Enhanced Glossary

OMPRN is committed to improving the understanding of molecular pathology for everyone in the province. To help with this, we have created an “enhanced glossary” for common cancer, genetics and molecular pathology terms. Our enhanced glossary goes beyond traditional term definitions to include term definitions, audio pronunciation, illustrative images, contextual examples and more.

Please note that any information you find here is for educational purposes only


fr: allèle

One of two or more versions of a gene or DNA sequence at a particular region on a chromosome. A person has two alleles for each gene, one inherited from each parent.

Example: The patient’s genetic profile exhibited a variation in the BRCA1 gene, with one allele carrying a pathogenic mutation associated with an increased risk of hereditary breast cancer.

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Image showing the structure and functioning of amino acids.

Amino Acid

fr: acide aminé

An amino acid is the basic molecule that serves as the building blocks for proteins. There are 20 different amino acids. Some amino acids can be synthesized in the body; however, others (essential amino acids) must be obtained from a person’s diet.

Example: A DNA mutation caused an amino acid change that disrupted the normal function of the protein.

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Image showing a schematic of angiogenesis.


fr: Angiogenèse

Angiogenesis is the process of new capillaries forming out of preexisting blood vessels in your body. It’s normally a helpful, important process that supports wound healing and supplies oxygen-rich blood to your organs and tissues. But in people with cancer, angiogenesis supports tumor growth and spread by feeding tumors with oxygen and nutrients.

Example: Angiogenesis plays a crucial role in the metastatic process by promoting the growth of new blood vessels that supply nutrients and oxygen to secondary tumors, enabling their continued expansion and progression.

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  • Metastasis Video


Image showing the chromosomes that are classified as autosomal in a karyotype.


fr: autosomique

Is associated with any of the 22 numbered pairs of chromosomes found in most human cells. Autosomal chromosomes are numbered 1-22. The sex chromosomes (X and Y chromosomes) determine whether an individual is male or female and are not considered autosomal chromosomes.

Example: The BRCA1 gene is located on chromosome #17. Variants in BRCA1 are transmitted in an autosomal dominant pattern within a family.

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fr: bénigne (feminine), bénin (masculine)

Not cancer. Benign tumors may grow larger but do not spread to other parts of the body.

Also called nonmalignant.

Example: Based on its appearance and the absence of abnormal cancer biomarkers, the pathologist determined that the tumor was benign.

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Image showing the various scientific fields that make up bioinformatics


fr: Bioinformatique

Bioinformatics is a field of study that analyzes biological data by combining biology, computer science, mathematics and statistics.

Example: In the clinical trial study, the researchers used bioinformatics to predict the efficiency and effectiveness of precision medicine based on a patient’s genotype.

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Image showing all the various uses and functions of biomarkers


fr: Biomarqueurs

A biological molecule found in blood, other body fluids, or tissues that is a sign of a normal or abnormal process, or of a condition or disease. A biomarker may be used to see how well the body responds to a treatment for a disease or condition. Also called molecular marker and signature molecule.

Example: In molecular pathology, researchers are actively exploring the identification and validation of specific biomarkers that can serve as indicators of disease presence, progression, or response to treatment, providing valuable insights into personalized medicine.

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fr: carcinome

Cancer that begins in a part of the skin or in the layer of cells that covers internal organs.

Example: The biopsy confirmed the diagnosis of invasive ductal carcinoma of the breast.

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Image showing the basic inheritance pattern of carriers.


fr: porteur

An individual who has one copy of a variant allele that is associated with a recessive genetic disorder. Carriers do not exhibit symptoms of the disorder.

Example: Genetic counseling identified the patient as a carrier of a hereditary cancer susceptibility gene.

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Image showing the structure of a chromosome.


fr: chromosome

A structure found inside the nucleus of a cell. A chromosome is made up of proteins and DNA organized into genes. Each cell normally contains 23 pairs of chromosomes.

Example: The oncologist explained that the cancer cells exhibited an abnormal number of chromosomes, which could influence the tumor’s behavior and response to treatment.

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Image showing all the circulating cells that can be detected in the body.

Circulating Tumor Cells (ctc)

fr: cellules tumorales circulantes (ctc)

Circulating tumor cells (CTCs) are tumor cells that become dislodged from the primary tumor. These cells enter the bloodstream and if they land in favourable sites, they could form metastases.

Example: By analyzing circulating tumor cells isolated from the patient’s blood sample, we can gain insights into the molecular characteristics of the cancer without the need for a more invasive tissue biopsy.

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Image showing the various phases involved in a clinical trial

Clinical Trials

fr: essai clinique

A clinical trial is a research study involving human participants that evaluates the safety and/or effects of one or more interventions on health outcomes. Interventions include, but are not limited to, drugs, vaccines, radiopharmaceuticals, cells and other biological products, surgical procedures, radiologic procedures, devices, genetic therapies, natural health products, process-of-care changes, preventive care, manual therapies, and psychotherapies.

Example: Next-generation sequencing detected an ALK gene rearrangement. While the patient is eligible for ALK inhibitors, participation in a clinical trial targeting ALK fusions is also recommended.

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Image showing an example of a clinical trial group set up. Where the control group was given 1 placebo every morning, whereas the treatment group received 1 antidepressant tablet every morning.

Control Group

fr: contrôle

In a clinical trial, the control group refers to patients who do not receive the new treatment being studied. Patients in group are compared to patients who receive the new treatment, to see if the new treatment works.

Example: The clinical trial incorporated a control group that received a standard treatment , enabling researchers to compare the effects of the experimental drug.

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Image showing a schematic of CNV, showing how the number of copies of a particular segment of DNA varies between individuals.

Copy Number Variation (CNV)

fr: Variation du nombre de copies

CNV refers to a type of genetic variation where the number of copies of a particular segment of DNA varies from one individual to another. These variations can range from small deletions or duplications to larger structural changes in the genome.

Example: Researchers are investigating how copy number variation contributes to the growth and spread of cancer cells, aiming to develop targeted therapies in future.

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Image showing how ctDNA gets transported from the tumor into the bloodstream.

Circulating Tumor DNA (ctDNA)

fr: ADN tumoral circulant (ADNc)

Circulating tumor DNA (ctDNA) is found in the bloodstream and refers to DNA that comes from cancerous cells and tumors. Most DNA is inside a cell’s nucleus. As a tumor grows, cells die and are replaced by new ones. The dead cells get broken down and their contents, including DNA, are released into the bloodstream. ctDNA are small pieces of DNA, usually comprising fewer than 200 building blocks (nucleotides) in length.

Example: Circulating tumor DNA (ctDNA) refers to small pieces of DNA from cancer cells that end up in the bloodstream. DNA is normally inside a cell’s nucleus but as tumour cells die, their DNA gets broken down and released into the bloodstream.

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Diagnostic Biomarker

fr: Biomarqueurs diagnostiques

Indicates the presence or absence of a disease or condition. Answers the question of which type of cancer is present and at what stage is it.

Example: Increased levels of Carbohydrate Antigen (CA 19-9) are diagnostic biomarkers used in pancreatic cancer detection and monitoring.

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Digital Pathology

fr: pathologie numérique

Pathologists examine tissue on glass slides using a powerful microscope. In digital pathology, the glass slides are scanned into a computer, where they can be viewed by the pathologist using specialized software.

Example: Digital pathology enables pathologists to analyze tissue samples using computer technology, streamlining the diagnostic process and facilitating collaboration among healthcare professionals.

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Image showing the structure of DNA as well as their bases.

Deoxyribonucleic Acid

fr: acide désoxyribonucléique

The molecule inside cells that contains the genetic information needed for a person and most other organisms to develop and grow and is passed from one generation to the next. DNA is made up of two strands that twist into the shape of a spiral ladder called a double helix. Each strand has a backbone that is made up of sugar and phosphate molecules that attach to one of four bases: adenine (A), thymine (T), guanine (G), and cytosine (C). The bases pair up with one another (A with T, and G with C) to form chemical bonds, which act like rungs on a ladder. This holds the two strands of DNA together. Also called deoxyribonucleic acid.

Example: Genetic testing analyzes an individual’s DNA to identify potential genetic variations or mutations, providing valuable information about their risk for certain inherited conditions or susceptibility to diseases.

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Image showing how a methyl-group is added to DNA in the process of DNA Methylation.

DNA Methylation

fr: méthylation de l’ADN

DNA methylation works by adding a chemical modification to DNA. Typically, this group is added to specific places on the DNA, where it blocks the proteins that attach to DNA to “read” the gene. This chemical group can be removed through a process called demethylation. Typically, methylation turns genes “off” and demethylation turns genes “on.

Example: Upon studying the disease at the molecular level, unusual DNA methylation was found suggesting that possible changes in gene activity is linked to the development of the illness.

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Image showing the different ways DNA mutation can occur.

DNA Mutation

fr: Mutation de l’ADN

A mutation is a change in the DNA sequence. A mutation is also called a “variant.”

Example: A DNA mutation in the BRCA1 disrupted the normal function of the gene and contributed to cancer development.

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Image showing how DNA sequencing occurs and which base pairs link up.

DNA Sequencing

fr: séquençage ADN

Sequencing DNA means determining the order of the four chemical building blocks – called “bases” – that make up the DNA molecule. The sequence tells scientists the kind of genetic information that is carried in a particular DNA segment.

Example: DNA sequencing has played a crucial role in uncovering the genetic variations associated with the rare disease, aiding researchers in pinpointing potential therapeutic targets.

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Image showing how a dominant gene is inherited.


fr: dominant

A person receive two versions of each gene, known as alleles, from each parent. If the alleles of a gene are different, one allele may be preferentially expressed compared to the other – this is the dominant gene. The effect of the other allele, called recessive, is masked.

Example: The patient’s family tree showed patterns of autosomal dominant inheritance, suggesting a hereditary cause of the disease.

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Image showing how epigenetic modifications can alter the structure of a genome.


fr: épigénétique

Epigenetics is the study of how your behaviors and environment can cause changes that affect the way your genes work. Unlike genetic changes, epigenetic changes are reversible and do not change your DNA sequence, but they can change how your body reads a DNA sequence.

Example: Epigenetic changes were detected in the MGMT gene, which made the patient’s tumour respond more strongly to chemotherapy.

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Image showing the structure of an exome, consisting of exons.


fr: éxome

Exons are the genome’s protein-coding regions and are collectively known as the exome.

Example: By analyzing the exome of tumour tissues, researchers identified key mutations in genes associated with DNA repair pathways, offering valuable information about the genomic landscape of the cancer and potential targets for precision therapies.

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Image showing the principle of flow cytometry.

Flow Cytometry

fr: cytométrie en flux

A lab test used to analyze cells or tiny particles. During the process, a sample of cells or particles is suspended in fluid and injected into a flow cytometer machine. Approximately 10,000 cells can be analyzed and processed by a computer in less than one minute.

Example: Flow cytometry showed a decrease in the leukemia cells after initial treatment.

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Image showing the basic principle of FISH

Fluorescence in-situ Hybridization (FISH)

fr: hybridation in situ en fluorescence

FISH is a molecular pathology technique used to detect the presence and location of specific DNA and RNA sequences within cells and tissue.

Example: FISH analysis showed that the HER2 gene was amplified in the patient’s invasive breast carcinoma sample.

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Image showing a sample of FFPE tissue.

Formalin-Fixed Paraffin-Embedded (FFPE)

fr: Fixé au Formol et Intégré en Paraffine

FFPE refers to a method of preserving tissue samples for histological analysis. Tissue samples are fixed in formalin, dehydrated, and embedded in paraffin wax, allowing them to be stored for long periods while preserving cellular structure.

Example: The pathologist examined the Formalin-Fixed Paraffin-Embedded tissue samples under the microscope to determine the stage and grade of the patient’s cancer.

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Image showing how a frameshift mutation occurs.

Frameshift Mutation

fr: mutation de décalage de cadre

A type of insertion or deletion of DNA bases in a gene that affects the “reading frame” of the gene’s instructions to shift and leads to incorrect protein production. Also called frameshift variant.

Example: A frameshift mutation in the MLH1 gene leads to a shortened protein and loss of mismatch repair function.

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Image showing the different kinds of genetic mutations that can be found.

Genetic Mutation

fr: mutation génétique

See Variant

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Image showing the organization of a genome in an organism.


fr: génome

The complete set of DNA (genetic material) in an organism. In people, almost every cell in the body contains a complete copy of the genome. The genome contains all of the information needed for a person to develop and grow. Studying the genome may help researchers understand how different types of cancer form and respond to treatment. This may lead to new ways to diagnose, treat, and prevent cancer.

Example: Scientists are working diligently to decode the entire human genome, unlocking the secrets embedded in our DNA that influence traits, diseases, and overall health.

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fr: génomique

Genomics is the study of the genes in a person’s genome. Genomic medicine uses genomic information as part of a person’s clinical care plan.

Example: Genomics analysis showed that the patient is a carrier of a BRCA1 cancer risk variant.

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fr: Génotype

The genotype represents the genetic blueprint of an organism. It encompasses the entire selection of genetic information inherited from one’s ancestors.

Example: A research study focused on understanding the genotype of cancer cells, revealing specific genetic alterations that contribute to the uncontrolled growth and survival of the malignant cells.

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fr: Lignée germinale

Germline DNA refers to tissue derived from reproductive cells (egg or sperm) that become incorporated into the DNA of every cell in the body of the offspring. A germline mutation may be passed from parent to offspring. Also called constitutional DNA.

Example: A germline mutation in the BRCA1 gene was identified. This pathogenic variant is associated with an increased risk of hereditary breast and ovarian cancer syndrome.

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Image showing a heterozygous gene.


fr: hétérozygote

Refers to having inherited different versions (alleles) of a gene from each biological parent. Thus, an individual who is heterozygous for a gene has two different versions of that gene.

Example: DNA sequencing identified a heterozygous BRCA2 variant gene that is associated with an increased risk of hereditary breast and ovarian cancer syndrome.

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Image showing how kidney cells look under a microscope.


fr: histologie

The study of tissues and cells under a microscope.

Example: The histology showed the presence of abnormal cell patterns characteristic of pancreatic cancer.

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Image showing a lung adenocarcinoma with strong TTF1 (hyroid transcription factor-1) staining of tumor cells.


fr: histopathologie

Is the diagnosis and study of diseases of tissues and involves examining tissues and/or cells under a microscope. Pathologists are experts in histopathology.

Example: Histopathology of the excised mass revealed a poorly differentiated adenocarcinoma.

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Image showing a homologous gene.


fr: homologue

Homozygous refers to having inherited the same versions (alleles) of a genomic marker from each biological parent. An individual who is homozygous for a gene has two identical versions of that gene.

Example: A germline homozygous mutation in the DNA repair gene led to colon cancer development in the patient.

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Image showing (A) the schematic of how immunofluorescence works, (B) An example of a cell structure stained with immunofluorescence under the microscope.


fr: immunofluorescence

Immunofluorescence is a lab technique uses antibodies to detect the presence and location of proteins and other molecules within cells and tissue. The antibodies are labeled with a fluorescent dye and “glow” when exposed to ultraviolet light.

Example: In the laboratory, researchers used immunofluorescence to visualize specific proteins within cells by tagging them with fluorescent markers, allowing for detailed examination under a microscope.

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An example of an immunostaining method used in practice to diagnose colon- colorectal adenocarcinoma.


fr: Immunocoloration

Immunostaining is a process healthcare providers use to diagnose infections, cancers and other conditions. It identifies a specific protein (like a cancer-causing protein) from a mixture of other proteins in a sample of your blood or tissue.

Example: The pathologist utilized immunostains to enhance the visualization of specific proteins in the tissue sample, aiding in the accurate diagnosis of the patient’s medical condition.

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In Silico Analysis

fr: Analyse in silico

In silico studies are biological experiments carried out entirely on a computer, or via a computer simulation

Example: In in silico analysis showed that the DNA variant would lead to a defective protein.

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All the areas that are discussed during the informed consent process.

Informed Consent

fr: consentement éclairé

Informed consent is a process that ensures participants understand the trial and voluntarily agree to participate. It involves educating potential participants about the study’s purpose, procedures, risks, benefits, and their rights.

Example: Before participating in the clinical trial, participants were provided with detailed information about the study and its potential risks and benefits, and they were required to sign an informed consent form to indicate their understanding and voluntary agreement to participate.

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Image showing how different traits can be inherited.


fr: hérité

Refers to a trait or variants encoded in DNA and passed from parent to offspring during reproduction.

Example: The increased risk of developing certain types of cancer can be influenced by inherited genetic mutations, as individuals may inherit genetic predispositions that make them more susceptible to the disease.

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fr: interventions

A treatment, procedure, or other action taken to prevent or treat disease, or improve health in other ways.

Example: Clinical trials are testing new cancer treatments, such as immunotherapy, with the goal of finding more effective interventions for patients.

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Image showing where the intronic regions are located on a nucleic acid sequence sequence.

Intronic Region

fr: région intronique

Introns are sections of an RNA transcript, or the DNA encoding it, that are cut out before the RNA molecule makes a protein. The sections of DNA (or RNA) that code for proteins is called exons.

Example: Researchers focused on the intronic region to study non-coding segments of the gene, revealing important information about regulatory elements and their influence on genetic processes

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Liquid Biopsy

fr: Biopsie liquide

Liquid biopsy is a medical test that uses fluids from the body. Blood is the most common liquid biopsy source, but saliva, urine or the fluid around organs (like the lungs and brain) can also be used.

Example: Given the non-invasive nature and the comprehensive genetic information it can provide, we are considering using liquid biopsy to monitor the tumor’s response to treatment and detect any potential recurrence early.

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Image showing the LOH.

Loss of Heterozygosity (LOH)

fr: Perte d’hétérozygotie

LOH refers to the loss of one allele at a specific genetic locus, resulting in a region of DNA becoming homozygous. LOH can occur through various mechanisms, including deletion, mutation, or chromosomal rearrangement, and is often associated with tumor suppressor gene inactivation.

Example: The presence of loss of heterozygosity in the tumor samples indicated a potential genetic driver of the patient’s cancer, guiding treatment decisions towards therapies targeting specific mutated genes.

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Machine Learning

fr: apprentissage automatique

Machine learning is a type of artificial intelligence where computers use large amounts of data to “learn” how to do various tasks without someone needing to program these individual abilities.

Example: The researchers found that their machine learning algorithm was able to accurately predict the type of cancer based on digital pathology images.

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fr: maligne (feminine), malin (masculine)

A term used to describe cancer. Malignant cells grow in an uncontrolled way and can invade nearby tissues and spread to other parts of the body through the blood and lymphatic systems

Example: The pathology report confirmed the presence of malignant cells in the tissue, underscoring the urgency for a comprehensive and aggressive approach to treatment.

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Image showing the principle of mass parallel Sequencing.

Mass Parallel Sequencing

fr: Séquençage parallèle de masse

A high-throughput method used to determine a portion of the nucleotide sequence of an individual’s genome. This technique utilizes DNA sequencing technologies that are capable of processing multiple DNA sequences in parallel. Also called next-generation sequencing or NGS.

Example: The laboratory employed mass parallel sequencing to simultaneously analyze thousands of DNA fragments, enabling rapid and comprehensive genomic profiling for research and diagnostic purposes.

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Image showing MSI.

Microsatellite Instability (MSI)

fr: Instabilité des microsatellites

MSI is a condition characterized by the accumulation of errors in microsatellite DNA sequences, which are short repetitive sequences scattered throughout the genome.

Example: Microsatellite instability, characterized by errors in the repetition of short DNA sequences, is a hallmark of certain types of cancer, including colorectal cancer, and can influence prognosis and treatment options for affected patients.

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Image showing an example of a molecular assay used in literature. Clonogenic assay performed in six-well plates, with clones produced by SW-1573 lung tumor cells.

Molecular Assay

fr: essai moléculaire

Biological assays are experimental methods for assessing the presence, localization, or biological activity of a substance in living cells and biological matrices. Such methods are essential to biological science and technology.

Example: The researchers conducted a molecular assay to identify specific genetic mutations associated with the rare disorder, providing valuable insights into potential targeted therapies for affected individuals.

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Franken, N., Rodermond, H., Stap, J. et al. Clonogenic assay of cells in vitro. Nat Protoc 1, 2315–2319 (2006). https://doi.org/10.1038/nprot.2006.339

Molecular Biology

fr: biologie moléculaire

Molecular biology involves the study of very large molecules in the body like proteins and nucleic acids.

Example: Molecular biology studies how tiny components like DNA and proteins work together in cells, helping us grasp the foundation of life processes and diseases.

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Molecular Pathology

fr: pathologie moléculaire

Molecular pathology is a branch of pathology that focuses on the study of molecules found in tissues or bodily fluids. The presence of certain molecules can provide information about a person’s health status.

Example: The lab used a variety of molecular pathology techniques to test for mutations in the tumour and arrive at a cancer diagnosis.

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Image showing various molecular targets used in cancer treatment.

Molecular Targets

fr: Cibles moléculaires

Molecular targets are specific molecules in the body that are closely associated with cancer processes. Different biological molecules can potentially serve as targets, including proteins, DNA, and RNA.

Example: In cancer treatment, identifying specific molecular targets allows for the development of precision therapies that aim to selectively disrupt the growth and survival of cancer cells while minimizing damage to healthy tissues.

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Image showing the steps involved in next generation sequencing

Next-Generation Sequencing

fr: Séquençage de nouvelle génération

See Massively Parallel Sequencing.

Example: Coding regions and select clinically significant non-coding regions of the BRCA1 gene was tested by NGS for genetic variants.

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Image showing the structure of Nucleic Acids

Nucleic Acids

fr: Acides nucléiques

Nucleic acids are the building blocks of DNA (deoxyribonucleic acid) and RNA (ribonucleic acid). DNA and RNA are polymers and they are made up of many nucleotides joined end-to-end.

Example: Nucleic acids, such as DNA and RNA, are essential molecules that carry genetic information and play crucial roles in various cellular processes, including protein synthesis and the storage of genetic instructions.

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Image showing the structure of nucleotides and how they make up nucleic acids.


fr: Nucléotide

A molecule that is the basic building block of the nucleic acids DNA and RNA. A nucleotide is made up of a nitrogen-containing base (adenine, guanine, thymine, and cytosine in DNA, and adenine, guanine, uracil, and cytosine in RNA), a phosphate group, and a sugar molecule (deoxyribose in DNA, and ribose in RNA). DNA and RNA are polymers made up of many nucleotides.

Example: DNA sequencing was used to identify the precise nucleotide that was mutated in the BRCA1 gene.

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Patient Partner

fr: patient partenaire

Patient partners have lived experience as a cancer patient, family member or caregiver. Patient partners bring their insight and perspective to a research project or organization.

Example: The hospital implemented a patient engagement initiative, appointing a patient partner to work closely with healthcare professionals, sharing their experiences and perspectives to improve the overall quality of care and services.

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Image showing the steps and process involved in conducting a PCR test in laboratory.

Polymerase Chain Reaction (PCR)

fr: Réaction en chaîne par polymérase (RAP)

Polymerase Chain Reaction (PCR) is a laboratory technique for creating millions or billions of copies of a specific piece of DNA.

Example: The laboratory conducted polymerase chain reaction (PCR) tests to amplify and analyze specific DNA sequences, allowing for the detection of genetic markers associated with the targeted disease.

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Image showing the peer reviewing process

Peer Review

fr: examen par les pairs

The process by which original articles and grants written by researchers are evaluated for technical and scientific quality and correctness by other experts in the same field.

Example: The scientist submitted their research paper for peer review, where other experts in the field examined and approved it before it could be published.

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Phase 1 Clinical Trials

fr: essais cliniques de phase 1

A phase I clinical trial tests the safety, side effects, best dose, and timing of a new treatment. It may also test the best way to give a new treatment (for example, by mouth, infusion into a vein, or injection) and how the treatment affects the body. Phase I clinical trials usually include only a small number of patients or healthy volunteers.

Example: The investigational drug successfully completed preclinical studies and has now advanced to phase 1 clinical trials, where its safety and dosage levels will be assessed in a small group of human volunteers.

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Phase 2 Clinical Trials

fr: essais cliniques de phase 2

Phase 2 clinical trials tests whether a new treatment works for a certain type of cancer or disease. Phase II trials may also provide more information about the safety of the new treatment and how the treatment affects the body. Phase 2 trials involve greater numbers of participants compared to phase 1 trials.

Example: Following promising results from phase 1 clinical trials, the experimental medication has progressed to phase 2 clinical trials, involving a larger group of participants to further evaluate its efficacy and safety profile.

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Phase 3 Clinical Trials

fr: essais cliniques de phase 3

Phase 3 clinical trials tests the safety and how well a new treatment works compared with a standard treatment. Treatments move into phase 3 clinical trials only after they meet the goals of phase 1 and phase 2 clinical trials. Phase 3 clinical trials may include hundreds of people.

Example: The pharmaceutical company is eagerly awaiting the results of the phase 3 clinical trials, the final stage of testing, to determine whether the new treatment meets the necessary criteria for regulatory approval.

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Phase 4 Clinical Trials

fr: essais cliniques de phase 4

Phase 4 clinical trials study the long-term side effects of a new treatment. Phase 4 clinical trials may include thousands of people.

Example: After regulatory approval, the novel medication entered phase 4 clinical trials, monitoring its real-world effectiveness and safety in a broader patient population to gather additional post-marketing data.

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fr: Phénotype

The phenotype constitutes the visible aspects of a person resulting from the instruction in their genome. In essence, the genotype serves as the underlying script, dictating what should be expressed at the phenotype (visible) level.

Example: In a recent study of breast cancer, the triple-negative phenotype was associated with tumors lacking expression of estrogen receptors, progesterone receptors, and HER2, influencing the prognosis and treatment approach for patients with this specific cancer phenotype.

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fr: placebo

A placebo is an inactive substance or treatment that looks like the real intervention but has no therapeutic effect. It is often used in clinical trials to compare the effects of the real treatment with no treatment at all.

Example: During the clinical trial, half of the participants were given the new intervention, while the other half received a placebo to evaluate the drug’s effectiveness in a controlled and unbiased manner.

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fr: plasma

Plasma is the liquid component of your blood that contributes to about 60% of your blood’s total volume. Plasma is necessary to help your body recover from injury, distribute nutrients, remove waste and prevent infection, while moving throughout your circulatory system.

Example: The laboratory technician carefully processed the blood sample, separating the red blood cells from the plasma, which contains various proteins and other components.

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Diagram showing the value in personalised / precision medicine.

Precision Medicine

fr: médecine de précision

Precision medicine is a medical approach that tailors treatment and prevention strategies to individual characteristics of each patient, such as genetics, environment, and lifestyle. The goal is to provide more effective and personalized healthcare.

Also called personalized medicine.

Example: The advancement of precision medicine allows healthcare providers to tailor treatment plans based on an individual’s genetic makeup, leading to more personalized and effective healthcare interventions.

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Preclinical Development Phase

fr: phase de développement préclinique

Research using cells or animals to find out if a drug, procedure, or treatment is likely to be useful. Preclinical studies take place before any testing in humans is done.

Example: Before a new drug can be tested on humans, it must undergo rigorous evaluation during the preclinical development phase to ensure its safety and effectiveness in cells or animals.

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Image showing the promoter regions on DNA.

Promoter Region

fr: région promotrice

A region of DNA before the first exon of a gene that tells the cell when the gene should be made in a process called transcription.

Example: DNA methylation in the promoter region prevented the gene from being expressed in the patient’s tumour.

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fr: protéomique

The study of the structure and function of proteins, including the way they work and interact with each other inside cells.

Example: The researchers used proteomics to study colorectal tumours and identify new cancer biomarkers.

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fr: protocole

A clinical trial protocol is a detailed plan that describes the objectives, design, methodology, and conduct of a clinical trial. The protocol includes who can participate, what treatments will be given, and how data will be collected and analyzed.

Example: Before starting the clinical trial, researchers carefully outlined the protocol, specifying the procedures, criteria, and ethical guidelines to ensure a standardized and well-controlled study.

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Image showing how a recessive gene in inherited genetically.


fr: récessif (masculine), récessive (feminine)

Individuals inherit two versions of each gene, known as alleles, from each parent. In the case of a recessive trait, the alleles of the trait-causing gene are the same, and both (recessive) alleles must be present to express the trait. A recessive allele does not produce a trait at all when only one copy is present. This contrasts to a dominant trait, which requires that only one of the two alleles be present to express the trait.

Example: While most cancer-related mutations are dominant and lead to abnormal cell growth, recessive mutations require both copies of a gene to be altered before contributing to the development of the disease.

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Refractory Cancer

fr: épisode réfractaire

Refractory cancer is cancer that fails to respond to treatment or continues to progress despite treatment. Refractory cancer may also be called resistant cancer.

Example: Despite undergoing multiple rounds of treatment, the patient’s cancer remained refractory, posing significant challenges for the medical team in finding an effective therapeutic approach.

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Image showing the structure of RNA

Ribonucleic Acid (RNA)

fr: Acide ribonucléique (ARN)

RNA stands for ribonucleic acid. It is a type of nucleic acid found in all the cells of your body. RNA can act as a messenger that instructs a cell how to produce a protein. Certain RNAs can also perform cellular functions on their own.

Example: In molecular pathology, researchers may examine RNA expression profiles to uncover abnormal patterns indicative of disease, allowing for a more precise understanding of the molecular mechanisms underlying pathological conditions.

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Single Nucleotide Polymorphism/ Single Nucleotide Variant (SNP, SNV)

fr: Polymorphisme nucléotidique unique/ Variante nucléotidique unique

SNPs and SNVs are variations in a single nucleotide at a specific position in the genome.

Example: The presence of specific single nucleotide polymorphisms within certain genes has been linked to an increased risk of developing certain types of cancer, highlighting the importance of genetic variation in cancer susceptibility and progression.

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fr: somatique

Cells that are not part of the germline are called somatic cells, and any changes to the DNA that occur within these cells are known as somatic variants. Somatic variants are not present in every cell in the body, and are not passed from parent to child.

Example: DNA sequencing of the BRAF gene revealed a somatic variant. Targeted therapy with a BRAF inhibitor should be considered.

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The Cancer Genome Atlas (TCGA)

fr: L’Atlas du génome du cancer

TCGA is a comprehensive database that catalogues genomic, transcriptomic, and epigenomic data from thousands of cancer patients across different cancer types. It serves as a valuable resource for cancer research and personalized medicine initiatives.

Example: The Cancer Genome Atlas (TCGA) project has provided researchers with a comprehensive database of genomic alterations across various cancer types, revolutionizing our understanding of cancer biology and informing the development of personalized cancer treatments.

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fr: Tissulaire

A group or layer of cells that work together to perform a specific function.

Example: The pathologist carefully examined the tissue obtained during the biopsy, analyzing cellular structures and identifying any abnormalities to provide an accurate diagnosis of the patient’s medical condition.

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Tumour Mutational Burden (TMB)

fr: Charge mutationnelle tumorale

TMB is a measure of the total number of mutations present in the DNA of tumor cells. It is used as a biomarker to assess the overall mutational load of a tumor and may correlate with response to immunotherapy and prognosis in certain cancers.

Example: The tumor mutational burden is being increasingly recognized as a predictive biomarker for response to certain immunotherapy treatments in cancer patients.

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Image showing the change in a DNA sequence between 2 individuals, indicating a variant.


fr: Une variante

Any change in the DNA sequence of a cell. Variants may be caused by mistakes during cell division, or they may be caused by exposure to DNA-damaging agents in the environment. Variants can be harmful, beneficial, or have no effect. If they occur in cells that make eggs or sperm, they can be inherited; if variants occur in other types of cells, they are not inherited. Certain variants may lead to cancer or other diseases. A variant is sometimes called a mutation.

Example: Scientists analyze the genetic material of individuals to identify and characterize genetic variants that may be associated with increased susceptibility to certain diseases.

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Variant Allele Frequency (VAF)

fr: Variante de fréquence des allèles

VAF is the proportion of sequencing reads that contain a specific genetic variant relative to the total number of reads covering that position. It provides information about the abundance of a variant within a sample.

Example: In analyzing the genetic makeup of the tumor, researchers observed a high variant allele frequency, indicating a significant proportion of mutated alleles present in the tumor sample compared to normal tissue.

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