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Unfortunately, there is still a huge variation in survival rates among cancer patients
Molecular profiling has undergone revolutionary changes over the last years due to the evolution of knowledge, technology and standard clinical practice. Molecular profiling is now nearly essential for all patients with metastatic solid tumors. Moreover, going beyond the usual routine markers is mandatory to enter into the era of personalised medicine.
The aspiration of precision oncology is to change the clinical routine and to treat cancer patients according to their individual molecular profile
Many targeted agents have been developed and approved in the last 15 years and they are nowadays prescribed in routine clinical practice with encouraging antitumour activity
Solid biopsies are not always possible to obtain (invasive procedure), while liquid biopsies offer a versatile and non-invasive opportunity to characterise and monitor disease in patients with cancer.
Current treatment costs and limited drug efficacy make therapy choice extremely difficult for oncologists. Healthcare expenditure is significantly increasing, and the costly treatments prescribed nowadays need to be able to improve the quality of life and survival of patients.
We have developed a unique and powerful combination of biomarker tests to support your therapeutic decision-making: next-generation sequencing of large gene panels, immunohistochemistry analysis and other tests performed on both solid and/or liquid biopsies.
Unique combination of DNA, RNA and protein analyses on a tissue biopsy to support clinical decisions at diagnosis or disease progression.
Fast and minimally invasive analysis of cancer-specific genomic panels for lung, colorectal and breast cancer patients.
Analysis of ctDNA in blood to monitor tumor progression in real time and detect lack of response or resistance to treatment as soon as it appears.
OncoKDM is an online platform that turns your NGS data into actionable clinical information. Moreover, OncoKDM can integrate NGS results with IHC, MSI and TMB data. The resulting comprehensive and interactive report includes updated information about approved and investigational treatments for each patient, as well as NGS quality control data, patient clinical data and comprehensive NGS variants annotation.
Our platform OncoSHARE shows you the results of your patient's molecular profiling through an online integrated theranostic report that includes a comprehensive biological and clinical interpretation. This report gives you an insight into the most effective treatments according to the unique features of your patient's tumour, taking into account the most relevant scientific information, official cancer guidelines and recruiting clinical trials.
Transforming cancer data into knowledge-driven medicine
Connecting healthcare professionals and patients
Female, 56 years old
Diagnosed end 2016. We found a stop APC codon upstream several protein domains required for protein function. Cells with APC mutations may be more resistant than those with wild-type APC. We also showed a low expression of VEGFR2. With those results, treatment based on anti-angiogenesis drug could be associated with undeterminated clinical benefit. We found a KRAS G12D. The official guidelines recommend not to treat metastatic colorectal cancer patients harboring a KRAS mutation with the anti-EGFR agent cetuximab or panitumumab, regardless of EGFR expression status. Based on package plus analysis, this patient should be sensitive to topoisomerase I inhibitor, temozolomide, TAS-102 based chemotherapies. On the other hand this patient should not be sensitive to 5-FU, platinum salt based chemotherapies and PD-1/PD-L1 inhibitors. The immunogram shows a low potential response to immunotherapy.
Female, 42 years old
Based on package plus analysis, this patient should be sensitive to taxane, toposiomerase I and II inhibitors, gemcitabine based chemotherapies and to PD-1/PD-L1 inhibitors. The immunogram shows a high potential response to immunotherapy. Therefore, based on the level of CD8+ lymphocytes and PD-L1 expression, treatment based on PD-1/PD-L1 inhibitors could be associated with potential clinical benefit for this patient. On the other hand this patient should not be sensitive to platinum salt, 5-FU based chemotherapies.
Male, 72 years old
Diagnosed in 2015 . Based on package plus this patient should be sensitive to taxane based chemotherapy and to MEK/ERK, PD-1/PD-L1 and mTOR inhibitors. With a high expression of p4EBP1 (an mTOR C1 effector), we have evidence of mTOR activation. In addition, PTEN negative expression is indicating that PTEN is not present to antagonize the PI3K pathway and to fulfill its function as a tumor suppressor. Moreover, NGS data show that this patient is WT for PIK3CA. Altogether, those results suggest that mTOR inhibitors would be associated with a clinical benefit for this patient whereas PIK3 inhibitors would be associated with a lack of clinical benefit for this patient. As for the PI3K/mTOR dual inhibitors, they would be associated with undetermined clinical benefit for the patient.
On the other hand this patient should not be sensitive to platinum salt, gemcitabine based chemotherapies and to ALK/RET/ROS1 and MET inhibitors.
Male, 70 years old
We found an EGFR L858R mutation. This is one of the most frequent EGFR mutations in NSCLC (26-40%) and the most common sensitizing mutation to EGFR-TKI therapies, it has been reported to double the phosphorylation effects of EGFR after ligand treatment. NSCLC patients carrying this mutation are responsive to gefitinib and erlotinib therapies. This patient should be sensitive to gemcitabine based chemotherapy. On the other hand this patient should not be sensitive to taxane, 5-FU based chemotherapies and to ALK/RET/ROS1/NTRK, MET, PI3K and dual PI3K/mTOR inhibitor.
Male, 58 years old
SOLID PART: We found a BRCA2 stop codon. BRCA2 loss of function mutations in the germline have become a hallmark for hereditary breast and ovarian cancers. PARP inhibitors attack tumours defective in the BRCA2 gene by a concept termed ‘synthetic lethality’. If a BRCA2 mutation is present, the breast cancer is less likely to be oestrogen-receptor-positive, which means that the patient may not be a candidate for treatment with hormonal therapy. Several PARP inhibitors are recommended by NCCN guidelines and FDA approved for the treatment of breast cancer HER2-negative, BRCA1/2 positive. Based on package plus analysis, this patient should be sensitive to ER, CDK4/6 inhibitors. On the other hand this patient should not be sensitive to 5-FU based chemotherapy and to HER2, PI3K, dual PI3K/mTOR inhibitors.
LIQUID PART: The hereditary germline cancer panel has been performed on the peripheral blood mononuclear cells. A BRCA2 variant at a frequency of 51% has been found.
Female, unknown age
We found an ESR1 D538G mutation. Located in the ligand-binding domain of the protein, this variant has been associated in vitro with a constitutive activity and continued responsiveness to anti-estrogen therapies and in vivo associated with resistance to anti-estrogen therapies.
This mutation has been associated with a worse prognosis and is one of the most frequent mutations in breast cancer associated with a progression through aromatase inhibitor therapy. Reported to constitutively activate the estrogen receptor and already associated with worse prognosis, retrospective studies and prospectives studies have shown that this variant is associated with patients that progressed after treatment by aromatase inhibitors (like letrozole or exemestane), but not after tamoxifen. It has also been reported that the PFS is increased from 2.6 months for patients who received exemestane to 5.7 months for those given fulvestrant. In a retrospective analysis of a large clinical trial, in which patients harboring the D538G mutation benefited from the addition of everolimus (mTOR inhibitor) to exemestane (aromatase inhibitor) for metastatic breast cancer patients progressing on AI.
Female, 55 years old
We found a PIK3CA H1047R mutation, which is oncogenic in vivo. It has been associated with an increase in lipid kinase activity. Moreover, it requires binding to p85 regulatory subunit to induce cellular transformation. Considering as activating, this variant may lead to increased activation of the PI3K/Akt/mTOR pathway. Therefore, PI3K, mTOR and dual PI3K/mTOR inhibitors would show potential clinical benefit upon mTOR pathway activation and/or PTEN loss or mutated. Interestingly, the mTOR inhibitors temsirolimus and everolimus have been approved by the FDA for use in various solid tumors. Moreover, it has been reported that PIK3CA mutations are associated with lower rates of pathologic complete response to anti-HER2 therapy in HER2-positive breast carcinomas. Moreover, it seems that PIK3CA exon 20 mutations are associated with resistance to anti-EGFR in colorectal cancer (PMID: 28002810). Finally, PIK3CA mutations have been identified in ~5% of EGFR mutant lung cancers that developed acquired EGFR TKI resistance.
Male, 71 years old
We found a HER2 L755S mutation. This variant is associated in vitro with strong resistance to lapatinib treatment and to some extent to AEE788 treatment. Nonetheless, it has been also shown in vitro that this variant is sensitive to the irreversible kinase inhibitor like neratinib and canertinib. The clinical impact on the trastuzumab and pertuzumab is unknown.
This variant has also been associated with resistance to anti-estrogen therapies. But we can't make any conclusion about the lack of clinical benefit of such therapy.
OncoDNA scientific team regularly publishes studies in peer-reviewed international journals. We have selected for you the key scientific publications that support our clinical expertise in precision oncology.
Thanks to OncoDEEP, we were able to identify a new treatment that would have not been found from routine testing.
Precision medicine is becoming unavoidable for treating cancer. Each patient is unique, and there is a unique way to take care of him/her.
At OncoDNA, we believe in collaboration to ensure the delivery of personalised cancer care. Our latest projects include MDIP - the Molecular Diagnostic Innovation Partnership - and ONCOmmunity - the molecular oncology podcast. While MDIP aims to bring together care providers, payors, clinicians, nurses and patients to improve access to biomarker testing collectively; ONCOmmunity explores some aspects of molecular oncology in the treatment of cancer together with experts from various professional backgrounds and horizons.
