efficient method to examine a prostate tumor sample for multiple potential mutations in multiple genes. This panel narrows the focus to the most relevant mutated genes in prostate cancer, using a variety of resources such as recent whole genome/exome sequencing studies from scientific networks including the Cancer Genome Atlas. Curated databases such as the Cancer Gene Census and COSMIC (Catalogue of Somatic Mutations in Cancer) are also used.
Gastric Cancer
GenOnc Gastric Cancer Panel (29 Genes)
GenOnc Gastric Cancer Panel is a collection of multiplexed PCR primer assays for targeted enrichment of the coding (exonic) regions of the 29 genes most commonly mutated in human gastric 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. Gastric cancer, or stomach cancer, originates in any part of the stomach, but can spread to other organs such as the esophagus, liver, lungs, and lymph nodes. Gastric cancer is not as well-defined molecularly as other cancer types, and the key driver mutations have not yet been identified. However, many genes commonly mutated in gastric cancer have been identified, such as PIK3CA. Therefore, a panel of genes commonly mutated in gastric cancer is an efficient way to research a tumor sample’s potential carcinogenic mechanisms. This panel narrows the focus to the most relevant mutated genes in gastric cancer, using a variety of resources such as recent whole genome/exome sequencing studies from scientific networks including the Cancer Genome Atlas. Curated databases such as the Cancer Gene Census and COSMIC (Catalogue of Somatic Mutations in Cancer) are also used.