ONCOPRO TMB & MSI PROFILE - Lal PathLabs
Transcript of ONCOPRO TMB & MSI PROFILE - Lal PathLabs
Name : DUMMY N210 Collected : 29/07/2020 Lab No. : 153672450 Age: 35 years Gender: Male Received : 29/07/2020 Status : F Ref By : UNKNOWN Reported : 01/08/2020
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CLINICAL INDICATION Breast Cancer
GENOMIC HIGHLIGHTS
Pathways driving cancer
Cell cycle control pathway
Beta catenin/ Wnt signaling pathway
DNA damage/ repair pathway
DNA mismatch repair pathway
Receptor tyrosine kinase pathway
Driver mutations BRCA2, TP53, APC, POLE, PMS2, BAP1, NTRK1,
STK11 and NF1 genes
Gene variants with therapy BRCA2 (A2513E) and TP53 (C238F)
Tumor Mutation Burden (TMB) Low TMB score, which is associated with better response
rate with immune-checkpoint inhibitor.
Microsatellite Instability (MSI)
MSI STABLE, which represents phenotypic evidence that DNA
mismatch repair (MMR) is functioning normally.
Clinically actionable mutation We found FDA-approved therapies with the drugs, Olaparib and
Bevacizumab, as maintenance treatment for Ovarian cancer.
Clinical trial
We found a clinical trial investigating the action of high- dose
alkylating chemotherapy in patients with oligo- metastatic breast
cancer harboring homologous recombination deficiency.
ONCOPRO TMB & MSI PROFILE
No clinically actionable mutations or driver mutations identified
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IMPLICATION TO IMMUNOTHERAPY
VARIANTS WITH CLINICALLY RELEVANT THERAPIES
Summary of Relevant Therapies in same cancer type
Gene Therapy Evidence Reference
BRCA2(A2513E) Carboplatin, Thiotepa, and Cyclophosphamide Late trials NCT01646034
Summary of Relevant Therapies in other cancer types
Gene Therapy Cancer type Evidence Reference
BRCA2
(A2513E)
Olaparib Ovarian cancer FDA FDA guidelines
Olaparib; Bevacizumab Ovarian cancer FDA FDA guidelines
TP53
(C238F)
Olaparib; Adavosertib Ovarian cancer Early trials NCT02576444
Cetuximab Colorectal Carcinoma Late trials NCT02942706
Pembrolizumab Gastro-esophageal Junction
Adenocarcinoma
Early trials NCT02589496
Adavosertib; Paclitaxel Early trials NCT02448329
Tumor mutational burden Tumor mutational burden (TMB) is a measure of the mutation load in a tumor sample. TMB for this tumor sample is determined to fall in the Low TMB category. High TMB is associated with production of more neo-antigens which may be recognized by the immune system and inciting an anti-tumor response. High TMB is associated with better response rate with immune-checkpoint inhibitor
Microsatellite Instability
Microsatellite Instability (MSI) refers to a type of genomic instability in tumor tissue caused by the failure of the DNA mismatch repair system to repair errors during DNA replication. This process results in accumulation of various mutations including alterations in the length of small repetitive microsatellite sequences. MSI for this tumor sample is found to fall in the MSI-Stable category.
Name : DUMMY N210 Collected : 29/07/2020 Lab No. : 153672450 Age: 35 years Gender: Male Received : 29/07/2020 Status : F Ref By : UNKNOWN Reported : 01/08/2020
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CLINICAL TRIAL We found a clinical trial investigating the effect of high-dose alkylating chemotherapy compared with
standard chemotherapy as part of a multimodality treatment approach in patients with oligo-metastatic breast cancer harboring homologous recombination deficiency.
These high- alkylating chemotherapy regimens contain potent inducers of DNA double-strand breaks (DSB), which are highly effective in tumors with an inadequate DNA repair system. The tumor suppressor genes BRCA1 and BRCA2 are involved in the repair of DNA DSB via homologous recombination. When this mechanism is inactivated, tumor cells rely on less adequate repair mechanisms. This is called homologous recombination deficiency (HRD) and causes genome instability and consequently apoptosis of tumor cells. Hence, targeting BRCA2 mutation with an altered chemotherapy regime is recommended to treat breast cancer.
Name : DUMMY N210 Collected : 29/07/2020 Lab No. : 153672450 Age: 35 years Gender: Male Received : 29/07/2020 Status : F Ref By : UNKNOWN Reported : 01/08/2020
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CLINICAL TRIAL
Study Title
High-dose Alkylating Chemotherapy in Oligo-metastatic Breast Cancer Harboring Homologous
Recombination Deficiency
Brief Summary
This study investigates the effect of high-dose alkylating chemotherapy compared with standard
chemotherapy as part of a multimodality treatment approach in patients with oligo-metastatic breast
cancer harboring homologous recombination deficiency.
Study phase Phase 3
Condition
Breast cancer
NCT Number NCT01646034
Intervention
Experimental: intensified alkylating chemotherapy
a course chemotherapy with high dose cyclophosphamide, G-CSF and peripheral blood progenitor cell (PBPC) harvest followed by tandem intermediate-dose alkylating therapy (miniCTC, carboplatin 800 mg/m2, thiotepa 240 mg/m2, and cyclophosphamide 3000 mg/m2) with PBPC-reinfusion.
Intervention: Drug: carboplatin, thiotepa, and cyclophosphamide
Active Comparator: three cycles of chemotherapy
three cycles of chemotherapy depending on previously received agents
chemotherapy naïve;three cycles of docetaxel, doxorubicin, and cyclophosphamide previously received anthracyclines without taxanes;three cycles of carboplatin and paclitaxel previously received anthracyclines and taxanes;three cycles of carboplatin and gemcitabine
Intervention: Drug: chemotherapy (docetaxel, doxorubicin, cyclofosfamide, carboplatin, paclitaxel, gemcitabine)
Last updated July 2, 2018
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RELEVANT THERAPIES IN SAME CANCER TYPE
BRCA2 – Breast cancer 2
Variant details
Drug details –
Carboplatin, Thiotepa, and Cyclophosphamide
This study investigates the effect of high-dose alkylating chemotherapy compared with standard chemotherapy as part of a multimodality treatment approach in patients with oligo-metastatic breast cancer harboring homologous recombination deficiency.
Studies have shown that patients with high-risk breast cancer and a BRCA1- or BRCA2-like profile derive important benefit from high-dose, alkylating chemotherapy in comparison to conventional chemotherapy (hazard ratio (HR) for overall survival: 0.19, 95% confidence interval (CI): 0.08 to 0.48). It is suggested that selecting oligo-metastatic patients based on HRD for high-dose chemotherapy can improve outcome for more patients.
BRCA2 – Breast cancer 2
Variant details Gene Genomic alteration Impact Mutation ID Clinical significance
BRCA2 chr13:g.32930667C>A,p.A2513E Missense rs1060502401 Likely pathogenic
Drug Details –
Olaparib
Olaparib is a small molecule inhibitor of the nuclear enzyme poly (ADP-ribose) polymerase (PARP) with potential
chemosensitizing, radiosensitizing, and antineoplastic activities. It selectively binds to and inhibits PARP, inhibiting
PARP-mediated repair of single strand DNA breaks; PARP inhibition may enhance the cytotoxicity of DNA-
damaging agents and may reverse tumor cell chemoresistance and radioresistance. PARP catalyzes post-
translational ADP-ribosylation of nuclear proteins and can be activated by single-stranded DNA breaks.
Gene Genomic alteration Impact Mutation ID Clinical significance
BRCA2 chr13:g.32930667C>A,p.A2513E Missense rs1060502401 Likely pathogenic
Name : DUMMY N210 Collected : 29/07/2020 Lab No. : 153672450 Age: 35 years Gender: Male Received : 29/07/2020 Status : F Ref By : UNKNOWN Reported : 01/08/2020
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On December 19, 2018, the Food and Drug Administration approved olaparib (LYNPARZA®, AstraZeneca
Pharmaceuticals LP) for the maintenance treatment of adult patients with deleterious or suspected deleterious
germline or somatic BRCA-mutated (gBRCAm or sBRCAm) advanced epithelial ovarian, fallopian tube or primary
peritoneal cancer who are in complete or partial response to first-line platinum-based chemotherapy.
https://www.fda.gov/drugs/fda-approved-olaparib-lynparza-astrazeneca-pharmaceuticals-lp- maintenance-
treatment-adult-patients
Olaparib; Bevacizumab
Olaparib is a small molecule inhibitor of the nuclear enzyme poly (ADP-ribose) polymerase (PARP) with potential
chemosensitizing, radiosensitizing, and antineoplastic activities.
On May 8, 2020, the Food and Drug Administration expanded the indication of olaparib (LYNPARZA, AstraZeneca
Pharmaceuticals, LP) to include its combination with bevacizumab for first-line maintenance treatment of adult
patients with advanced epithelial ovarian, fallopian tube, or primary peritoneal cancer who are in complete or
partial response to first-line platinum-based chemotherapy and whose cancer is associated with homologous
recombination deficiency positive status defined by either a deleterious or suspected deleterious BRCA mutation,
and/or genomic instability.
https://www.fda.gov/drugs/drug-approvals-and-databases/fda-approves-olaparib-plus-bevacizumab- maintenance-
treatment-ovarian-fallopian-tube-or-primary
TP53 – Tumor suppressor protein 53
Variant details
Gene Genomic alteration Impact Mutation ID Clinical significance
TP53 chr17:g.7577568C>A,p.C238F Missense rs730882005 Pathogenic
Drug Details -
Olaparib and Adavosertib
Olaparib (AZD-2281, MK-7339 trade name Lynparza) is an FDA-approved targeted therapy for cancer. It is a PARP inhibitor, inhibiting poly ADP ribose polymerase (PARP), an enzyme involved in DNA repair. Adavosertib (AZD1775) is a first-in-class, potent, and selective inhibitor of WEE1 with proof of chemo- potentiation in p53-deficient tumors in preclinical models. (Chen, Dongshao, 2018)
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Given that PARP inhibition by olaparib results in DNA double-strand breaks in S phase, it is hypothesized that combined Wee1 kinase and PARP inhibition could induce tumor cell death. Remarkable synergy was observed using an AZD1775/olaparib combination in small-cell lung cancer (SCLC) xenograft models (O’Connor, EORTC 2015).
Cetuximab
This study aims at evaluating the effect of cetuximab monotherapy as maintenance treatment, versus continuation after 8 courses of
induction therapy with cetuximab plus standard chemotherapy regimen (FOLFIRI or mFOLFOX6)in metastatic colorectal cancer (mCRC) patients.
The maintenance treatments are continued until disease progression or untolerated toxicity. The aim of this study is to demonstrate that cetuximab monotherapy is non-inferior to continuation treatment, in those mCRC patients who responded to induction therapy (SD, PR, or CR), and carry biomarker-panels (KRAS, NRAS, BRAF, and PIK3CA) favor EGFR antibody. (Details of clinical trial on page 4) (NCT02942706)
Pembrolizumab
Pembrolizumab is a highly selective IgG4-kappa humanized monoclonal antibody against PD-1 receptor. Pembrolizumab targets and blocks a protein called PD-1 on the surface of certain immune cells called T-cells. Blocking PD-1 triggers the T-cells to find and kill cancer cells. Pembrolizumab is very well tolerated so many patients who have difficulty tolerating chemotherapy may be able to handle this medication,
In the phase Ib KEYNOTE-012 study which evaluated pembrolizumab monotherapy at 10 mg/kg ever 2 weeks in patients with gastric cancer were recently reported. Most patients had two or more prior lines of therapy. In the study, 41% of evaluable patients showed tumor shrinkage. The overall response rate in 39 patients were 31%.
Adavosertib, Paclitaxel
This study is a single arm, single center phase II study of AZD1775 in combination with paclitaxel in patients with
advanced gastric adenocarcinoma harboring TP53 mutation as a second-line chemotherapy.
AZD1775 is an inhibitor of Wee1, a protein tyrosine kinase. Wee1 phosphorylates and inhibits cyclin- dependent
kinases 1 (CDK1) and 2 (CDK2), and is involved in regulation of the intra-S and G2 cell cycle checkpoints.
In in-vitro and in-vivo preclinical models, AZD1775 selectively enhanced chemotherapy induced death of cells deficient in p53 signaling. Tumor context-specific sensitization to the DNA damaging agents, gemcitabine and platinum, was observed in TOV21G (ovarian carcinoma) cell lines matched for wild type and knock down of p53
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DRIVER MUTATIONS
GENES OVERVIEW
Variant details
TP53 – Tumor suppressor protein 53
TP53 is a well-known tumor suppressor gene and has various mechanisms of anticancer function and plays
significant role in maintenance of genome integrity, apoptosis, genomic stability, and inhibition of angiogenesis
etc. Loss of TP53 function allows deregulated survival of genetically impaired abnormal cells which can lead to
neoplastic conversion of later on. It is altered in 39.49% of all cancers with mutations in 32.77% of breast carcinoma patients.
Gene Genomic alteration Clinical Significance Variant Reference
BRCA2 chr13:g.32930667C>A,p.A2513E Likely pathogenic Missense rs1060502401
TP53 chr17:g.7577568C>A,p.C238F Pathogenic Missense rs730882005
APC chr5:112173704C>T,p.R805* Pathogenic Stop gained rs587779783
APC chr5:g.112170823G>A,p.R640Q VUS Missense rs1273594465
POLE chr12:g.133244124G>A,p.R762W VUS Missense rs1064794759
PMS2 chr7:g.6043354C>T,p.R107Q VUS Missense rs63751284
BAP1 chr3:g.52436326G>A,p.P723L VUS Missense rs1559584547
NTRK1 chr1:g.156834587C>T,p.R119C VUS Missense rs757031354
STK11 chr19:g.1226569C>T,p.R409W VUS Missense rs368466538
NF1 chr17:g.29541476C>T,p.T467I Likely pathogenic Missense In-silico prediction tools
APC chr5:g.112176446G>A,p.E1719K VUS Missense
BRCA2 chr13:g.32930697T>A,p.L2523Q VUS Missense
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APC- Adenomatous polyposis coli
APC is a gene that encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway.
It is also involved in other processes including cell migration and adhesion, transcriptional activation, and
apoptosis .Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-
malignant disease that usually progresses to malignancy. APC also play a rate-limiting role in the majority of
sporadic colorectal cancers.
APC is altered in 10.55% of all cancers with mutations in 2.04% of breast carcinoma patients.
BRCA2 – Breast cancer 2
BRCA2 is a gene that encodes a protein that functions in maintaining genomic stability and as a tumor suppressor.
BRCA2 is a mediator of the core mechanism of homologous recombination. BRCA2 loss- of-function truncation
mutant display some defects in replication and checkpoint control.
BRCA2 alterations allow cells to bypass checkpoint controls and evade apoptosis, and thereby initiate
tumorigenesis. BRCA2 is altered in 4.63% of all cancers with mutations in 3.95% of breast carcinoma patients.
POLE – Polymerase (DNA directed), epsilon, catalytic subunit
POLE is a gene that encodes a protein that is a catalytic component of DNA polymerase epsilon. The enzymatic
protein functions in DNA repair and chromosomal DNA replication. Polε is also involved in DNA repair pathways
such as mismatch repair (MMR), base excision repair (BER), nucleotide excision repair (NER) or double-strand
break repair. (Guerro J et al, 2017)
Pathogenic somatic mutations in the proofreading domain of POLE have been found in some tumour types at
moderate or rare frequencies. Some mutations in the polymerase domain have been suggested to be drivers.
POLE is altered in 3.43% of all cancers with mutations in 1.78% of breast carcinoma patients
PMS2 – Post-meiotic segregation increased 2
PMS2 is a gene that encodes a protein that functions in DNA mismatch repair that functions to correct DNA
mismatches and small insertions and deletions that can occur during DNA replication and homologous
recombination. Also implicated in DNA damage signalling, a process which induces cell cycle arrest and can lead
to apoptosis in case of major DNA damages.
PMS2 is altered in 1.38% of all cancers with mutations in 0.81% of breast carcinoma patients.
Name : DUMMY N210 Collected : 29/07/2020 Lab No. : 153672450 Age: 35 years Gender: Male Received : 29/07/2020 Status : F Ref By : UNKNOWN Reported : 01/08/2020
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BAP1 – BRCA1 associated protein 1
BAP1 is a tumor suppressor gene important to the development and prognosis of many cancers, especially uveal
melanoma (UM). BAP1 is a scavenger protein that regulates cell cycle, cellular differentiation, and DNA damage
response. BAP1 was first shown to act as a tumor suppressor in cultured cells, where its deubiquitinase (UCH)
domain and nuclear localization sequences were required for BAP1 to suppress cell growth. BAP1 is altered in
2.04% of all cancers.
NTRK1 – Neurotrophic receptor tyrosine kinase 1
The NTRK1 gene provides instructions for making a protein that is essential for the development and survival of
nerve cells (neurons), especially those that transmit information about sensations such as pain, temperature,
and touch (sensory neurons). The NTRK1 protein is found on the surface of cells, particularly sensory neurons.
Trk (neurotrophin) receptors are single transmembrane catalytic receptors with intracellular tyrosine kinase
activity.
NTRK1 is altered in 2.21% of all cancers with mutations in 1.71% of breast carcinoma patients.
STK11- Serine/threonine kinase 11
STK11 is a gene that encodes a protein that belongs to the serine/threonine kinase family. The protein functions
in the regulation of cell polarity and is also a tumor suppressor. STK11 has been reported to play a critical role in
P53-mediated cell apoptosis. STK11 gene is involved in cell cycle regulation and apoptosis, whose abnormality
can induce and promote tumorigenesis.
STK11 is altered in 2.56% of all cancers with mutations in 1.23% of breast carcinoma patients.
NF1 – Neurofibromin 1
NF1 is a gene that codes for neurofibromin, a tumor suppressor protein. NF1 suppresses the function of the Ras
protein, which promotes cell growth and differentiation. In cancer, the tumor suppression function of the gene
is impaired, leading to conditions favorable for uncontrolled cell growth. NF1 mutations have been observed in
multiple cancer types, including myelodysplastic syndromes.
NF1 is altered in 6.78% of all cancers with mutations in 4.83% of breast carcinoma patients.
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Cell Cycle Control Pathway
GENES OVERVIEW
CDK4/6 inhibitors
targeting
pathway -
CDK1 inhibitors,
CDK2 inhibitors,
CDK inhibitors,
Genomic alteration in TP53
gene
Pathway driving cancer- Cell
Cycle Control
Pathway
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Beta-catenin/ Wnt Signaling Pathway
DNA Damage/Repair Pathway
FZD inhibitors
GSK inhibitors
targeting Therapies
pathway –
Genomic alteration in
APC gene
Pathway driving cancer-
Beta catenin/ Wnt
signaling pathway
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DNA Damage/Repair Pathway
Genomic alteration in
BRCA2 and POLE genes
Pathway driving cancer- DNA damage/
repair pathway Therapies pathway – targeting
PARP inhibitors
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DNA Mismatch repair pathway
PARP inhibitors
targeting
pathway -
Genomic alteration in
PMS2 gene
Pathway driving cancer-
DNA mismatch repair
Pathway
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Receptor Tyrosine Kinase Pathway
Genomic alteration in
NTRK1 and NFI genes
Pathway driving cancer-
Receptor tyrosine kinase
pathway
Therapies targeting pathway- Therapeutic antibodies
Tyrosine kinase inhibitors
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Engl J Med. 2016;375 (21):2023–2036. doi:10.1056/NEJMoa1605949
Yamamoto S, Iwakuma T. Regulators of Oncogenic Mutant TP53 Gain of Function. Cancers (Basel). 2018;11 (1):4. Published
2018 Dec 20. doi:10.3390/cancers11010004
Websites
COSMIC - Catalogue Of Somatic Mutations in Cancer - https://cancer.sanger.ac.uk/cosmic
ClinVar https://www.ncbi.nlm.nih.gov/clinvar
NIH- Clinical Trials - https://clinicaltrials.gov/
NIH- National Cancer Institute - https://www.cancer.gov/
https://www.mycancergenome.org/
https://www.drugbank.ca/
https://www.cancer.net/cancer-types
http://www.cancer-genetics.org/
https://www.cancerresearchuk.org/
https://www.genecards.org/
https://pubchem.ncbi.nlm.nih.gov/
http://atlasgeneticsoncology.org/
Name : DUMMY N210 Collected : 29/07/2020 Lab No. : 153672450 Age: 35 years Gender: Male Received : 29/07/2020 Status : F Ref By : UNKNOWN Reported : 01/08/2020
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TEST DESCRIPTION
Somatic Genomic Test- Target Focus is a Next Generation Sequencing based test which identifies genetic alterations in a comprehensive panel of well curated 352 tumor genes which can impact response to approved therapy for a particular cancer type. Some of the alterations detected may have bearing on prognosis and/or therapeutic options and may provide relevant information that allows doctor to consider various lines of targeted treatment for the patient.
Sample preparation and Library preparation:
DNA isolated from FFPE or any other fresh tumor tissue source was used to perform targeted gene capture using a custom capture kit. The libraries were sequenced to mean >100X coverage on Illumina sequencing platform.
Bioinformatics Analysis and Reporting:
The sequences obtained are aligned to human reference genome (GRCh37/hg19) and variant analysis was performed using set of Bioinformatics Pipeline. Clinically relevant mutations were annotated using published variants in literature and a set of databases – ClinVar, COSMIC Drugs and Clinical Trials, FDA Approval Drugs. Common variants are filtered based on allele frequency in 1000 Genome Phase 3, ExAC, EVS, dbSNP147, etc. Non-synonymous variants effect is calculated using multiple algorithms such as PolyPhen-2, SIFT, MutationTaster2, Mutation Assessor and LRT. Only non-synonymous and splice site variants found in the clinical exome panel consisting of specific set of genes were used for clinical interpretation. Silent variations that do not result in any change in amino acid in the coding region are not reported.
Tumor Mutation Burden (TMB) is an evolving and promising biomarker for predicting a response to immunotherapy treatment. TMB is calculated by estimating the somatic non synonymous coding mutation as identified by Whole Exome Sequencing. A sample is categorized as High TMB if the TMB is found to be ≥20 mutations / megabase.
Name : DUMMY N210 Collected : 29/07/2020 Lab No. : 153672450 Age: 35 years Gender: Male Received : 29/07/2020 Status : F Ref By : UNKNOWN Reported : 01/08/2020
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LIMITATIONS AND DISCLAIMER
DNA studies do not constitute a definitive test for the selected condition(s) in all individuals. It should be
realized that there are possible sources of error. Errors can result from trace contamination, rare technical errors,
rare genetic variants that interfere with analysis, recent scientific developments, and alternative classification
systems. This test should be one of the many aspects used by the healthcare provider to help with a diagnosis and
treatment plan.
The contents of this test should be carefully assessed by the treating physician and further interpreted
along with clinical, histopathological findings, contraindications and guidelines before deciding the course of
therapy.
Most recent block is recommended for testing as the mutation profile may change in response to treatment
and hence differ at different sampling points.
Somatic Genomic Test has not been cleared or approved by the FDA.
Large deletions of more than 10 bp or copy number variations /chromosomal rearrangements cannot be
assessed using this method.
Certain genes may not be covered completely, and few mutations could be missed. A negative result
cannot rule out the possibility that the tested tumor sample carries mutations not previously associated with
cancer and hence not included in the panel.
The following table represents the panel of 352 genes, evaluated in the Target Focus test, commonly known to be
associated with different cancers and cancer syndromes.
ABCB1 BRAF CDKN2C EPHA3 FGF3 HSD3B1 MAP3K1 NFE2L2 PIM1 RNF43 SUFU
ABCC1 BRCA1 CEBPA EPHB1 FGF4 103 MAP3K13 NFKBIA PLK1 ROS1 SULT1A1
ABL1 BRCA2 CHEK1 EPHB4 FGF6 IDH1 MAPK1 NKX2-1 PMS2 RPTOR SYK
ACVR1B BRD4 CHEK2 ERBB2 FGFR1 IDH2 MCL1 NOTCH1 POLD1 RRM1 TBX3
AKT1 BRIP1 CIC ERBB3 FGFR2 IGF1R MDM2 NOTCH2 POLE RSP02 TEK
AKT2 BTG1 CREBBP ERBB4 FGFR3 IKBKE MDM4 NOTCH3 PPARG SDC4 TGFBR2
AKT3 BTG2 CRKL ERCC1 FGFR4 IKZF1 MED12 NPM1 PPP2R1A SDHA TIPARP
ALK BTK CSF1R ERCC2 FH INPP4B MEF2B NRAS PPP2R2A SDHB TMPRSS2
ALOX12B CALR CSF3R ERCC4 FLCN IRF2 MEN1 NTSC2 PRDM1 SDHC TNFAIP3
AMER1 CARD11 CTCF ERCC5 FLT1 IRF4 MERTK NTRK1 PRKAR1
A SOHO TNFRSF14
APC CASP8 CTNNA1 ERG FLT3 IRS2 MET NTRK2 PRKCD SETD2 TOP1
AR
CBFB CTNNB1 ERRFl1 FLT4 JAK1 MITF NTRK3 PRKCI SF3B1 TOP2A
GENES EVALUATED
Name : DUMMY N210 Collected : 29/07/2020 Lab No. : 153672450 Age: 35 years Gender: Male Received : 29/07/2020 Status : F Ref By : UNKNOWN Reported : 01/08/2020
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ARAF CBL CUL3 ESR1 FOXL2 JAK2 MKNK1 NUTM1 PTCH1 SGK1 TOP2B
ARFRP1 CCND1 CUL4A ETV4 FUBP1 JAK3 MLH1 P2RY8 PTEN SLC29A1 TP53
ARID1A CCND2 CXCR4 ETV5 GABRA6 JUN MPL PALB2 PTPN11 SLC34A2 TPMT
ASXL1 CCND3 CYP17A1 ETV6 GATA1 KDM5A MRE11A PARK2 PTPRO SLC01B1 TSC1
ATM CCNE1 CYP2B6 EWSR1 GATA3 KDM5C MSH2 PARP1 QKI SMAD2 TSC2
ATR CD22 CYP2C19 EZH2 GATA4 KDM6A MSH3 PARP2 RAC1 SMAD4 TYMP
ATRX CD274 CYP2C8 EZR GATA6 KOR MSH6 PARP3 RAD21 SMARCA4 TYR03
AURKA CD70 CYP206 FAM46C GID4 KEAP1 MST1R PAX5 RAD5O SMARCB1 U2AF1
AURKB CD74 DAXX FANCA GNA11 KEL MTAP PBRM1 RAD51 SMO VEGFA
AXIN1 CD79A DDR1 FANCC GNA13 KIT MTHFR PDCD1 RAD51B SNCAIP VHL
AXL CD79B DDR2 FANCD2 GNAQ KLHL6 MTOR PDCD1LG2 RAD51C SOCS1 WHSC1
BAP1 CDC73 DHFR FANCG GNAS KMT2A MUTYH PDGFRA RAD52 SOX9 WHSC1L1
BARD1 CDH1 DIS3 FANCL GRM3 KMT2D MYB PDGFRB RAD54L SPARC WT1
BCL2 CDK12 DNMT3A FAS GSK3B KRAS MYC PDK1 RAF1 SPEN XPA
BCL2L1 CDK4 DOT1L FBXW7 GSTP1 LTK MYCL PIK3C2B RARA SPOP XPC
BCL2L2 CDK6 OPYD FGF10 H3F3A LYN2 MYCN PIK3C2G RB1 SRC XP01
BCL6 CDK8 EEO FGF12 HDAC1 MAF MYD88 PIK3CA RBM10 STAG2 XRCC1
BCOR CDKN1A EGFR FGF14 HGF MAP2K1 NBN PIK3CB REL STAT3 XRCC2
BCORL1 CDKN1B EMSY FGF19 HNF1A MAP2K2 NF1 PIK3R1 RET STK11 ZNF217
BCR CDKN2A EP300 FGF23 HRAS MAP2K4 NF2 PIK3R2 RICTOR STK11IP ZNF703
Reference: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6030806/
--- End of report ----
Dr. Anand C Annan
MD (Path), PhD (Molecular & Cellular Pathology),
Head Oncopathology
NRL, Dr Lal PathLabs Ltd.
Dr. Atul Thatai PhD, National
Head R&D Molecular
Diagnostics, NRL, Dr Lal
PathLabs Ltd.
Dr. Gaurav Verma PhD (Clinical Genetics)
Sr. Manager – Scientific Affairs,
NRL, Dr Lal PathLabs Ltd.