Do you know which genes are altered in each cancer type?

    Do you want to know if you can benefit from genetic testing? Here are some examples of cancer types that may benefit from genetic testing and its implications both therapeutically as hereditary. If you do not find your type of tumor or have any questions, please fill out our form to study your case and see how we can help.

  • Breast cancer
    • Breast cancer is the most common malignant tumor in women and originates in the tissue of the mammary gland, usually in the ducts of the nipple and the lobules. It can occur in both men and women, although in males the breast cancer is rare.

      How do genetics affect the treatment? Analysis of the tumor:

       

      There are many genetic alterations or mutations that are known to cause breast cancer, such as mutations in the genes HER2, ER, AKT1, FGR1, FGR2, TLE3, RRM1, PTEN, PIK3CA, TOP2A, PR, SPARC, BRCA1, BRCA2, cMET and AR*.

       

      For breast cancer there are numerous approved treatments to alterations present in the tumor, most are antibodies that attack only cancer cells, causing fewer side effects than chemotherapy and improving the quality of life of the patient. Some examples are: Lapatinib, Trastuzumab, Pertuzumab, Everolimus and Temsirolimus.

       

      The tests that may help you identify the molecular targets of the tumor are OncoDEEPProsigna (PAM50),  OncoSTRAT&GO, etc. depending on the stage and characteristics of your disease.

      How genetics affect the heritage? Blood analysis:

       

      There are several inherited mutations in genes which increase the risk of breast or ovarian cancer significantly such as BRCA1 or BRCA2 gene which cause approximately 20-25% of hereditary breast cancers. The rest may be caused by alterations in other genes such as CDH1, CHEK2, MSH2, MSH6, PTEN, TP53, STK11, PALB2, etc. Knowing these alterations enables you to take preventive and monitoring measures, to identify other family members with risk of disease, etc.

       

      The tests that can help identify the inherited mutations are BioSeq Hereditary Breast/Ovarian Panel, BioSeq Hereditary High Risk Breast Panel, BioSeq Comprehensive Hereditary Panel, etc. A team of experts in Genetic Counseling will help you to choose the most appropriate test based on your family history.

  • Lung cancer
    • Lung cancer originates in the cells lining the respiratory tract. The two most important types of lung cancer are Small Cell Lung Cancer (SCLC) and Non-Small Cell Lung Cancer (NSCLC).

      How do genetics affect the treatment? Analysis of the tumor:

       

      EGFR mutations are found in 10-50% of patients with advanced Non-Small lung cancer (NSCLC). The mutations in the KRAS and ERCC1 genes and fusion proteins involving the ALK gene are also associated with NSCLC. Other related biomarkers known are RRM1, SPARC, TUBB3, BRAF, PI3KCA, TLE3, TOPO1, PTEN, ROS1, TS, Pgp, Cmet and BRCA1*.

       

      An example of targeted therapy to NSCLC is Crizotinib. The drug is indicated for patients who have a rearrangement in the ALK gene. For lung cancer there are many other targeted therapy to genetic alterations such as Bevacizumab, Erlotinib, Gefitinib or Ceritinib.

       

      The tests that may help you to identify the molecular targets of the tumor are OncoDEEPOncoSTRAT&GO, etc. depending on the stage and characteristics of your disease.

  • Colorectal cancer
    • Colorectal cancer is one of the most common tumors worldwide and may originate in the colon or the rectum. Colorectal cancer usually starts from polyps. A polyp is a foreign growth with the potential to become cancerous. That is why early detection measures are important.

      How do genetics affect the treatment? Analysis of the tumor:

       

      It is estimated that 19% of colorectal tumors have EGFR overexpressed due to mutations in the gene. Moreover, KRAS mutation is predictive of a very poor response to EGFR-targeted drugs (panitumumab and cetuximab) in colorectal cancer, so it is important to detect its presence before administering a drug that may be ineffective. There are many others alterations associated with the disease such as ERCC1, BRAF, PTEN, TOPO1, TS, PIK3CA, NRAS or c-Met and others *.

       

      Cetuximab and Panitumumab, monoclonal antibodies that specifically target the receptor of epidermal growth factor (EGFR), are examples of targeted therapies in colorectal cancer. Approximately 4 to 10% of colorectal cancers have mutations in the KRAS gene, which makes that these drugs are not effective. So there are other approved drugs like Avastin or Regorafenib.

       

      The tests that may help you to identify the molecular targets of the tumor are OncoDEEPOncotype DX®OncoSTRAT&GO, etc. depending on the stage and characteristics of your disease.

      How genetics affect the heritage? Blood analysis:

       

      The two most common inherited syndromes linked with colorectal cancers are familial adenomatous polyposis (FAP) and hereditary nonpolyposis colorectal cancer (HNPCC) or Lynch syndrome, although there are other less common syndromes that increase the risk of colorectal cancer too. FAP is caused by mutations in the APC gene. HNPCC is caused by an inherited defect in the MLH1 gene or the MSH2 gene, though there are more genes involved. There are other mutations that increase your chance of developing this type of cancer as the BMPR1A, MSH6, PMS2, SMAD4, STK11 or EPCAM. Knowing these alterations allows you to take preventive and monitoring measures, identify family members at risk, etc.

       

      The tests that can help to identify the inherited mutations are BioSeq Hereditary GI/Colorectal Cancer Panel, BioSeq Hereditary High Risk Colorectal Cancer Panel, BioSeq Comprehensive Hereditary Cancer Panel, etc. A team of experts in Genetic Counseling will help you to choose the most appropiate test based on your family history.

  • Prostate cancer
    • The prostate cancer is one of the most frequent tumors in men and it is developed in one of the glandular organs of the male reproductive system called prostate. Most cases are slow growing but there is a certain percentage of patients suffering an aggressive type of this cancer. This percentage has a higher risk of spread from the prostate to other parts of the body, especially to the bones and lymph nodes causing metastasis.

      How do genetics affect the treatment? Analysis of the tumor::

       

      Prostate cancer, in many cases, have a little aggressive behavior so strategies following an active monitoring and surveillance are usually sufficient. However, in other cases, prostate cancer grows fast and is essential to employ a definitive treatment so it is important to assess the tumor aggressiveness as accurately as possible to determinate what is the most appropriate treatment strategy.

       

      We have the Prolaris® genomic study that can help you to figure out the aggressive of your tumor and to help the specialist to make a decision on which is the most appropriate therapeutic strategy.

      For more advanced stages is convenient to identify the alterations present in the tumor associated with sensitivity and resistance to different types of treatments (targeted, chemotherapies, immunotherapies, etc.). In this cases we recommend performing another kind of studies as OncoDEEPOncoSTRAT&GO, etc.

      How genetics affect the heritage? Blood analysis:

       

      The risk of prostate cancer is strongly influenced by the family history. Those men who have a first-degree relative (parent or sibling) diagnosed with prostate cancer are more likely to develop the disease.

       

      Several mutations in genes are known that if inherited, greatly increase the risk of prostate cancer such as mutations in BRCA1, BRCA2, CHEK2, NBN and TP53 genes , etc. Knowing these changes allows to take preventive and monitoring measures, to identify other family members at risk of developing the disease, etc.

       

      The tests that can help to identify the inherited mutations are BioSeq Hereditary Cancer Panel, BioSeq Comprehensive Hereditary Cancer Panel, etc. A team of experts in Genetic Counseling will help you to choose the most appropiate test based on your family history.

  • Melanoma
    • Melanoma is a type of cancer that in most cases originates in the skin, most frequently occurs on the trunk or extremities, but may also occur in other parts of the body such as the lining of the mouth, rectum or vagina, or choroid layer of the inside of the eye. When melanoma starts in the skin, the disease is called cutaneous melanoma. Risk factors for developing it include a family history of melanoma, excessive sun exposure, use of tanning booths, diseases that suppress the immune system, etc.

      How do genetics affect the treatment? Analysis of the tumor:

       

      It is estimated that approximately 40-60% of melanomas are carriers of a mutation in the BRAF gene. But other disease-causing mutations in genes GNA11, GNAQ, KIT, MEK1, NRAS,TLE3 or cMET among others* there have also been detected.

       

      For melanoma, there are several targeted treatments to mutations present in the tumor, such as Ipilimumab, Trametinib, Dabrafenib, Sunitinib or Vemurafenib.

       

      The tests that may help you to identify the molecular targets of the tumor are OncoDEEPOncoSTRAT&GO, etc. depending on the stage and characteristics of your disease.

      How genetics affect the heritage? Blood analysis:

       

      There are many genetic alterations or mutations that are known to cause hereditary melanoma, such as CDKN2A, CDK4 or TP53 and others. In some cases mutations in the BRCA2 gene have also identified and increase the risk of developing this type of cancer. Knowing these alterations allows you to take preventive and monitoring measures, identify family members at risk, etc.

       

      The tests that can help to identify the inherited mutations are BioSeq Hereditary Melanoma Panel, BioSeq Comprehensive Hereditary Cancer Panel, etc. A team of experts in Genetic Counseling will help you to choose the most appropiate test based on your family history.

  • Gynecologic: ovary, endometrium, uterus, etc.
    • Gynecologic cancers include several types of cancer depending on the part of the female reproductive system where they originate. The most common are the cervix, ovary, uterus, vagina or vulva and each has its own signs and symptoms.

      How do genetics affect the treatment? Analysis of the tumor:

       

      There are many biomarkers associated with the development of these cancers as PTEN, PIK3CA, PIK3R1, AKT, KRAS, FGFR2, EGFR and HER-2 genes*.

       

      Examples of targeted drugs to these mutations are Trastuzumab, which is indicated when there is an overexpression of HER2, EGFR inhibitor drugs as Erlotinib and Gefitinib or m-TOR inhibitors as Everolimus, Temsirolimus and Feforolimus, that have already proved helpful in cancer endometrial. There are also numerous drugs that are being tested in clinical trials as antiangiogenic drugs and inhibitors of the PARP enzyme as Niraparib.

       

      The tests that may help you to identify the molecular targets of the tumor are OncoDEEPOncoSTRAT&GO, etc. depending on the stage and characteristics of your disease.

      How genetics affect the heritage? Blood analysis:

       

      The risk of gynecologic cancers is directly correlated with abnormalities in the BRCA1 and BRCA2 genes. There are other genes that increase the chance of developing any of these diseases such as ATM, NBN, PALB2, PSM1, PSM2 MLH1, MSH2, MSH6 or CHECK2… Knowing these alterations allows you to take preventive and monitoring measures, identify family members at risk, etc.

       

      The tests that can help to identify the inherited mutations are BioSeq Hereditary Gynecologic cancer, BioSeq Hereditary Breast/Ovarian cancer Panel, BioSeq Comprehensive Hereditary Cancer Panel, etc. A team of experts in Genetic Counseling will help you to choose the most appropiate test based on your family history.

  • Leukemias and lymphomas
    • Leukemias and lymphomas are cancers of the blood cells (leukemia) and lymphoid organs (lymphoma). Leukemias are divided into acute and chronic. Acute leukemias occur in children and adults and are classified according to the type of cells affected, for example, lymphoblastic or myelogenous. Chronic leukemias occur mainly in adults and are divided mainly in chronic lymphatic leukemia and chronic myeloid leukemia. Lymphomas, also known as hematological solid tumors, are mainly divided into two groups: Hodgkin lymphoma and non-Hodgkin lymphoma.

      How do genetics affect the treatment? Analysis of the tumor:

       

      There are many genetic alterations involved in the development of these diseases. These are known as chromosomal aberrations (translocation BCR / ABL, Philadelphia chromosome …), mutations in the JAK2 gene, ALK, FLT3, KIT, etc. For example, mutations in the KIT gene allow knowing the response to Imatinib therapy is a target drug to tumors carriers the BCR/ABL translocation.

      As the Imatinib there are many other drugs targeting mutations in cancers such as Dasatinib, Nilotinib, Bosutinib, Rituximab or Ponatinib among others.

       

      Test to help you identify the molecular targets of your illness is BioSeq Leukemia/Lymphoma.

      How genetics affect the heritage? Blood analysis:

       

      Mutations in the ATM, BRCA2, BRIP1, CBL, CEBPA, RUNX1 and TP53 among others that may increase the chance of suffer lymphoma or leukemia hereditary genes are known. Knowing these alterations allows you to take preventive and monitoring measures, identify family members at risk, etc.

       

      The tests that can help to identify the inherited mutations are BioSeq Hereditary Leukemia/Lymphoma Cancer Panel, BioSeq Comprehensive Hereditary Cancer Panel, etc. A team of experts in Genetic Counseling will help you to choose the most appropiate test based on your family history.

  • Bladder
    • Bladder cancer is one of the most common tumors and originates in the urinary bladder. Bladder cancer is more common in men than in women.

      How do genetics affect the treatment? Analysis of the tumor:

       

      The development of bladder cancer is caused by genetic alterations, like all types of cancer. In this case, are mutations in EGFR, FGFR3, mTOR, PIK3CA, RAS and VEGF genes among others. Some examples of target drugs to these alterations are Sunitinib, Lapatinib, Erlotinib, Trastuzumab and Panitumumab.

       

      Tests to help you identify the molecular targets of your illness are OncoDEEPOncoSTRAT&GO, etc. depending on the stage and characteristics of your disease.

  • Sarcomas
    • Sarcomas are malignant tumors that occur in bone or soft tissues. They are relatively rare, about 1% of all cancers.

      Broadly, there are two groups, those that develop in the backbone and those that do it in the soft tissues such as adipose, muscle, nerve, fibrous tissues and blood vessels and deep skin tissue. Ewing’s sarcoma (a type of bone sarcoma) and gastrointestinal stromal tumors or GIST (a type of soft tissue sarcoma) have special characteristics. Therefore, these types of tumors are considered independent.

      How do genetics affect the treatment? Analysis of the tumor:

       

      There are many genetic alterations involved in the development of these diseases known as chromosomal abnormalities (EWS-FLI1 in Ewing’s tumor…) and mutations in genes such as KIT, PIK3CA, ALK, among others.

       

      Some examples of target drugs in sarcomas are Sunitinib or Sirolimus. Drugs such as Cixutumumab, PD0332991 and Ridaforolimus are in clinical trials.

       

      Tests to help you identify the molecular targets of your illness are OncoDEEPOncoSTRAT&GO, etc. depending on the stage and characteristics of your disease. Currently, new panels are also available intended for children with Ewing (for more info contact BioSequence).

  • Rare tumors
    • Rare cancers are generally classified in the group of rare diseases which is defined in the European Union as diseases with a prevalence of fewer than 5 cases out of a population of 10,000 and account for 20% of all cancers. Among the wide variability of rare tumors we can find neuroendocrine tumors, refractory thyroid, lymphoma, retinoblastoma eye, sarcomas, thymomas, melanomas, etc.

      The heterogeneity of rare tumors, with more than 1,000 variations, makes the diagnosis one of the main problems that patients and determines its curability. At present, there has been a significant progress in the knowledge of the pathology and molecular alterations that are at the origin of rare tumors, allowing patients to recieve targeted treatments directly to the molecular alteration that causes the tumor and not indiscriminately treatment with chemotherapy.

      How do genetics affect the treatment? Analysis of the tumor:

       

      Due to the heterogeneity of the rare tumors, there are many biomarkers associated with the development of these cancers, such as PTEN, PIK3CA, PIK3R1, AKT, KRAS, FGFR2, EGFR genes, among others.

       

      Examples of target of these mutations are EGFR inhibitors as Gefitinib and Erlotinib and PIK3CA or mTOR inhibitors as Everolimus and Temsirolimus. There are also numerous drugs that are being tested in clinical trials as antiangiogenic drugs and PARP inhibitors as Niraparib.

       

      Tests to help you identify the molecular targets of your illness are OncoDEEPOncoSTRAT&GO, etc. depending on the stage and characteristics of your disease.

      How genetics affect the heritage? Blood analysis:

       

      Mutations in several genes that may increase the likelihood of developing certain types of rare tumors are known. Knowing these alterations allows you to take preventive and monitoring measures, identify family members at risk, etc.

       

      The tests that can help to identify the inherited mutations are BioSeq Comprehensive Hereditary Cancer Panel, which is a panel that includes the most frequently involved genes in the inheritance of cancer. We also have some specific panels for rare tumors such as pheochromocytoma and paraganglioma (BioSeq Hereditary Para/Pheo Panel), some types of endocrine tumors (BioSeq Hereditary Endocrine Cancer Panel), etc A team of experts in Genetic counseling will help you to choose the most appropiate test based on your family history.

  • Carcinoma of Unknown Primary
    • Cancer of unknown origin affects 3-4% of patients and occurs in cases in which no identifiable primary tumor origin (the location of the body in which the cancer began to form), and only knows where it has spread. Physicians are facing a serious diagnostic problem that affects the choice of an appropriate treatment for the patient.

      How do genetics affect the treatment? Analysis of the tumor:

       

      For cases of unknown origin cancer we recommend performing studies that help identify the molecular targets of the tumor, and therefore to expand and select the best treatment options, such as OncoDEEPOncoSTRAT&GO, etc.


*The number of genes involved in the development of each type of cancer is increasing every day, thus all the research are focused on the discovery of these mutations that are revolutionizing and improving the diagnosis and treatment in oncology.
 

Do you want to know more about our services and BioSequence?

We will be happy to help you. please contact us by calling +34 961 829 423 or fill in our contact form.