Biomakers
PHYSICIANS

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

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.

Biomarkers are defined as an objectively measurable and assessable characteristic that work as indicators of normal biological processes, pathogenic processes or a pharmacological response to a therapeutic intervention.

Genomic biomarkers account for clinically relevant alterations in genes associated with cancer development and progression.

Genomic biomarker testing can be performed using pathology or molecular biology tools.

In cancer treatments, there are two genomes that can influence treatment decisions: the cancer patient's genome (germline genome) and the tumor genome (somatic genome).

Hereditary cancer is caused by an inherited genetic mutation. Typically, there is a recurring cancer pattern over two or three generations, such as several individuals diagnosed with the same type of cancer and individuals diagnosed with cancer much younger than average.

Sporadic cancer refers to cancer that occurs due to spontaneous mutations that accumulate over a person's lifetime. Sporadic cancer cannot be explained by a single cause. There are several factors, such as aging, lifestyle or environmental exposure, that may contribute to the development of sporadic cancer.

Our team of molecular biologists, bioinformaticians, pathologists, biotechnologists, oncologists, data scientists, and genomics specialists perform a comprehensive analysis of holistic genomic profiling reports in order to assist physicians in the interpretation of the genomic variants found and in the search for therapeutic options and clinical trials for patient treatment.

Responsive image

Our technology

Equipment

Biomakers bases its genomic information production platform on internationally recognized standards and is capable of meeting its clients' demands with its own equipment achieving an optimal quality in the production of genomic data readings with efficient turnaround times.

Responsive image
Immunohistochemistry and FISH biomarker analyses
  • Ventana BenchMark ULTRA (Roche)
  • Dako Autostainer Link 48 (Agilent)
  • Fluorescence microscope (Leica)
Nucleic acid purification and quantitation
  • QIAcube (Qiagen)
  • NanoDrop 2000 (Thermo Fisher Scientific)
  • Qubit fluorometer (Invitrogen)
Biomarker analysis by real-time PCR and digital PCR
  • Cobas z 480 (Roche)
  • Rotor-Gene Q (Qiagen)
  • QX200 Droplet Digital PCR System (BioRad)
Biomarker analysis by next-generation sequencing (NGS)
  • Ion Chef (Thermo Fisher Scientific)
  • Ion S5 (Thermo Fisher Scientific)

Professional assistance available

Our multidisciplinary team includes professionals specialized in genomics, genetics, molecular biology, medicine, oncology, pathology, bioinformatics, among others.

Our certifications

Since 2015, we have a quality management system (QMS) certified according to ISO 9001:2015. This system allows us to ensure high levels of quality in the following processes:

  • Sample processing for anatomical pathology and molecular biology
  • Result analysis and interpretation
  • Genetic counseling
  • Research protocol design and development

The ISO 9001:2015 certification represents our commitment with quality at every stage of molecular analysis and our proactive search for improvements and innovations that set us apart in the local, national, and international market.

To ensure the quality of our assays, we perform annual external quality assessments organized by institutions such as the European Molecular Genetics Quality Network (EMQN), Genomics Quality Assessment (GenQA), Nordic Immunohistochemical Quality Control (NordiQC), and the College of American Pathologists (CAP).

International biomarker validations

Emon GenQA NordiQC College

Contact us

Argentina
Business hours

Monday through Friday 9:00 AM to 6:00 PM

Phone

+54 (11) 4823-0088 / 0800-345-1775

Address

Av. Pueyrredón 1777 Piso 8, Departamento B, Recoleta, Autonomous City of Buenos Aires. CP 1119.

E-mail

contacto@biomakers.net

Mexico
Business hours

Monday through Friday 8:00 AM to 5:00 PM

Phone

+52 55 67290851

Address

Blvd Adolfo López Mateos 3395 PB, Colonia Rincón del Pedregal, Delegación Tlalpan, CP 14120, Mexico City

E-mail

contacto@biomakers.net

Brazil
Business hours

Monday through Friday 8:00 AM to 5:00 PM

Phone

+55 11 2925-5055

Address

Rua Itapeva, 574, Conjunto 41B e 71B

E-mail

contacto@biomakers.net

Cancer y biomarcadores medicos