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Transforming cancer care and prevention

There are many different applications of genetic testing in the detection and care of cancer. Let us help you select the most appropriate to improve the treatment of your patients.


Medicine is benefiting from a lot of research on the genetics of many different cancers. Now we understand much better oncogenetic cancer, however, there is still much to learn; The information below is just a sample of gene-specific information that can be evaluated to improve clinical care and patient outcome.


Genetics of hereditary cancer


Certain mutations result in an increased risk of hereditary cancer and lead to the development of many cancers, including breast, ovarian, colorectal, bowel, uterus, prostate, pancreas, kidney, liver and melanoma.

Breast cancer: it is estimated that between 5% and 10% of all breast cancers can be directly attributed to hereditary genetic mutations1,2,3. Hereditary breast cancers tend to develop earlier in life than sporadic cases, and new primary tumors are more likely to develop in both breasts.

The BRCA1 and BRCA2 mutations are the most common causes of hereditary breast and ovarian cancers, but other genes are also associated with hereditary malignancies. For example, mutations in genes involved in the repair of double-stranded DNA breaks, such as ATM, BRIP1, CHEK2, PALB2, and RAD51D, represent additional mechanisms of hereditary carcinogenesis. All these genes are tumor suppressor genes that in one way or another inhibit cell proliferation.

Colorectal cancer: Approximately 30% of colorectal cancers are familial4, a subset of which has a significant genetic cause. Lynch syndrome is the most common form of hereditary CRC, but additional cancer syndromes are also associated with an increased risk of CRC, such as familial adenomatous polyposis (FAP), polyposis associated with MYH (MAP), and juvenile polyposis (SPJ). Lynch syndrome, also known as hereditary nonpolyposis colon cancer (HNPCC), is caused by variants in the MLH1, MSH2, MSH6, and PMS2 genes. Patients have an increased risk of developing bowel cancer (accounting for 2 to 5% of bowel cancers 4) and also cancer of the stomach, small intestine, gallbladder, uterus and ovary in women.

FAP and MAP are caused by variants in the APC and MYH genes respectively. They are rare diseases that cause 1% of bowel cancers4 due to the growth of hundreds of non-cancerous polyps that develop in the intestine at a young age and become cancerous over time.

Kidney cancer: Kidney cancer is more common in older patients with a positive family history. There are a number of inherited conditions that increase the risk of developing kidney cancer, including Birt-Hogg-Dubé syndrome (BHD), caused by mutations in the FLCN gene, von Hippel-Lindau disease caused by mutations in the VHL gene, and others.


Genetics of somatic cancer


Lung cancer is the most common cancer that causes more deaths than combined colorectal, breast and prostate cancers5. However, the incidence and mortality of lung cancer are high worldwide, accounting for 1.8 million patients and 1.6 million deaths in 20126. However, the risk of lung cancer depends to a large extent of environmental and other factors (smoking, exposure to toxic chemicals, family history) the sequencing of specific genes has identified somatic mutations associated with lung cancer in EGFR, KRAS, TP53 and other genes, which have an influence on the therapy and prognosis.


Acute myeloid leukemia (AML) is an aggressive malignant neoplasm of the bone marrow of myeloid precursor cells that blocks normal differentiation and maturation and increases proliferation. Malignant cells replace normal bone marrow, causing a decrease in red blood cells and platelets, and symptomatic bleeding and bruising, fatigue and increased risk of infection due to the lack of normal white blood cells. AML is one of the most common leukemias in adults (approximately 25% of all leukemias in adults in the western world), 7 with a general survival of five to 40 years in young patients and less than 10% in the elderly8. Targeted sequencing has identified recurrent mutations associated with AML in FLT3, NPM1, KIT, CEBPA, TET2 and other genes.8

Breast / ovarian cancer is one of the most common cancers and affects approximately 12% of women in the general population9. The identification of somatic mutations in the BRCA1 / 2 genes in patients affected with breast / ovarian cancer indicates whether the patient is a candidate for a specific targeted therapy.


Colorectal cancer (CRC) is the third most frequently diagnosed cancer in the world, with a cumulative lifetime risk of malignancy.

The symptoms are related to a genetic cause.

Oncogenes and tumor suppressor genes encode proteins that control the strategic checkpoints of cell proliferation and differentiation. Mutations in these genes can deregulate these checkpoints, giving rise to immortal cells capable of preventing apoptosis, of proliferating, of invading the surrounding tissue and of metastasizing to distant organs and tissues.


We must distinguish two types of genetic variants. Germline mutations (hereditary) that are present in every cell of the body and can be transmitted to the next generation. Here, genetic testing can provide early detection of a hereditary tumor predisposition and allow individualized cancer screening to reduce the risk of cancer.


Somatic mutations (acquired) occur only in the development of cancerous cells / tissues and, therefore, are not hereditary. Variants affect all genes, including those that, after mutation, will induce specific tumor behavior. The detection of genetic variants or mutation within a particular sample increases the understanding of the behavior of the tumor and, therefore, is the basis of an individualized therapy against cancer with a better evaluation of diagnosis, prognosis and therapy.

Reasons for Reference


  • Affected individuals


  • Non-affected individuals with a positive family history of oncogenetic disease.

Diagnostic strategy


For hereditary cancer syndromes, the identification of a pathogenic variant can confirm a genetic diagnosis with great impact on the health of patients. Tests must be performed for sequence variants, as well as for copy number variants. For a more complete interpretation of the results of the analysis and the phenotype, complete clinical information is essential. A complete medical report includes a tailor-made diagnostic strategy, recommendations and differential diagnosis, if applicable. For somatic analysis, clinical information with information on the symptoms of the disease and the results of tumor biopsies, staging and therapies initiated are important. A complete medical report that includes the results of the analysis and its correct interpretation based on clinical information provides the basis for a more personalized diagnostic and therapeutic strategy.


What can DIPLOIDE GENETICS do for you and your patients?


DIPLOID GENETICS has identified genetic variants associated with oncological diseases in more than 250 different genes.


DIPLOIDE GENETICS has a wide range of tests and knowledge available to improve the diagnosis, prognosis, selection and monitoring of cancer. We have specific services for hereditary and somatic cancer, and numerous cancer-specific genetic panels available, such as DIPCANCER®, a specially designed panel related to cancer risk. We offer genetic testing for the most common types of diseases, such as breast and colon cancer, and hundreds of single gene tests through complete exome (WES) and whole genome sequencing (WGS).


DIPLOIDE GENETICS is a world leader in the diagnosis of rare genetic diseases and has received multiple international accreditations (ISO, CAP and CLIA) that confirm the highest standards for diagnostic tests and reports. Our combined experience with our scientific experience and our medical competence has allowed the application of cutting-edge technologies and the development of a unique multiethnic mutation database.


In DIPLOIDE GENETICS, the world's largest mutations database for rare diseases, 57% of which are composed of unpublished variants, we have carefully created and documented all the variants that have clinical relevance to the related symptoms that support the accurate diagnosis of an oncological disease.

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