Knowledge Base

A selection of cancer genes tested


ABL1 is a so-called proto-oncogene, which can transform into an oncogene, that is, a gene actively facilitating tumor formation in case of a gene defect, as a result of the structural changes of the protein encoded by the gene. The most common gene defect affecting the ABL1 is associated with chronic myeloid leukemia. In this case, the ABL gene on chromosome 9 is translocated to chromosome 22. As a result, the tyrosine kinase enzyme encoded by the gene is produced in an abnormal form. In addition, ABL activation can be also observed in solid tumors (lung or breast cancer).


The AKT1 gene produces an enzyme called protein kinase B (PKB). Although AKT1 mutations are rare, when such mutations occur, they are often associated with cancer (for example, gastric cancer, lung cancer, breast cancer, ovarian cancer, prostate cancer and colon cancer). Direct inhibitors are currently developed for this AKT1.


The ALK gene produces a protein called anaplastic lymphoma kinase. The ALK gene may have cancerogenous effects in two ways. In one case, it can create a fusion gene with several other genes; in the other case, mutations occur in the ALK genes. The first group includes EML4/ALK translocation, which occurs in 4-7% of non-small cell lung cancer. The gene defect was detected in other tumor types (such as colon tumors), as well. There is an already approved ALK inhibitor on the market for the treatment of lung tumor containing EML4/ALK translocation. In addition, irrespective of the histological type, further clinical trials are ongoing for any ALK mutation.


APC is a tumor inhibitor or so-called tumor suppressor gene. The APC gene may play an important role in the formation of colon cancers. APC inactivation is the most common mutation in this tumor type. The mutation of APC also causes the polyposis types of hereditary colon cancers (familial polyposis; FAP). Familial polyposis is a hereditary condition that is characterized by the formation of a hundred or more gland polyps in the colon and rectum. These polyps cover the intestinal wall from which tumors are likely to develop at a later stage.


The ATM gene got its name after “Ataxia telangiectasia”, a condition characterized, among others, by an increased predisposition to tumor formation. One of the characteristics of this condition is that ATM gene defects are present in all patients, with no exceptions. The ATM gene defect is associated with an increased predisposition to breast cancer and increased risk of lymphomas and leukemia.


In the case of the BRAF gene, over 30 mutations have been detected that can be associated with the occurrence of cancer. In addition to pigmented mole tumors, defective BRAF protein occurs most commonly in melanomas. 50-60% of the melanomas belong to this group. BRAF mutation may occur less frequently in some other tumor types, for example, in 1-3% and 5% of lung cancers (adenocarcinomas and non-small cell lung cancers) and colon cancers, respectively. BRAF inhibitors were developed for melanoma, but it is possible that in the future these same drugs may be used for the treatment of BRAF-mutant colon and lung cancers.


The CDH1 gene is a tumor suppressor gene. The CDH1 gene produces a protein called E-cadherin. Function loss of E-cadherin or a decrease in the production of this protein is associated with the progression of tumors (non-small cell lung cancer and melanoma) and metastases. E-cadherin is used by pathologists to distinguish among various breast cancers during diagnosis.


The CDKN2A gene produces a tumor suppressor protein called P16. This protein plays a role in the regulation of the cell cycle. In addition, the mutations affecting this gene increase the risk of various cancer types, especially that of pigmented mole tumors or melanomas.


The CSF1R gene produces a protein called M-CSFR in humans. The mutations of this gene are associated with chronic myeloid leukemia (already mentioned for ABL1), as well as breast cancer and ovarian cancer.


The CTNNB1 gene produces a protein called beta-catenin. Increased beta-catenin production was observed in the case of a skin cancer type, that is, in basal cell carcinoma. In addition, CTNNB1 gene defects are associated with the occurrence of colon cancer and ovarian cancer.


The EGFR gene is a growth factor produced by epithelial cells, which is the most important growth regulator in these cells. EGFR gene defects, mutations and multiplications are frequent and occur in many cancer types. These are characteristic to lung cancers, but according to the most recent results, mutations were found in a few percent of ovarian cancers, gastric cancers and head and neck tumors. There are already two tyrosine kinase inhibitors and two monoclonal antibody EGFR inhibitors on the market approved for the inhibition of EGFR.


The multiplication of the HER2 gene is associated with several cancer types. This defect of the HER2 occurs in some types of breast cancers and gastric cancers, and in one quarter of pancreas cancers and 5% of colon cancers. A HER2-protein inhibitor monoclonal antibody is already available for HER2-positive breast cancer and gastric cancer. In addition, point-mutations can occur on a certain section of HER2. These mutations occur in some lung cancer types (4% of the adenocarcinomas) and 3% of colon cancer. In these cases, a small molecule enzyme inhibitor is recommended for the inhibiting the defective protein, which inhibit not only EGFR, but also HER2.


Similarly to EGFR or HER2, ERBB4 (or HER4) is also a growth factor receptor. Just as with the other two proteins, HER4 may also play a role in the formation of some tumor types of epithelial origin. There are ongoing clinical trials, conducted with HER-4 inhibiting targeted drugs.


The FBXW7 gene produces the F-box proteins. All of these proteins contain a common sequence (the F-box) containing about 40 amino acids. Gene defects have been associated with the formation of ovarian and breast cancers during experiments conducted with cell lines.


The FGFR1 gene encodes a protein facilitating the growth of fibroblasts.  FGFR1 gene defects have been associated, among others, with the different types of breast cancer, prostate cancer, bladder cancer, melanomas and lung cancer.


The FGFR2 gene produces a protein with the same name, which also stimulate the growth of fibroblasts. FGFR2 gene defects may increase the risk of breast cancer by 2-4%. In addition, they have been associated with uterine cancer, lung cancer, gastric cancer and ovarian cancer.


FGFR3 gene defects are associated with the formation of bladder tumors. According to research data, 50% of bladder tumors are caused by FGFR3 gene defects. This gene contains 3 sections which contain over 90% of the mutations. These sections must be tested in order to select the appropriate medication therapy.


The FLT3 gene produces the FLT-3 protein, also known as CD-135. This is a receptor that is located on the surface of cells, from which cellular elements of the blood form. FLT3 is a proto-oncogen, that is, if mutations occur in the gene it transforms into an oncogene, which may facilitate the tumor formation. Cancer types that may be associated with FLT3 are, for example, acute myelogenous leukemia (AML), for which a promising active substance is sorafenib, also used in liver cancer.


The GNAS that encodes the GNAS protein has been associated with pancreas cancer according to the results published in 2011.


HNF1A mutations have been associated with pancreas cancer and liver cancer (results published in 2011).


HRAS mutations are especially frequent in head and neck tumors (22%). It is an indirect drug target and a negative predictive biomarker for EGFR inhibitors. The latter means that in the presence of HRAS mutations EGFR inhibitors will not be effective.


IDH1 mutations were associated with the most common type of brain tumors, gliomas in 2009.


Studies so far show that JAK2 gene defects are associated with several types of hematopoietic tumors.


The most recent studies show that, in addition to hematopoietic tumors, JAK3 gene defects are associated with some types of lung cancer.


The KDR gene encodes a VEGF receptor, called VEGFR-2. The VEGF (vascular endothelial growth factor) play an important role in hematopoiesis. Recent studies show that mutations of this gene are associated with prostate cancer.


The KIT gene encodes a protein called a c-KIT (CD117), which is a cell surface growth factor receptor. KIT mutations occur in a rare type of gastrointestinal cancers, in gastrointestinal stromal tumors, and in brain tumors (glioma), in a type of liver cancers (hepatocellular carcinoma; HCC), in kidney cell tumors (renal cell carcinoma; RCC), chronic myeloid leukemia (CML) and malign pigmented skin cancers, some melanomas. KIT mutations are also present in 2% of small cell lung cancer.


One of the most common oncogene. Its activating mutation may occur practically in all solid tumors, most frequently in pancreas, colon and lung adenocarcinomas. It is an indirect drug target and a biomarker of the ineffectiveness of EGFR inhibitors.


A cell surface growth factor receptor. Its activating mutation and multiplication occur in several tumor types. Its activation may be responsible for the secondary resistance to EGFR inhibitor therapies. For its inhibition an ALK/MET double inhibitor agent is marketed in another indication. In addition, several other active substances are also under development.


MLH1 gene mutations are associated with the so-called Lynch syndrome, which is a type of hereditary non-polyposis colon cancers.


The most recent studies show that MPL gene mutations are associated with pancreas cancers.


The signaling pathways of Notch genes are defectively regulated in a number of cancer types, including gastrointestinal tumor, non-small cell lung cancer, breast cancer, melanomas and ovarian cancer.


NPM1 gene mutations were detected, among others, in patients with non-Hodgkin lymphoma, acute promyelocytic leukemia and acute myelogenous leukemia.


The activating mutation of NRAS occurs most commonly in melanomas (19%). It is a predictor of the ineffectiveness of EGFR inhibitor therapies in colon cancers and an indirect drug target.


PDGFRA gene mutations are associated with gastrointestinal stromal tumors (GIST).


A signaling gene, which activates primarily the AKT/mTOR pathway. Clinical trials are currently conducted with kinase inhibitors for PIK3CA mutants, irrespective of the histological type. PIK3CA mutation may be a predictive biomarker for the efficiency of some already marketed EGFR inhibitors.


PTEN is the most frequently defective tumor suppressor gene in human tumors. The different PTEN gene defects accelerate the division of abnormal cells and decrease the chances of cell death. Cancer types associated with PTEN gene defects: glioblastomas, uterine cancer and especially prostate cancer. Some types of breast cancers are also associated with PTEN mutations.


PTPN11 gene defects are associated with neuroblastomas, melanoma, acute myeloid leukemia, breast cancer, lung cancer, and colon tumors.


The retinoblastoma protein encoded by RB1 is a tumor suppressor protein, which is defective in several tumor types. In case of RB1 defect, bladder cancer, lung cancer, breast cancer, bone cancer or melanoma may occur.


RET gene defects have been primarily associated with pancreas cancers.


SMAD4 gene defects have been associated with juvenile colon polyp syndrome, colon cancers and pancreas cancers.


SMARCB1 is a tumor suppressor gene; the results obtained so far show that its mutations are associated with a rare childhood renal cancer.


If mutates, the SMO gene may become an oncogene and be associated, for example, with ovarian cancer.


SRC gene defects are associated with colon cancers and breast cancers. The discovery of this gene was paramount in understanding the relationship between the defects of the cellular signaling processes and cancer formation.


STK11 gene defects are associated with both breast cancer and non-small cell lung cancer.


The TP53 gene encodes the p53 protein, which is a very important tumor suppressor protein because it regulates the cell cycle. The role of TP53 is currently evaluated in several cancer types. It is associated with all the following conditions: melanoma, breast cancer, head and neck tumors, lung cancer, gastric cancer, colon cancer, bladder cancer, prostate cancer and ovarian cancer.


VHL gene defects are associated with renal cancer (renal cell carcinoma; RCC).


The CHEK2 gene encodes the checkpoint kinase 2 protein, which acts as a tumour suppressor, by regulating cell division, so it goes in a normal way. The mutation of the CHEK2 gene can be inherited in breast cancer. Beside breast cancer they have found mutations of this gene in tumours that are indicated in prostate, lung, colon, kidney, thyroid, ovarian, brain cancers and in


The DDR2 gene encodes a protein which is a receptor tyrosine kinase (RTK) and is called, discoidin domain-containing receptor 2. The protein is on the cell surface and plays a role in regulating cell growth, metabolism and differentiation. DDR2 gene mutations have been found in 2.5–3.8% of squamous cell carcinomas of the lung and in 4% of lung tumours with adenocarcinoma.


The EZH2 gene encodes a member of the Polycomb-group family (PcG) called histone-lysine N-methyltransferase enzyme, which is also known as a gene silencer. The histone methyl transferase is involved in regulating expression of several gene, by transcriptional repression. The overexpression of the protein was first reported in breast and prostate cancer. But it can also occur in gastric, lung, bladder and endometrial cancer.


The GNAQ gene is located on the long arm of chromosome 9 at position 21. It encodes the guanin nucleotid binding protein (G protein) which is a modulator or transducer of several signaling pathways within the cell. It regulates B-cell selection and survival. Mutation of the gene is in patients who have melanoma.


The GNA11 gene is similar to the GNAQ gene. It encodes the G proteins α subunit, therefore the produced protein plays a role in cell signaling. The gene is located on the short arm of chromosome 19 at position 13.3. Somatic mutations in GNA11 have been found in up to 34% of primary uveal melanomas and up to 63% of uveal melanoma metastases.


The protein which is encoded by this gene is an enzyme called isocitrate dehydrogenase enzyme. This enzyme plays a role in producing energy for the cell within the mitochondrium in the TCA cycle. Studies show that the gene was mutated in 9.1% of acute myeloid leukemia cases.


The IGF1R gene is located on the long arm of chromosome 15 at position 26.3. The gene by coding IGF1R protein plays a role in cell growth and survival. The mutation of the gene can be found in breast, prostate and lung cancers.


The MAPK1 gene provides the MEK1 protein kinase, which is a member of the RAS/MAPK signaling pathway which plays a part in regulating cell growth, proliferation, differentiation, apoptosis. Mutation of this gene occurs in melanoma, non-small cell lung carcinoma and in colorectal adenocarcinoma.


The PDGFRB gene encodes a member of the immunglobulin superfamily which is part of the receptor tyrosine kinase family. The encoded protein is the platelet-derived growth factor receptor beta (PDGFRBβ), which plays role in cell survival, growth and proliferation. The mutation of the gene causes a type of cancer which is called the PDGFRB-associated chronic eosinophilic leukemia.


The phosphatidyleinositol 3-kinase (PIK3) which is partly encoded by this gene, plays part in regulating cell growth, survival, protein synthesis and in regulating certain hormones, including insulin. The gene is located on the long arm of chromosome 5 at position 33.1. The mutation of this gene can cause glioblastoma, endometrial cancer, and less common colon, breast and ovary tumour.


The TGFBR2 gene encodes the protein TGFBR2 (transforming growth factor beta receptor type 2). This gene -by expressing the TGFRB2 protein- plays a role in the cell growth and division. Mutation of the gene can cause tumour, located in several places of the human body, including colon cancer.

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