CANCER GENOME PROJECT

Cancer genome project uses or performs experiments

of curing edge DNA sequencing method to identify
mutations caused in the human. The aim of cancer
genome project is to discover the genes patterns of
mutation which causes tumours in high frequency as
they provide one of the major aspects in cancer
biology. The pattern of mutation shows a record of life
history of cancer and illustrates the damaging factors
the genome has been exposed to as the normal cell
was transformed to cancerous cells.
Cancer, Ageing and Somatic Mutation: provides
leadership in data aggregation and information
innovation developing high throughput cellular models
of cancer of genome – wide functional screens and
drug testing and exploring basic scientific questions
about the role somatic mutation plays in clonal
evolution, ageing and development.
 Cancer, Ageing and Somatic Mutation includes 3
projects that covers the
 Genomics of human cancers
 Functional analysis of the cancer genome using a
range of in-vitro and in-vivo model systems.
 Characterisation of somatic mutations in
development.
 Adult homeostasis in health and disease.

The Cancer, Ageing and Somatic Mutation programme

will:

 Conduct computational meta-analysis on large,

aggregated cancer genome data sets to identify the
long tail of infrequency mutated cancer genes to
characterise mutational signatures and to inform on
the evolution of cancer cell clones.
 Developing in next generation of cancer cell lines
and use cell lines to systematically explore in-vitro
 sensitivity to large numbers of anti-cancer drugs and
drug combination in order to inform choice of cancer
types for early drug trails.
 Develop and maintain the COSMIC database of
somatic mutation.
 CRISPR – Cas tech to be used for carrying the out
genome-wide screens of gene-gene, gene-drug and
cancer microenvironment interactions in cells and
mice in order to explore fundamental biology and to
identify drug targets and drug resistance
mechanisms.
 Identifying mutational processes underlying
mutational signatures found in cancer characterise
the mutational processes operating in normal cell,
use phylogenetic analysis of somatic mutations in
human to explore cellular lineages during embryonic
developments.
 Exploration of mutation accumulation during ageing
and featuring the consequences for developing of
neo-plastics clonal expansion in non-cancerous cell
population throughout life.
 CANCER GENOME DATABASE:

Discovery of denovo genes and mutations requires

collection of large numbers of cancer genome COSMIC
database (catalogue of somatic mutation in cancer) is
one of the cancer genome databases which acts as a
virtual marketplace for exchange of genomes and
informatics and also increases functionality. COSMIC
comprises of details of millions of mutation across
thousands of cancer types. Hand-curation of key
cancer genes provides deep information on mutation
and its effects, while semi-automated curation
provides broad somatic annotations toward target
discovery and identification of patterns and signatures.
COSMIC makes information available in various ways
which will ease users in scientific and informatics
varieties. The results/information is easily accessible in
custom website, where distribution across genes,
genomes and diseases can be explored conveniently in
detail.
The Cancer Genome Atlas Program

The Cancer Genome Atlas Program, a landmark cancer

genomics program, molecular characterised over
20,000 primary cancers and matched normal samples
spanning 33 cancer types. This program began in 2006
with effort of National Cancer Institute and National
Human Genome Research Institute.
Around 2.5 petabytes of genomic, epigenetic,
transcriptomic and proteomic data is generated by
TCGA over dozen of years. These data remains
publically available for anyone in research community
and provides good information which leads to
improvement in ability to diagnoses, treat and prevent
cancer.

TCGA Outcomes and Impact:

 Deepened understanding of cancer through
molecular characterization.
 Established a rich genomics data resource for the
broad research community.
 Bolstered the computational biology field.
 Helped advance health and science technologies.
 Changed the way cancer patients are treated in the
clinic.

Presented by: Akashi Vyas

Registration No. : 19MSG0034