Biomakers
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Cancer and biomarkers



Tumor panel tests

Pathology: Complete cancer panel

Biomarkers analyzed:

Hotspot genes (35 genes):

AKT1, ALK, AR, BRAF, CDK4, CTNNB1, DDR2, EGFR, ERBB2, ERBB3, ERBB4, ESR1, FGFR2, FGFR3, GNA11, GNAQ, HRAS, IDH1, IDH2, JAK1, JAK2, JAK3, KIT, KRAS, MAP2K1, MAP2K2, MET, MTOR, NRAS, PDGFRA, PIK3CA, RAF1, RET, ROS1, SMO

Copy number genes (19 genes):

AKT1, ALK, AR, BRAF, CCND1, CDK4, CDK6, EGFR, ERBB2, FGFR1, FGFR2, FGFR3, FGFR4, KIT, KRAS, MET, MYC, MYCN, PDGFRA, PIK3CA

Gene fusions (23 genes):

ABL1, AKT3, ALK, AXL, BRAF, EGFR, ERBB2, ERG, ETV1, ETV4, ETV5, FGFR1, FGFR2, FGFR3, MET, NTRK1, NTRK2, NTRK3, PDGFRA, PPARG, RAF1, RET, ROS1

Methodology: NGS

Type of sample: Biopsy block

Test Pathology Biomarkers analyzed Methodology Type of sample
Lung ALK - EGFR - ROS1 - PDL1 - BRAF EGFR, BRAF: Real-time PCR. ALK, PDL1: immunohistochemistry. ROS1: immunohistochemistry and FISH confirmation Biopsy block
CCR KRAS, NRAS, BRAF Real-time PCR Biopsy block
Lynch syndrome Mlh1, Msh2, Msh6, Pms2. IHC Biopsy block
GIST Ckit, Pdgfr Sanger syndrome Biopsy block
Breast cancer Estrogen, progesterone, HER2, ki67 IHC Biopsy block
Cancer SNVs, indels, CNVs in 70 genes. MSI. NGS Peripheral blood
Cancer MSI. TMB. SNVs, indels, CNVs in 342 genes. NGS FFPE tissue
Cancer MSI. TMB. SNVs, indels, CNVs in >400 genes. NGS Peripheral blood
Sarcoma - IHC - FISH Biopsy block
Glioblastoma MGMT, GFAP, Ki67, IDH, ATRX, 1p/19q IHC - FISH Biopsy block
Cancer (SNV 88 genes + fusion 3 genes) NGS FFPE tissue
Cancer (SNV 170 genes + fusion 25 genes) NGS FFPE tissue
Breast cancer APC, APOBEC3A, APOBEC3B, APOBEC3G, ATM, ATR, BARD1, BLM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, FAM175A, FANCC, FANCM, GJB1, GJB2, MEN1, MFN2, MLH1, MPZ, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMP22, PMS2, POLD1, POLE, POU3F4, PRPF31, PRPH2, PTEN, RAD51B, RAD51C, RAD51D, RB1, RECQL, RET, RHO, RINT1, RP1, RPGR, SLC26A4, STK11, TECTA, TP53, USH2A, VHL NGS FFPE tissue or peripheral blood
Inherited diseases AIP, ALK, APC, ATM, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, DICER1, EPCAM, FANCC, FH, FLCN, GALNT12, GREM1, HOXB13, MAX, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PHOX2B, PMS2, POLD1, POLE, POT1, PRKAR1A, PTCH1, PTEN, RAD50, RAD51C, RAD51D, RB1, RECQL, RET, SCG5, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL, WT1 NGS Peripheral blood


Biomarker tests

At BIOMAKERS, we are convinced that these complex tests will help to achieve great breakthroughs in treatments and patient care, making them more accurate, safe, and efficient, completely improving people's lives.

Biomarker Alteration studied Analysis methodology Type of sample
SNV + Indels in exons 18, 19, 20, and 21 Sanger sequencing FFPE tissue/Cytology smear
p.T790M Deletions in exon 19 p.L858R, p.L861Q, p.G719A, p.G719C, p.G719S, p.S768I, Insertions in exon 20 Real-time PCR FFPE tissue/Cytology smear
p.G719X (p.G719A, p.G719C, and p.G719S) Deletions in exon 19 p.S768I, p.T790M, Insertions in exon 20 p.L858R, p.L861Q cobas® EGFR Mutation Test v2 FFPE tissue/Cytology smear/Peripheral blood (for circulating tumor DNA extraction)
p.T790M Deletions in exon 19 p.L858R Digital PCR Peripheral blood (for circulating tumor DNA extraction)
Fusions FISH FFPE tissue
Fusions/Overexpression Immunohistochemistry FFPE tissue
Mutations in exon 15 Sanger sequencing FFPE tissue/Cytology smear
Mutations in codon 600 Real-time PCR FFPE tissue/Cytology smear
Mutations in codon 600 Real-time PCR Peripheral blood (for circulating tumor DNA extraction)
SNVs + Indels in exon 20 Sanger sequencing FFPE tissue/Cytology smear
Overexpression Immunohistochemistry FFPE tissue
Fusions FISH FFPE tissue
SNVs + Indels in exons Sanger sequencing FFPE tissue/Cytology smear
Real-time PCR FFPE tissue/Cytology smear
Overexpression Immunohistochemistry FFPE tissue
Biomarker Alteration studied Analysis methodology Type of sample
Mutations in exons 2, 3, and 4 Sanger sequencing FFPE tissue/Cytology smear
Mutations in exons 2, 3, and 4 Real-time PCR FFPE tissue/Cytology smear
Mutations in exons 2, 3, and 4 Real-time PCR Peripheral blood (for circulating tumor DNA extraction)
Mutations in exons 2, 3, and 4 Sanger sequencing FFPE tissue/Cytology smear
Mutations in exons 2, 3, and 4 Real-time PCR FFPE tissue/Cytology smear
Mutations in exons 2, 3, and 4 Real-time PCR Peripheral blood (for circulating tumor DNA extraction)
Mutations in exon 15 Sanger sequencing FFPE tissue/Cytology smear
Mutations in codon 600 Real-time PCR FFPE tissue/Cytology smear
Mutations in codon 600 Real-time PCR Peripheral blood (for circulating tumor DNA extraction)
Mutations in exons 1, 4, 7, 9, and 20 Sanger sequencing FFPE tissue/Cytology smear
p.R88Q, pN345K, p.C420R, p.E542K, p.E545X, (p.E545A, p.E545D, p.E545G, p.E545K), p.Q546X (p.Q546E, p.Q546K, p.Q546L, p.Q546R), p.M1043I, p.H1047X (p.H1047L, p.H1047R, p.H1047Y), p.G1049R Sanger sequencing FFPE tissue/Cytology smear
Biomarker Alteration studied Analysis methodology Type of sample
SNVs, indels, CNV NGS Peripheral blood (for genomic DNA extraction)
SNVs, indels, CNV NGS FFPE tissue/Cytology smear
CNV MLPA Peripheral blood (for genomic DNA extraction)
Mutations in exons 1, 4, 7, 9, and 20 Real-time PCR FFPE tissue/Cytology smear
p.R88Q, pN345K, p.C420R, p.E542K, p.E545X, (p.E545A, p.E545D, p.E545G, p.E545K), p.Q546X (p.Q546E, p.Q546K, p.Q546L, p.Q546R), p.M1043I, p.H1047X (p.H1047L, p.H1047R, p.H1047Y), p.G1049R Sanger sequencing FFPE tissue/Cytology smear
Overexpression Immunohistochemistry FFPE tissue
Amplification FISH FFPE tissue
Overexpression Immunohistochemistry FFPE tissue
Overexpression Immunohistochemistry FFPE tissue
Overexpression Immunohistochemistry FFPE tissue
Overexpression Immunohistochemistry FFPE tissue
Overexpression Immunohistochemistry FFPE tissue
Biomarker Alteration studied Analysis methodology Type of sample
Mutations in exon 15 Sanger sequencing FFPE tissue/Cytology smear
Mutations in codon 600 Real-time PCR FFPE tissue/Cytology smear
Mutations in exons 2, 3, and 4 Sanger sequencing FFPE tissue/Cytology smear
Mutations in exons 2, 3, and 4 Real-time PCR FFPE tissue/Cytology smear
Mutations in exons 2, 3, and 4 Sanger sequencing FFPE tissue/Cytology smear
Mutations in exons 2, 3, and 4 Real-time PCR FFPE tissue/Cytology smear
Overexpression Immunohistochemistry FFPE tissue
Biomarker Alteration studied Analysis methodology Type of sample
Mutations in exon 15 Sanger sequencing FFPE tissue/Cytology smear
Mutations in codon 600 Real-time PCR FFPE tissue/Cytology smear
Mutations in exons 9, 11, 13, and 17 Sanger sequencing FFPE tissue/Cytology smear
Mutations in exons 2, 3, and 4 Sanger sequencing FFPE tissue/Cytology smear
Mutations in exons 2, 3, and 4 Real-time PCR FFPE tissue/Cytology smear
Biomarker Alteration studied Analysis methodology Type of sample
SNVs: p.R248C, p.S249C, p.G370C, p.Y373C Fusions: FGFR3:TACC3v1 and FGFR3:TACC3v3 therascreen® FGFR RGQ PCR Kit FFPE tissue
Biomarker Alteration studied Analysis methodology Type of sample
FISH FFPE tissue
Promoter methylation Methylation/Sanger sequencing FFPE tissue
FISH FFPE tissue
Overexpression Immunohistochemistry FFPE tissue
Overexpression Immunohistochemistry FFPE tissue
Overexpression Immunohistochemistry FFPE tissue
Overexpression Immunohistochemistry/Methylation/Sanger sequencing FFPE tissue
Biomarker Alteration studied Analysis methodology Type of sample
Mutations in exons 9, 11, 13, and 17 Sanger sequencing FFPE tissue/Cytology smear
Mutations in exons 12, 14, and 18 Sanger sequencing FFPE tissue/Cytology smear
Mutations in exon 15 Sanger sequencing FFPE tissue/Cytology smear
Mutations in codon 600 Real-time PCR FFPE tissue/Cytology smear
Biomarker Alteration studied Analysis methodology Type of sample
Overexpression Immunohistochemistry FFPE tissue
Overexpression Immunohistochemistry FFPE tissue
Overexpression Immunohistochemistry FFPE tissue
Overexpression Immunohistochemistry FFPE tissue
Biomarker Alteration studied Analysis methodology Type of sample
Lack of expression Immunohistochemistry FFPE tissue
Lack of expression Immunohistochemistry FFPE tissue
Lack of expression Immunohistochemistry FFPE tissue
Lack of expression Immunohistochemistry FFPE tissue
Lack of expression Immunohistochemistry FFPE tissue
Microsatellite instability BAT-25, BAT-26, NR-21, NR-24, and MONO-27 MSI Analysis System (Promega) FFPE tissue

Pathology: Complete cancer panel

Biomarkers analyzed:

OFA - Hotspot genes (35 genes):

AKT1, ALK, AR, BRAF, CDK4, CTNNB1, DDR2, EGFR, ERBB2, ERBB3, ERBB4, ESR1, FGFR2, FGFR3, GNA11, GNAQ, HRAS, IDH1, IDH2, JAK1, JAK2, JAK3, KIT, KRAS, MAP2K1, MAP2K2, MET, MTOR, NRAS, PDGFRA, PIK3CA, RAF1, RET, ROS1, SMO

Copy number genes (19 genes):

AKT1, ALK, AR, BRAF, CCND1, CDK4, CDK6, EGFR, ERBB2, FGFR1, FGFR2, FGFR3, FGFR4, KIT, KRAS, MET, MYC, MYCN, PDGFRA, PIK3CA

Gene fusions (23 genes):

ABL1, AKT3, ALK, AXL, BRAF, EGFR, ERBB2, ERG, ETV1, ETV4, ETV5, FGFR1, FGFR2, FGFR3, MET, NTRK1, NTRK2, NTRK3, PDGFRA, PPARG, RAF1, RET, ROS1

Methodology: NGS

Type of sample: Biopsy block

Biomarker Alteration studied Analysis methodology Type of sample
SNVs, indels, CNVs in 342 genes. MSI. TMB NGS FFPE tissue
SNVs, indels, CNVs in 70 genes. MSI. NGS Peripheral blood (for circulating tumor DNA extraction)
SNVs, indels, CNVs in >400 genes. MSI. TMB NGS Peripheral blood (for genomic DNA extraction)
APC, APOBEC3A, APOBEC3B, APOBEC3G, ATM, ATR, BARD1, BLM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, FAM175A, FANCC, FANCM, GJB1, GJB2, MEN1, MFN2, MLH1, MPZ, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMP22, PMS2, POLD1, POLE, POU3F4, PRPF31, PRPH2, PTEN, RAD51B, RAD51C, RAD51D, RB1, RECQL, RET, RHO, RINT1, RP1, RPGR, SLC26A4, STK11, TECTA, TP53, USH2A, VHL NGS Peripheral blood (for genomic DNA extraction)/FFPE tissue
SNV/Indel 88 genes/Fusions (ALK, RET, ROS1) NGS FFPE tissue
SNV/Indel (170 genes)/Fusions (25 genes) NGS FFPE tissue
SNV/Indel (546 genes)/Fusions (48 genes) NGS FFPE tissue


Liquid biopsies

Test Pathology Biomarkers analyzed Methodology Type of sample
Lung EGFR qPCR (Cobas or ddPCR) Peripheral blood (PAXgene tube)
CCR RAS qPCR (Cobas or ddPCR) Peripheral blood (PAXgene tube)
Sensitivity to 5-Fu - Sensitivity to 5-Fu Peripheral blood
Cancer SNVs, indels, CNVs in 70 genes. MSI. NGS Peripheral blood
Inherited diseases AIP, ALK, APC, ATM, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, DICER1, EPCAM, FANCC, FH, FLCN, GALNT12, GREM1, HOXB13, MAX, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PHOX2B, PMS2, POLD1, POLE, POT1, PRKAR1A, PTCH1, PTEN, RAD50, RAD51C, RAD51D, RB1, RECQL, RET, SCG5, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL, WT1 NGS Peripheral blood
Breast cancer APC, APOBEC3A, APOBEC3B, APOBEC3G, ATM, ATR, BARD1, BLM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, FAM175A, FANCC, FANCM, GJB1, GJB2, MEN1, MFN2, MLH1, MPZ, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMP22, PMS2, POLD1, POLE, POU3F4, PRPF31, PRPH2, PTEN, RAD51B, RAD51C, RAD51D, RB1, RECQL, RET, RHO, RINT1, RP1, RPGR, SLC26A4, STK11, TECTA, TP53, USH2A, VHL NGS FFPE tissue or peripheral blood

Cancer and biomarkers

Personalized cancer treatment

Cancer is the name given to a collection of related diseases. In all types of cancer, some of the body cells begin to divide non-stop and spread to surrounding tissues.

Cancer can start almost anywhere in the body. Tumors can be malignant, which means they can spread or invade nearby tissues. As tumors grow, some tumor cells can break off and travel to distant parts of the body through the bloodstream or lymphatic system and lead to metastases, that is, new tumors apart from the original tumor.

Unlike malignant tumors, benign tumors do not spread or invade nearby tissues. Benign tumors do not spread or invade nearby tissues.

There are more than 100 types of cancer. Cancer types are usually named after the organs or tissues where they originate.

For example, lung cancer originates in lung cells, and brain cancer originates in brain cells.

Cancers can also be described by the type of cell that originated them, such as an epithelial cell or a squamous cell.

Biomarkers are defined as an objectively measured and assessed characteristic that works as an indicator of normal or pathological processes, or a pharmacological response to a therapeutic intervention (NIH).

The study and analysis of biomarkers is crucial for the correct selection of targeted therapies and immunotherapies in the treatment of cancer.

Between 5% and 10% of all cancers are hereditary, which means that a person may pass on changes (or mutations) in specific genes to their children. People who inherit one of these genetic changes will have a higher risk of developing cancer at some point in their lives. Genetic counseling can help people understand this risk.

Knowing your increased genetic risk allows you to discuss options with your doctor to create a personalized plan designed to prevent or detect cancer at an earlier, more treatable stage.

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Precision medicine

The aim of precision medicine in cancer is to define the medical treatment according to the genomic alterations found in patients' tumors.

Genomic alterations can be studied on tumor biopsies or liquid biopsies of the patient using pathology or molecular biology tools.

Currently, one of the pillars of cancer treatment is the use of targeted therapies, which require the testing of genomic biomarkers and measurable or identifiable genetic information that can be used to personalize the use of a drug. Targeted cancer therapies block the growth and spread of cancer by interfering with specific molecules involved in cancer growth, progression, and spread.

Immunotherapies based on the use of monoclonal antibodies which act as immune checkpoint inhibitors, such as PD-1/PD-L1 and CTLA-4, have revolutionized cancer treatment.

The analysis of molecular biology biomarkers, such as microsatellite instability (MSI) and tumor mutational burden (TMB), and of pathologies, such as the expression of PD-L1 in the tumor, makes it possible to study biomarkers for a correct screening of patients to treat them with immunotherapies.

At Biomakers, we are committed to providing top-quality genetic and molecular diagnoses, allowing thousands of patients to be treated with the best available therapies, optimizing result delivery times, using technologies that ensure the highest level of sensitivity and reliability, and helping patients live longer and improve their quality of life.

Biomakers also develops activities that promote the creation and design of new increasingly personalized drugs that will allow millions of patients to benefit from and obtain better therapeutic results.

Test my genetic biomarkers

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Which biomarkers do we test?

Your doctor may request the analysis of single genes, multigenic panels or proteins whose alterations make it possible to understand the specific characteristics of the tumor and predict its behavior under certain therapies, as well as to diagnose hereditary diseases that increase the incidence of tumors.

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How does it work?

Molecular analyses may be requested by your doctor. We will take care of collecting all the necessary documents and biological samples to conduct the study. The biological sample will depend on the biomarker to be analyzed and may range from a small sample of tumor tissue to a blood or saliva sample. Once we have the result, we will send a complete and easily understandable report to your doctor so that they can decide on the best available therapy or clinical action at the right time.