Cancer in the 21st Century: the Genomic Revolution

Course Glossary
ablation
acetylation (protein)
adenocarcinoma
adjuvant treatment
aerobic
aflatoxin
alkylating agents

Removal or destruction of tissue.

The addition of an acetyl group to a protein, carried out by acetylase enzymes and reversed by deacetylase enzymes.
Cancer which develops from glandular epithelium lining tubes
A treatment which is given together with, or following, another treatment. Commonly refers to chemotherapy after surgery.
In the presence of oxygen.
A type of mycotoxin produced by Aspergillus moulds.
A type of chemotherapy. See Chemotherapy article in week 4 for detailed description and examples.

allele-specific PCR

Polymerase chain reaction is a technique used to amplify DNA. Allele-specific PCR only amplifies DNA which contains a
particular sequence, and is used to test for specific mutations in a patient sample.

amino acids
amplification (of gene)
anabolism
anaemia/anemia
analogue
anastomosis
androgens
angiogenesis
antibody
antigen
anti-inflammatory
antimetabolite
apoptosis

The building blocks of proteins. The sequence of the gene encoding a protein determines its amino acid sequence. The
physical and chemical properties of the amino acids determine the functions of the protein.
An increase in the number of copies per cell of a gene.
The metabolic synthesis of large molecules from smaller components; requires energy.
Lack of red blood cells or haemoglobin.
A drug which acts in the same way as an endogenous molecule or hormone.
Connection between different channels, tubes or vessels.
Male sex hormones, such as testosterone.
New blood vessel formation.
A protein produced in response to a specific antigen.
A foreign substance which induces an immune response in the body, in particular the production of antibodies
Able to reduce inflammation, including by dampening the reaction of the immune system.
A type of chemotherapy. See Chemotherapy article in week 4 for detailed description and examples.
Programmed cell death, or cell 'suicide'.

aromatase inhibitors
ATP
atrophy
benign
bilateral
bioinformatics
biological or targeted therapy
biomarker
biopsy
bone scans
cancer cell or tumour cell
cancer genomics
cancer stem cell
cancer
capillaries
carcinoembryonic antigen
carcinoma
case control study
catabolism
causation
cell division
cell line
centrifuge
checkpoint
chemotherapy
chromatin

A type of drug which inhibits the enzyme aromatase, lowering the level of estrogen.
Adenosine triphosphate, the energy store and transfer molecule used by living cells.
A decrease in cell size.
Tumour which does not have the ability to migrate away from site of origin.
Found on both sides of the body e.g. breast cancer affecting both breasts.
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
targeting all fast-growing cells.
A molecule which can be measured and which correlates with the presence of particular types and sub-types of cancer.
Using needles or surgery to remove a small part of a tumour in order to analyse it.
Nuclear scan to look for abnormalities in bone, such as cancer.
A cell in which mutations have arisen to allow it gain some hallmarks of cancer.
The study of the cancer genome
A cell within a cancer which can both self-renew, and give rise to the other cells in the cancer.
Clinical disease characterised by the presence of one or more neoplastic tumour growth.
Very narrow blood vessels in the tissues.
A cancer biomarker.
A cancer from epithelial cell origin.
Study that compares patients who have a disease with controls who do not have the disease.
The metabolic breakdown of complex molecules to produce smaller molecules and energy.
A linking between a cause and an effect e.g. smoking and lung cancer.
The division of a cell into 2 daughter cells, after it has replicated its DNA.
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
density.
A control mechanism allowing cells to check for DNA damage and other parameters before continuing with the cell cycle.
A class of cancer treatment drugs which stops rapidly dividing cells from multiplying and causes them to die.
The components of chromosomes, ie: DNA and associated proteins and RNA.

chromosome

Structures within the cell's nucleus that contain the cell's DNA bound to proteins (mainly histones); package the cell's DNA
into a small volume.

citric acid cycle (Kreb's cycle,

TCA cycle)

A metabolic pathway that uses Acetyl CoA (from pyruvate generated in glycolysis) to generate carbon dioxide and, in
cooperation with oxidative phosphorylation, energy (ATP).

clonal evolution
clone
cobalt
codon
COBAS
cohort
combination therapy
connective tissue
constitutively active
consultand
cost utility
CpG dinucleotides
CT or CAT scan
curative treatment
cyclin dependent kinase

A multistep process through which cells accumulate mutations, and cells with mutations that are favourable for growth
become dominant in the cell population. One model of how cancer develops.
A population of cells derived from one single cell, so that every cell is genetically identical.
A source of gamma rays for radiotherapy.
A group of three adjacent nucleotides in DNA or RNA which can code for one amino acid; the basic unit of the genetic code.
A piece of laboratory equipment used for diagnosis of specific cancer-causing mutations in a patient sample.
A group.
The use of more than one treatments together to treat cancer. Usually refers to a mix of chemotherapies.
Supportive tissue - includes bone, cartilage, fat, blood vessels, and fibrous tissue.
Active all the time, not subject to normal regulation
The person in the family who is seeking medical advice.
A type of financial analysis used to determine procurement of therapeutics based on their cost and utility (efficacy).
G-C base pairs, linked by a phosphodiester bond (see DNA base).
Computerised tomography. A series of X-rays are computerised to show the inside of the body.
A type of treatment which aims to remove cancer from the patient, so that the patient is cured from cancer.
These enzymes phosphorylate the proteins within the cell that carry out and control the various steps in the cell cycle

cyclotherapy
cytology
cytotoxic
deacetylation
diagnosis

Therapy which causes death in cells going through the cell cycle, thus helps to protect normal cells from the effects of
chemotherapy.
The analysis of samples of cells from a tumour.
A type of drug which kills cells. Often refers to chemotherapy drugs.
Removal of acetyl group, opposite of acetylation
Determining whether a patient has cancer and, if so, which type and sub-type.

differentiation
DNA base

The process through which a non-specialised cell changes into a specialised cell type (e.g. progenitor blood cell changing
into a mature B-lymphocyte).
A nucleotide. A single component of the DNA code. Can be A, T, G, or C.

DNA damage
DNA polymerase
DNA repair
DNA
dominant
dose response
driver mutation
dysplasia
efficacy
EGFR
endocrine therapy
endogenous
endoscope

Damage to the cells DNA, can include single or double stranded breaks. Can be repaired or can result in mutations or even
cell death.
Enzyme which synthesizes DNA from constituent molecules.
Repair of damaged DNA by a series of enzyme and molecules.
Deoxyribonucleic acid. Made up of DNA bases and codes for all our genes.
A genetic condition in which only one mutated copy is required to be inherited for an individual to display symptoms.
Effect of a drug on an organism at different concentrations.
A mutation that confers a selective growth advantage on the cell and thus can contribute to cancer.
A benign tumour of epithelial cells or melanocytes.
Measure of a drug's ability to produce the desired effect.
Cell surface receptor for the EGF growth factor; mutated EGFR can act as an oncogene.
Therapy which modulates hormone levels or activity in order to treat hormone-dependent cancers.
Produced from within.
A clinical tool used to visualise inside the body, consisting of a flexible tube with a camera at the end.

enzyme
epidemiology
epigenetics
epigenome
epithelium
estrogen receptor
estrogen/oestrogen
exome

A protein or other molecule produced by a cell that catalyses a chemical reaction; examples include proteases, kinases, and
methylases.
The study of how often diseases occur in a population and why.
The study of heritable changes in gene expression and function that are not DNA sequence changes.
The total of all epigenetic modifications in a cell.
A type of tissue which lines most of the internal and external surfaces of the body
Steroid receptor for estrogen. Estrogen can only act by binding to the receptor.
Female sex hormone, released from the ovaries, which stimulates growth of the breast epithelium.
The sum total of all the exons in the genome.

exon
extracellular matrix
extracellular
familial

Parts of the genome that remain in mature RNA after transcription and RNA processing steps including intron removal.
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
within a tissue.
Outwith the cell
Inherited

FISH
flow cytometry
free radicals
gain of function
gene chip array
gene expression
gene

Fluorescence in-situ hybridisation. A technique used to locate specific DNA (and RNA) sequences within a cell, for instance
to visualise a particular gene on a chromosome.
A method of measuring properties of cells in a sample.
An uncharged molecule with an unpaired electron. Highly reactive. Reactive oxygen species are a type of free radical.
A mutation which gives a gene/protein a function which the wild-type does not have.
A scientific tool which allows thousands of DNA sequences to be assessed in one experiment.
The transcription of DNA of a gene into mRNA and protein.
A DNA sequence which codes for a functional RNA. Usually this RNA will code for a protein.

genetic counselling
genetically engineered
genome
genomics
genotoxic agent

Process by which individuals are given information about an inherited condition, risks of recurrence, therapy and
prophylactic measures.
Organism in which the DNA sequence has been altered specifically.
All the chromosomes of an individual.
The study of the genome.
Chemical which can damage the genetic material within a cell.

germ-line
glycolysis
grade
growth factor
H&E
hallmarks of cancer
HER2
heritable
heterogeneity
histology
histone
homeostasis
hyperplasia
hypertrophy

Relating to reproductive cells. Any changes in a reproductive cell (egg or sperm) will be passed on to the offspring
originating from that cell.
The metabolic pathway that converts glucose into pyruvate, NADH, and ATP (energy), occurs in the cytoplasm.
A measure of the appearance of cancer cells.
A protein which binds to specific receptors on target cells and stimulates growth and proliferation.
Hematoxylin and eosin stain. The most common type of stain used in histology.
Characteristic alterations of normal cell function which must occur in order for a cell to become cancerous.
Receptor for EGF, a growth factor involved in cancer.
A characteristic which is passed on from parent to offspring.
The state of being heterogeneous, i.e. consisting of dissimilar parts rather than multiple identical parts.
Microscopic study of the anatomy of tissues and cells.
Protein around which DNA packs, affecting its ability to be transcribed.
Control of internal conditions, maintaining them at a stable level.
An increase in the number of cells.
An increase in the size of cells.

hypoxic / hypoxia
IHC
Imatinib (gleevec)
immunogenic
immunohistochemistry
immunosuppression
immunosuppressive
in situ
incidence
incidence
inflammation
inoperable breast cancer
intercalating agent
interphase
intracellular
ionising radiation
karyotyping
leukemia
ligand
local treatment
lymph node
lymphadenectomy
lymphatics (lymphatic vessels)
lymphatics
lymphoma
macromolecular biosynthesis
malignancy / malignant
disease

Low levels of or lack of oxygen.

Immunohistochemistry. A scientific technique used to detect the presence of specific protein or markers on cancer tumours.
A drug used to treat multiple cancers. The first example of a tyrosine kinase inhibitor as a targeted cancer therapy.
Likely to trigger activation of the body's immune system defences.
A laboratory technique that uses antibodies to detect a particular protein of interest in a tissue sample.
Suppression of immune system responses.
Suppresses the activity of the body's immune system.
Situated in place of origin.
The number of new cases in a population over a defined period of time.
The number of new cases in a population in a defined period of time.
Protective response of the body against harm.
Breast cancer which cannot be treated with surgery due to its extent or location.
A type of chemotherapy. See Chemotherapy article in week 4 for detailed description and examples.
Stage of the cell cycle where the cell prepares for cell division by duplicating its DNA
Within the cell
Radiation with high energy particles which can ionise the tissue they travel through.
Examination of the chromosomes to look for large-scale mutations. Usually performed at metaphase stage of the cell cycle.
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
receptor.
Treatment which only affects an area of the body. Opposite of systemic treatment.
Small bodies located along the lymph vessels which drain interstitial fluid.
Removal of one or more lymph nodes by surgery.
The parts of the circulatory system that carry lymph, which is a plasma-like fluid containing white blood cells.
Vessels which carry lymph fluid to the lymph nodes and eventually back into the blood circulation.
Cancer of the lymph nodes.
Synthesis of large biological molecules such as nucleic acids and proteins.
Cancer which has spread from the primary site to secondary sites.

methylation (DNA or protein)

microenvironment
micrometastases
mismatch repair
missense mutation
mitosis
mitotic catastrophe
mitotic figure
modality of therapy
molecular pathology

Surgery which has not completely removed the tumour tissue, as there are still tumour cells present at the margins or
edges.
When the margins of the resection have no tumour cells in them, meaning the entire tumour has been removed
A scientific technique which allows determination of the chemical components of a sample.
Surgical removal of one or both breasts.
Tumour of melanin forming cells, a type of skin cancer.
The chemical reactions occurring within a living cell or organism; made up of anabolism and catabolism
Stage of cell division during which the chromosomes become attached to the spindle fibres.
A change from one cell type to another.
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
enzymes.
The immediate small-scale environment of a cell or tumour.
Very small metastases which cannot yet be detected or visualised.
Cellular system which corrects incorrect DNA bases, such as those inserted in error during DNA replication.
A single nucleotide change in DNA, which alters the amino acid sequence of the encoded protein. A type of point mutation.
Normal cell division for cell proliferation whereby a cell generates two daughter cells.
Event which occurs when a cell tries to divide despite having damaged DNA. Usually leads to its death.
Cells visibly undergoing mitosis on biopsy sections.
A type of therapy
The science of analysing diseased tissue using molecular techniques such as PCR or transcriptomics.

monoclonal antibody
mortality
MRI scan
mutation
myc
neo-adjuvant therapy
neoplasia

A protein produced by immune cells that recognises and bind to only one specific target. Can be produced artificially and
are used as therapies because of their specificity.
The death rate.
Magnetic resonance imaging. Uses powerful magnets to generate an image of the inside of the body.
A change in the normal DNA sequence.
An important oncogene; a transcription factor.
Treatment to reduce tumour size before surgery.
An abnormal mass of tissue of which cancer is one type.

margin positive resection

margin-free resection
mass spectroscopy
mastectomy
melanoma
metabolism
metaphase
metaplasia
metastasis

next-generation sequencing
non-curative
nucleic acids
nucleosome
nucleus
oncogene
oncologist
oncology
oxidation
oxidative phosphorylation
p53

Technologies that can sequence an entire cell genome in a few days

Tumour or cancer which cannot be cured with current available therapies.
DNA and RNA.
A unit of a chromosome, including the DNA and its associated histone proteins.
The membrane-bound organelle within a cell which contains the genetic material
A gene which can induce cancer.
A medical professional specialising in cancer management and treatment.
The study and treatment of cancer.
A particular type of chemical reaction, often involving oxygen.
The metabolic reactions that occur within the mitochondrion in the presence of oxygen to produce ATP.
An important tumour suppressor gene; a transcription factor.

palliative treatment
pap smear

Treatment for a cancer which cannot be cured. The aim of the treatment is to ease pain and symptoms and prolong life, but
not to cure the cancer.
A sample of cervical epithelium cells is taken and analysed to look for the very early stages of cervical cancer.

passenger mutation
pathology
pedigree

A mutation that confers no selective growth advantage on the cell and thus does not contribute to cancer, even when found
in a cancer cell
The science of analysing diseased tissue.
Family tree.

PET scan

Positron emission tomography. Produces detailed 3-D images of the body, and can show how effectively some parts of the
body are functioning.

phase I, II and III trials

phospholipid
phosphorylation (protein)
Photon beam
placebo
Point mutations
polymerase (RNA and DNA)

Clinical trials, carried out in humans, which test the safety and efficacy of a new drug candidate. See section 5.20 for
explanation of the different types.
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
enzymes. Can alter protein function, e.g. may activate the target protein.
A high energy X-ray beam. The dose given is measured in units called Grays (Gy).
A 'dummy' drug, used as a control in clinical trials.
Mutation of a single base pair (nucleotide).
Enzyme which allows DNA to be copied (DNA polymerase) or transcribed to RNA (RNA polymerase).

polysomy
precision medicine
precursors
prevalence
prevalence ratio
primary cancer
progenitor cell
progesterone
prognosis
prognostic
proliferation
promoter (of gene)
prophylactic
proteasome
protein
proteomics
proton
proto-oncogene

The presence of multiple copies of a chromosome instead of the normal 2 copies per cell.
See targeted therapy.
Cells which are more differentiated than stem cells but can differentiate into more mature cells.
The proportion of people affected in a population at any given time.
The number of people with a specific cancer divided by those who were risk of it
The initial tumour or site where the cancer originated.
A cell which can give rise to many other types of cells; a stem cell.
A female sex hormone release from the ovary.
A prediction about the clinical outcome for the patient.
Predictive
Cell multiplication.
The DNA sequence that controls the transcription of a gene, usually found near the start of the gene.
Preventative.
A complex of proteases which selectively destroy proteins in the cell.
A chain of amino acids, which is encoded by mRNA.
The study of all the proteins in a sample.
A sub-atomic particle, part of all atom nuclei.
The normal cellular version of a gene which, when mutated, can become an oncogene.

quality adjusted life year

(QALY)
quality adjusted life years
radiation oncology
radiotherapy dose
radium
randomized control trial
receptor
recessive
recurrent disease
remission

A measure of disease burden, including both the quality and the quantity of life lived. Used in assessing the value for money
of a medical intervention.
A measure of disease burden, based on both the number of years of life expected, and the quality of life of those years.
The use of ionising radiation to treat cancer. Also referred to as radiotherapy.
The total amount of radiation applied to tumour or normal tissues.
A radioactive metal used to generate radiation.
A scientific study to help determine whether a drug has real benefit.
A protein, usually at the cell surface, which binds to specific signals from outside the cell, such as growth factors.
A genetic condition in which two mutated copies are required to be inherited for an individual to display symptoms.
Disease which returns after it has been reduced or has completely disappeared due to treatment.
A cancer is said to be in remission if the symptoms and lump reduce or disappear.

replication (of DNA)

resection
retinoblastoma
ribosomal proteins
RNA microarray
RNA
sarcoma
screening
secondary cancer
senescence
side effect
signalling cascade
signature
single nucleotide
polymorphism
somatic
sporadic
stage
stem cell

The duplication of DNA during mitosis to allow cell division to occur correctly.
Removal of tissue by surgery.
Cancer which develops from the immature cells of the retina.
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
available.
Ribonucleic acid. Transcribed from DNA and translated into proteins.
Malignant connective tissue tumour.
A programme aimed at diagnosing cancer before any signs and symptoms have appeared.
A tumour that has spread from a primary site to a different site or organ.
A resting state, where cells remain viable, but no longer progress through the cell cycle and lose their ability to replicate.
Effect of a drug which is not the main desired effect.
A series of chain reactions used to amplify and transmit a signal within a cell. Also called a signal transduction pathway.
An array of gene expression or mutations, which is characteristic of a particular cancer type or sub-type.
SNP, a single base pair mutation found in the population.
Relating to the cells of the body, as opposed to relating to germ line (reproductive) cells.
Not inherited.
Measure of how invasive a cancer has become.
A progenitor cell which can self-renew, and generates all other cell types in a particular tissue.

stratified medicine

Medicine based on sorting patients into different sub-groups, for which certain treatments are known to work particularly
well or poorly.

stromal cells
subcutaneous injection
surgical resection
survival factor
synthetic lethality
systemic therapy

The cells (such as fibroblasts, endothelial cells and immune cells) and their associated extracellular matrix, that support a
tissue or tumour
Injection through the skin into the tissues below.
The removal of a section of tissue by surgery in order to remove a tumour.
A signal from outwith the cell that promotes cell survival / prevents cell death.
When a combination of mutations in two or more genes leads to cell death, but the individual mutations alone do not.
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

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.

transporters
tumour microenvironment
tumour suppressor gene
tumour

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.

tyrosine kinase
ubiquitination
ulcerating secondary growth
vasculature
wild-type

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.

University of Glasgow