Cancer in the 21st Century: the Genomic Revolution

Course Glossary
ablation Removal or destruction of tissue.
acetylation (protein) The addition of an acetyl group to a protein, carried out by acetylase enzymes and reversed by deacetylase enzymes.
adenocarcinoma Cancer which develops from glandular epithelium lining tubes
adjuvant treatment A treatment which is given together with, or following, another treatment. Commonly refers to chemotherapy after surgery.
aerobic In the presence of oxygen.
aflatoxin A type of mycotoxin produced by Aspergillus moulds.
alkylating agents A type of chemotherapy. See Chemotherapy article in week 4 for detailed description and examples.
Polymerase chain reaction is a technique used to amplify DNA. Allele-specific PCR only amplifies DNA which contains a
allele-specific PCR particular sequence, and is used to test for specific mutations in a patient sample.
The building blocks of proteins. The sequence of the gene encoding a protein determines its amino acid sequence. The
amino acids physical and chemical properties of the amino acids determine the functions of the protein.
amplification (of gene) An increase in the number of copies per cell of a gene.
anabolism The metabolic synthesis of large molecules from smaller components; requires energy.
anaemia/anemia Lack of red blood cells or haemoglobin.
analogue A drug which acts in the same way as an endogenous molecule or hormone.
anastomosis Connection between different channels, tubes or vessels.
androgens Male sex hormones, such as testosterone.
angiogenesis New blood vessel formation.
antibody A protein produced in response to a specific antigen.
antigen A foreign substance which induces an immune response in the body, in particular the production of antibodies
anti-inflammatory Able to reduce inflammation, including by dampening the reaction of the immune system.
antimetabolite A type of chemotherapy. See Chemotherapy article in week 4 for detailed description and examples.
apoptosis Programmed cell death, or cell 'suicide'.
aromatase inhibitors A type of drug which inhibits the enzyme aromatase, lowering the level of estrogen.
ATP Adenosine triphosphate, the energy store and transfer molecule used by living cells.
atrophy A decrease in cell size.
benign Tumour which does not have the ability to migrate away from site of origin.
bilateral Found on both sides of the body e.g. breast cancer affecting both breasts.
bioinformatics A computer science discipline aimed at creating algorithms to analyse and interpret complex biological data.
A type of drug used to treat cancer which specifically targets molecules needed for cancer development rather than
biological or targeted therapy targeting all fast-growing cells.
biomarker A molecule which can be measured and which correlates with the presence of particular types and sub-types of cancer.
biopsy Using needles or surgery to remove a small part of a tumour in order to analyse it.
bone scans Nuclear scan to look for abnormalities in bone, such as cancer.
cancer cell or tumour cell A cell in which mutations have arisen to allow it gain some hallmarks of cancer.
cancer genomics The study of the cancer genome
cancer stem cell A cell within a cancer which can both self-renew, and give rise to the other cells in the cancer.
cancer Clinical disease characterised by the presence of one or more neoplastic tumour growth.
capillaries Very narrow blood vessels in the tissues.
carcinoembryonic antigen A cancer biomarker.
carcinoma A cancer from epithelial cell origin.
case control study Study that compares patients who have a disease with controls who do not have the disease.
catabolism The metabolic breakdown of complex molecules to produce smaller molecules and energy.
causation A linking between a cause and an effect e.g. smoking and lung cancer.
cell division The division of a cell into 2 daughter cells, after it has replicated its DNA.
cell line Cells which are able to keep dividing indefinitely in culture. They are commonly used in scientific research.
A piece of laboratory equipment which separates cells or subcellular components from a mixed sample, based on their
centrifuge density.
checkpoint A control mechanism allowing cells to check for DNA damage and other parameters before continuing with the cell cycle.
chemotherapy A class of cancer treatment drugs which stops rapidly dividing cells from multiplying and causes them to die.
chromatin The components of chromosomes, ie: DNA and associated proteins and RNA.
 Structures within the cell's nucleus that contain the cell's DNA bound to proteins (mainly histones); package the cell's DNA
chromosome into a small volume.
citric acid cycle (Kreb's cycle, A metabolic pathway that uses Acetyl CoA (from pyruvate generated in glycolysis) to generate carbon dioxide and, in
TCA cycle) cooperation with oxidative phosphorylation, energy (ATP).
A multistep process through which cells accumulate mutations, and cells with mutations that are favourable for growth
clonal evolution become dominant in the cell population. One model of how cancer develops.
clone A population of cells derived from one single cell, so that every cell is genetically identical.
cobalt A source of gamma rays for radiotherapy.
codon A group of three adjacent nucleotides in DNA or RNA which can code for one amino acid; the basic unit of the genetic code.
COBAS A piece of laboratory equipment used for diagnosis of specific cancer-causing mutations in a patient sample.
cohort A group.
combination therapy The use of more than one treatments together to treat cancer. Usually refers to a mix of chemotherapies.
connective tissue Supportive tissue - includes bone, cartilage, fat, blood vessels, and fibrous tissue.
constitutively active Active all the time, not subject to normal regulation
consultand The person in the family who is seeking medical advice.
cost utility A type of financial analysis used to determine procurement of therapeutics based on their cost and utility (efficacy).
CpG dinucleotides G-C base pairs, linked by a phosphodiester bond (see ‘DNA base’).
CT or CAT scan Computerised tomography. A series of X-rays are computerised to show the inside of the body.
curative treatment A type of treatment which aims to remove cancer from the patient, so that the patient is cured from cancer.
cyclin dependent kinase These enzymes phosphorylate the proteins within the cell that carry out and control the various steps in the cell cycle
Therapy which causes death in cells going through the cell cycle, thus helps to protect normal cells from the effects of
cyclotherapy chemotherapy.
cytology The analysis of samples of cells from a tumour.
cytotoxic A type of drug which kills cells. Often refers to chemotherapy drugs.
deacetylation Removal of acetyl group, opposite of acetylation
diagnosis Determining whether a patient has cancer and, if so, which type and sub-type.
The process through which a non-specialised cell changes into a specialised cell type (e.g. progenitor blood cell changing
differentiation into a mature B-lymphocyte).
DNA base A nucleotide. A single component of the DNA code. Can be A, T, G, or C.
 Damage to the cell’s DNA, can include single or double stranded breaks. Can be repaired or can result in mutations or even
DNA damage cell death.
DNA polymerase Enzyme which synthesizes DNA from constituent molecules.
DNA repair Repair of damaged DNA by a series of enzyme and molecules.
DNA Deoxyribonucleic acid. Made up of DNA bases and codes for all our genes.
dominant A genetic condition in which only one mutated copy is required to be inherited for an individual to display symptoms.
dose response Effect of a drug on an organism at different concentrations.
driver mutation A mutation that confers a selective growth advantage on the cell and thus can contribute to cancer.
dysplasia A benign tumour of epithelial cells or melanocytes.
efficacy Measure of a drug's ability to produce the desired effect.
EGFR Cell surface receptor for the EGF growth factor; mutated EGFR can act as an oncogene.
endocrine therapy Therapy which modulates hormone levels or activity in order to treat hormone-dependent cancers.
endogenous Produced from within.
endoscope A clinical tool used to visualise inside the body, consisting of a flexible tube with a camera at the end.
A protein or other molecule produced by a cell that catalyses a chemical reaction; examples include proteases, kinases, and
enzyme methylases.
epidemiology The study of how often diseases occur in a population and why.
epigenetics The study of heritable changes in gene expression and function that are not DNA sequence changes.
epigenome The total of all epigenetic modifications in a cell.
epithelium A type of tissue which lines most of the internal and external surfaces of the body
estrogen receptor Steroid receptor for estrogen. Estrogen can only act by binding to the receptor.
estrogen/oestrogen Female sex hormone, released from the ovaries, which stimulates growth of the breast epithelium.
exome The sum total of all the exons in the genome.
Parts of the genome that remain in mature RNA after transcription and RNA processing steps including intron removal.
exon Includes but is not limited to protein-coding regions.
The structural mesh of proteins, glycoproteins and proteoglycans which is produced by cells, and which surrounds cells
extracellular matrix within a tissue.
extracellular Outwith the cell
familial Inherited
 Fluorescence in-situ hybridisation. A technique used to locate specific DNA (and RNA) sequences within a cell, for instance
FISH to visualise a particular gene on a chromosome.
flow cytometry A method of measuring properties of cells in a sample.
free radicals An uncharged molecule with an unpaired electron. Highly reactive. Reactive oxygen species are a type of free radical.
gain of function A mutation which gives a gene/protein a function which the wild-type does not have.
gene chip array A scientific tool which allows thousands of DNA sequences to be assessed in one experiment.
gene expression The transcription of DNA of a gene into mRNA and protein.
gene A DNA sequence which codes for a functional RNA. Usually this RNA will code for a protein.
Process by which individuals are given information about an inherited condition, risks of recurrence, therapy and
genetic counselling prophylactic measures.
genetically engineered Organism in which the DNA sequence has been altered specifically.
genome All the chromosomes of an individual.
genomics The study of the genome.
genotoxic agent Chemical which can damage the genetic material within a cell.
Relating to reproductive cells. Any changes in a reproductive cell (egg or sperm) will be passed on to the offspring
germ-line originating from that cell.
glycolysis The metabolic pathway that converts glucose into pyruvate, NADH, and ATP (energy), occurs in the cytoplasm.
grade A measure of the appearance of cancer cells.
growth factor A protein which binds to specific receptors on target cells and stimulates growth and proliferation.
H&E Hematoxylin and eosin stain. The most common type of stain used in histology.
hallmarks of cancer Characteristic alterations of normal cell function which must occur in order for a cell to become cancerous.
HER2 Receptor for EGF, a growth factor involved in cancer.
heritable A characteristic which is passed on from parent to offspring.
heterogeneity The state of being heterogeneous, i.e. consisting of dissimilar parts rather than multiple identical parts.
histology Microscopic study of the anatomy of tissues and cells.
histone Protein around which DNA packs, affecting its ability to be transcribed.
homeostasis Control of internal conditions, maintaining them at a stable level.
hyperplasia An increase in the number of cells.
hypertrophy An increase in the size of cells.
hypoxic / hypoxia Low levels of or lack of oxygen.
IHC Immunohistochemistry. A scientific technique used to detect the presence of specific protein or markers on cancer tumours.
Imatinib (gleevec) A drug used to treat multiple cancers. The first example of a tyrosine kinase inhibitor as a targeted cancer therapy.
immunogenic Likely to trigger activation of the body's immune system defences.
immunohistochemistry A laboratory technique that uses antibodies to detect a particular protein of interest in a tissue sample.
immunosuppression Suppression of immune system responses.
immunosuppressive Suppresses the activity of the body's immune system.
in situ Situated in place of origin.
incidence The number of new cases in a population over a defined period of time.
incidence The number of new cases in a population in a defined period of time.
inflammation Protective response of the body against harm.
inoperable breast cancer Breast cancer which cannot be treated with surgery due to its extent or location.
intercalating agent A type of chemotherapy. See Chemotherapy article in week 4 for detailed description and examples.
interphase Stage of the cell cycle where the cell prepares for cell division by duplicating its DNA
intracellular Within the cell
ionising radiation Radiation with high energy particles which can ionise the tissue they travel through.
karyotyping Examination of the chromosomes to look for large-scale mutations. Usually performed at metaphase stage of the cell cycle.
leukemia Cancer of the blood.
A molecule that specifically binds to a receptor. For example, each growth factor is the ligand for a specific growth factor
ligand receptor.
local treatment Treatment which only affects an area of the body. Opposite of systemic treatment.
lymph node Small bodies located along the lymph vessels which drain interstitial fluid.
lymphadenectomy Removal of one or more lymph nodes by surgery.
lymphatics (lymphatic vessels) The parts of the circulatory system that carry lymph, which is a plasma-like fluid containing white blood cells.
lymphatics Vessels which carry lymph fluid to the lymph nodes and eventually back into the blood circulation.
lymphoma Cancer of the lymph nodes.
macromolecular biosynthesis Synthesis of large biological molecules such as nucleic acids and proteins.
malignancy / malignant
disease Cancer which has spread from the primary site to secondary sites.
 Surgery which has not completely removed the tumour tissue, as there are still tumour cells present at the margins or
margin positive resection edges.
margin-free resection When the margins of the resection have no tumour cells in them, meaning the entire tumour has been removed
mass spectroscopy A scientific technique which allows determination of the chemical components of a sample.
mastectomy Surgical removal of one or both breasts.
melanoma Tumour of melanin forming cells, a type of skin cancer.
metabolism The chemical reactions occurring within a living cell or organism; made up of anabolism and catabolism
metaphase Stage of cell division during which the chromosomes become attached to the spindle fibres.
metaplasia A change from one cell type to another.
metastasis Spread of a primary tumour to other organs or sites.
The addition of a methyl group to DNA or protein, carried out by methylase enzymes and reversed by demethylase
methylation (DNA or protein) enzymes.
microenvironment The immediate small-scale environment of a cell or tumour.
micrometastases Very small metastases which cannot yet be detected or visualised.
mismatch repair Cellular system which corrects incorrect DNA bases, such as those inserted in error during DNA replication.
missense mutation A single nucleotide change in DNA, which alters the amino acid sequence of the encoded protein. A type of point mutation.
mitosis Normal cell division for cell proliferation whereby a cell generates two daughter cells.
mitotic catastrophe Event which occurs when a cell tries to divide despite having damaged DNA. Usually leads to its death.
mitotic figure Cells visibly undergoing mitosis on biopsy sections.
modality of therapy A type of therapy
molecular pathology The science of analysing diseased tissue using molecular techniques such as PCR or transcriptomics.
A protein produced by immune cells that recognises and bind to only one specific target. Can be produced artificially and
monoclonal antibody are used as therapies because of their specificity.
mortality The death rate.
MRI scan Magnetic resonance imaging. Uses powerful magnets to generate an image of the inside of the body.
mutation A change in the normal DNA sequence.
myc An important oncogene; a transcription factor.
neo-adjuvant therapy Treatment to reduce tumour size before surgery.
neoplasia An abnormal mass of tissue of which cancer is one type.
next-generation sequencing Technologies that can sequence an entire cell genome in a few days
non-curative Tumour or cancer which cannot be cured with current available therapies.
nucleic acids DNA and RNA.
nucleosome A unit of a chromosome, including the DNA and its associated histone proteins.
nucleus The membrane-bound organelle within a cell which contains the genetic material
oncogene A gene which can induce cancer.
oncologist A medical professional specialising in cancer management and treatment.
oncology The study and treatment of cancer.
oxidation A particular type of chemical reaction, often involving oxygen.
oxidative phosphorylation The metabolic reactions that occur within the mitochondrion in the presence of oxygen to produce ATP.
p53 An important tumour suppressor gene; a transcription factor.
Treatment for a cancer which cannot be cured. The aim of the treatment is to ease pain and symptoms and prolong life, but
palliative treatment not to cure the cancer.
pap smear A sample of cervical epithelium cells is taken and analysed to look for the very early stages of cervical cancer.
A mutation that confers no selective growth advantage on the cell and thus does not contribute to cancer, even when found
passenger mutation in a cancer cell
pathology The science of analysing diseased tissue.
pedigree Family tree.
Positron emission tomography. Produces detailed 3-D images of the body, and can show how effectively some parts of the
PET scan body are functioning.
Clinical trials, carried out in humans, which test the safety and efficacy of a new drug candidate. See section 5.20 for
phase I, II and III trials explanation of the different types.
phospholipid A type of lipid (fat) that is especially important in making cell membranes.
The addition of a phosphate group to a protein, carried out by protein kinase enzymes and reversed by protein phosphatase
phosphorylation (protein) enzymes. Can alter protein function, e.g. may activate the target protein.
Photon beam A high energy X-ray beam. The dose given is measured in units called Grays (Gy).
placebo A 'dummy' drug, used as a control in clinical trials.
Point mutations Mutation of a single base pair (nucleotide).
polymerase (RNA and DNA) Enzyme which allows DNA to be copied (DNA polymerase) or transcribed to RNA (RNA polymerase).
polysomy The presence of multiple copies of a chromosome instead of the normal 2 copies per cell.
precision medicine See targeted therapy.
precursors Cells which are more differentiated than stem cells but can differentiate into more mature cells.
prevalence The proportion of people affected in a population at any given time.
prevalence ratio The number of people with a specific cancer divided by those who were risk of it
primary cancer The initial tumour or site where the cancer originated.
progenitor cell A cell which can give rise to many other types of cells; a stem cell.
progesterone A female sex hormone release from the ovary.
prognosis A prediction about the clinical outcome for the patient.
prognostic Predictive
proliferation Cell multiplication.
promoter (of gene) The DNA sequence that controls the transcription of a gene, usually found near the start of the gene.
prophylactic Preventative.
proteasome A complex of proteases which selectively destroy proteins in the cell.
protein A chain of amino acids, which is encoded by mRNA.
proteomics The study of all the proteins in a sample.
proton A sub-atomic particle, part of all atom nuclei.
proto-oncogene The normal cellular version of a gene which, when mutated, can become an oncogene.
quality adjusted life year A measure of disease burden, including both the quality and the quantity of life lived. Used in assessing the value for money
(QALY) of a medical intervention.
quality adjusted life years A measure of disease burden, based on both the number of years of life expected, and the quality of life of those years.
radiation oncology The use of ionising radiation to treat cancer. Also referred to as radiotherapy.
radiotherapy dose The total amount of radiation applied to tumour or normal tissues.
radium A radioactive metal used to generate radiation.
randomized control trial A scientific study to help determine whether a drug has real benefit.
receptor A protein, usually at the cell surface, which binds to specific signals from outside the cell, such as growth factors.
recessive A genetic condition in which two mutated copies are required to be inherited for an individual to display symptoms.
recurrent disease Disease which returns after it has been reduced or has completely disappeared due to treatment.
remission A cancer is said to be in remission if the symptoms and lump reduce or disappear.
replication (of DNA) The duplication of DNA during mitosis to allow cell division to occur correctly.
resection Removal of tissue by surgery.
retinoblastoma Cancer which develops from the immature cells of the retina.
ribosomal proteins Proteins which, along with rRNA are involved in translation of mRNA to protein.
A scientific technique allowing determination of the RNA components of a sample. DNA and protein arrays are also
RNA microarray available.
RNA Ribonucleic acid. Transcribed from DNA and translated into proteins.
sarcoma Malignant connective tissue tumour.
screening A programme aimed at diagnosing cancer before any signs and symptoms have appeared.
secondary cancer A tumour that has spread from a primary site to a different site or organ.
senescence A resting state, where cells remain viable, but no longer progress through the cell cycle and lose their ability to replicate.
side effect Effect of a drug which is not the main desired effect.
signalling cascade A series of chain reactions used to amplify and transmit a signal within a cell. Also called a signal transduction pathway.
signature An array of gene expression or mutations, which is characteristic of a particular cancer type or sub-type.
single nucleotide
polymorphism SNP, a single base pair mutation found in the population.
somatic Relating to the cells of the body, as opposed to relating to germ line (reproductive) cells.
sporadic Not inherited.
stage Measure of how invasive a cancer has become.
stem cell A progenitor cell which can self-renew, and generates all other cell types in a particular tissue.
Medicine based on sorting patients into different sub-groups, for which certain treatments are known to work particularly
stratified medicine well or poorly.
The cells (such as fibroblasts, endothelial cells and immune cells) and their associated extracellular matrix, that support a
stromal cells tissue or tumour
subcutaneous injection Injection through the skin into the tissues below.
surgical resection The removal of a section of tissue by surgery in order to remove a tumour.
survival factor A signal from outwith the cell that promotes cell survival / prevents cell death.
synthetic lethality When a combination of mutations in two or more genes leads to cell death, but the individual mutations alone do not.
systemic therapy Therapy that affects the entire body.
 targeted therapy
tissue microarray
topoisomerase I and II
transcription factor
transcription
transcriptional target
transcriptome
transcriptomics
translation
translational research
translocation
transporters
tumour microenvironment
tumour suppressor gene
tumour
tyrosine kinase
ubiquitination
ulcerating secondary growth
vasculature
wild-type
© University of Glasgow
See biological therapy.
Many small tissue samples arranged so that they can be analysed in multiple different experiments at once.
An enzyme which unwinds DNA, and a target for chemotherapy.
A protein which binds to DNA and regulates the transcription of a gene.
The synthesis of mRNA from a DNA template.
A gene whose transcription is affected positively or negatively by the gene or protein in question.
The total of all RNA molecules expressed in a particular cell type.
The study of all the RNAs in a sample.
The synthesis of protein from an mRNA template.
Research which bridges basic science and clinical applications.
The rearrangement of parts of chromosomes, which results in fusing together sections of DNA that would not normally be
adjacent.
Proteins that transport specific molecules (e.g. drugs, metabolic intermediates) either into / out of the cell, or into / out of
particular compartments (organelles) within the cell.
The cells, molecules, and blood vessels that surround a tumour cell.
A gene which slows cell proliferation, and when inactivated, increases the chances of cancer developing.
A lump formed from cancer cells.
An enzyme that adds a phosphate group to tyrosine residues on target proteins, altering their function. Often involved in
growth factor signalling pathways.
The addition of the small protein ubiquitin to another protein.
Secondary tumour which has broken through the skin and grows in the shape of a cauliflower.
Blood vessels.
Original, non-mutant sequence or state.