The study of cancer genomes has revealed abnormalities in genes that drive the development and growth of many types of cancer. This knowledge has improved our understanding of the biology of cancer and led to new methods of diagnosing and treating the disease.

1. Genomics and Cancer
How Genomics is Changing Cancer Care
Presented by:-
VISHAL PANDEY
17412GPB017
M.Sc. GPB, Sem- 1

2. Cancer is an (epi)genetic disease
• Method for turning genes ‘off ’ or
‘on’
• Any heritable phenotypic change that
does not derive from a modification
of the genome.
• Reversible changes to chromosomes.
• Environment may alter epigenomics
in cells.

3. • Proto-oncogenes - stimulate proliferation, inhibit
differentiation and apoptosis
• Tumor suppressors - inhibit proliferation, stimulate
differentiation and apoptosis

5. Cancer is a genetic disease:
accumulation of mutations and epigenomic
changes in somatic cells

7. Genomic and epigenomic
aberrations in cancer

8. High-throughput technologies to identify cancer
alterations

9. Expression microarrays

10. Sequencing

11. Large deletions
& Insertions
SKY Chromosome Painting
• Normal SKY Chromosomes
are not multicolored.
• Chromosome in breast
cancer appear multicolored
because they have
exchanged genetic material.

12. Comparative
Genomics
Hybridization
(CGH)

13. Methylation Profiling
• Aberrant DNA Methylation
has been implicated in many
disease processes including
cancer.
• Study of epigenetic
alterations in cancer can
provide insight into
important tumorigenic
pathways.
• Altered methylation often
activates silences genes, and
can affect gene expression
and rate of cancer
progression

14. We can use the genomic changes unique to the
cancer for:
• Prognosis
• Therapy
• Screening

15. Genomic analysis of the tumour
cells

16. For ER +, Node - tumours

17. Screening for cancer using cancer
biomarkers

18. Genetic biomarkers as a screen
Methylated Septin 9 test
– Blood test
– Looks at a gene that is
methylated in colon
cancer
– Sensitivity and specificity
maybe 60 - 85%

19. Targeted Therapy

20. What will the future hold?
• Cheaper, simpler, faster testing
• Incorporation of genomic markers into
risk algorithms
• Targeted ‘personalized’ treatment based
on genomic information

21. Summary
• All cancer is ‘genetic’ but only a small number of
cases are ‘hereditary’.
• Genomic and epigenomic changes within the cancer
(somatic mutations) can be used in screening and
treatment.
• A person’s genomic (germ line variations) make up
may influence treatment.

22. Conclusion
• Cancer can be driven by various types of genetic
mutations
• Advancement in genomics can improve our
understanding of cancer biology leading to better
patient management and therapeutic strategy

23. Thank you