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EUROGENETIC
Our oncology tests are dedicated to the study of germline mutations, present in all cells of the individual and transmissible to offspring, believed to be strongly involved in the development of tumors with a hereditary component.
The mutations sought are mutations located on genes that encode proteins with a tumor suppressor role (negative control of cell proliferation, DNA repair and regulation of apoptosis) and that limit their biological function.
Carriers of these mutations have a greater predisposition to develop tumors later in life.
Following daily exposure to mutagenic factors, tumor suppressor activities could be compromised, more favorably than in the general population, leaving free to act any oncogenes (function of cell cycle progression and cell proliferation) deriving from proto-oncogenes, also activated by exposure to mutagenic agents.
OUR TESTS
Breast Cancer:
analysis of ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, MRE11A, MUTYH, NBN, NF1, PALB2, PTEN, RAD50, RAD51C, RAD51D, STK11, TP53 genes.
Ovarian/Uterine Cancer:
analysis of the BRCA1, BRCA2, BRIP1, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53 genes.
Colorectal Cancer:
Gene Analysis
APC, BMPR1A, CDH1, CHEK2, EPCAM, GREM1, MLH1, MSH2, MSH6, MUTYH, PMS1, PMS2, POLD1, PTEN, SMAD4, STK11,
TP53.
Gastric Cancer:
Gene Analysis
APC, BMPR1A, CDH1, EPCAM, MLH1, MSH2, MSH6, PMS2, STK11, SMAD4, TP53.
Pancreatic Cancer:
Gene Analysis
APC, ATM, BMPR1A, BRCA1, BRCA2, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, STK11, TP53.
Prostate Cancer:
Gene Analysis
ATM, BRCA1, BRCA2, CHEK2, EPCAM, HOXB13, MLH1, MSH2, MSH6, NBN, PALB2, PMS2, RAD51D, TP53.
Skin Cancer (Melanoma):
Gene Analysis
BAP1, BRCA2, CDK4, CDKN2A, MITF, PTEN, RB1, TP53.
Brain Tumor:
Gene Analysis
AIP, ALK, APC, CDKN1B, CDKN2A, DICER1,
MEN1, MLH1, MSH2, MSH6, NBN, NF1, NF2, PHOX2B, PMS2, PRKAR1A, PTCH1, PTEN, SMARCA4, SMARCB1, SMARCE1, SUFU, TP53, TSC1, TSC2, VHL.
Kidney Cancer: Gene Analysis
BAP1, EPCAM, FH, FLCN, MET, MITF, MLH1, MSH2,
MSH6, PMS2, PTEN, SDHA, SDHB, SDHC, SDHD, TP53, TSC1, TSC2, VHL.
Pheochromocytoma / Paraganglioma: Gene Analysis
FH, MAX, MEN1, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL.
This test allows patients to know, through
analyzing their DNA, if you are predisposed to developing a particular type of tumor.
The test, therefore, allows us to identify people at risk of developing a specific neoplasm.
LIQUID BIOPSY
Designed for the study of somatic mutations of free circulating tumor DNA (ctDNA) in peripheral blood in cancer patients, or at high risk of becoming cancer patients.
The study of ctDNA, also called liquid biopsy, is the most innovative tool that the oncologist can use today.
Through the Liquid test, the biopsy, the clinician can correctly refine the diagnosis and prognosis of the cancer patient, and can diagnose early in the high-risk patient the presence of somatic mutations which, if they vary significantly over time, can be an indication of the presence of tumor foci.
Liquid does not replace tissue biopsy, which remains the gold standard for the first morphological/histological diagnosis and as the main source of DNA from which to study the genomic profile of the pathology, but it confirms and deepens the information obtained.
Liquid tests are available in Monitor or Scan versions with different levels of depth
Scan: 15, 23 and 50 genes.
Monitor: 15, 23, 50 genes, Breast, Colon and Lung.
"NOT IF, BUT WHEN"
Cancer: Today's Treatments, Tomorrow's Treatments
Prof. Maurizio SCALTRITI
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HOW THE TESTS ARE PERFORMED
The test is performed by taking a blood sample.
Through a complex laboratory analysis, DNA is isolated from nucleated cells and amplified
using PCR technique.
Subsequently, through a technological process
advanced massively parallel sequencing (MPS), which employs Next Generation Sequencing (NGS) techniques using ILLUMINA sequencers, 81 genes (exons and adjacent intronic regions, ± 5 nucleotides) are completely sequenced at high read depth.
The gene sequences obtained are analyzed through an advanced bioinformatics analysis, to determine the presence of any mutations in the genes under examination.
