Cancer Genomics essay

Question 1

cancer =

Answer 1

a class of disease in which unstable cells which have a high mutation rate undergo unregulated cell division

Question 2

cancer genomics =

Answer 2

the study of multiple types of genetic alteration in order to identify the genes responsible for tumour initiation and growth

Question 3

intro…

Answer 3

genomic approach at treating is still being developed

there is potential to identify mutated sequences of DNA and detect the genes responsible for cancer

integrating genomics with a patients medical history can lead to personally tailored diagnosis and treatment

Question 4

uses of cancer genomics =

Answer 4

improve methods of predicting cancer risk, diagnosis, prognosis and response to treatment

genomic features can be studied in tumour biopsies using companion diagnostics to predict which treatment options will best benefit the patient

Question 5

genomic assays -

Answer 5

are done to determine which genes are contributing to cancer

Question 6

database mutation catalogues -

Answer 6

have been expanding due to next generation sequencing and investments in cancer genome projects such as the Cancer Genome Atlas

Question 7

levels of next generation sequencing -

Answer 7

whole genome sequencing = expensive

whole exome sequencing = checks sequence of all protein coding genes

targeted sequencing = only checks sequence at a predetermined loci = cheapest

Question 8

the knowledge of the human genome makes it possible to…

Answer 8

determine gene functions and interactions during diseases such as cancer

changed how cancer research is done

Question 9

examples of how genomics are used …

Answer 9

BRAF and EGFR

Question 10

VEMURAFENIB -

Answer 10

is a BRAF inhibitor that has been developed to treat some forms of melanoma that have a mutation in the BRAF gene due to the substitution at position 600 from valine to glutamic acid

Question 11

EGFR =

Answer 11

mutation makes cell divide rapidly and can be present in some lung cancers = can use DNA sequencing to determine if patient will benefit from EGFR inhibitors

Question 12

personalised medicine =

Answer 12

a form of medicine that uses info about the patient’s genes in order to prevent, diagnose and treat the disease

Question 13

examples of personalised medicine - IMATINIB

Answer 13

IMATINIB drug - used to treat certain types of leukaemia in order to inhibit overactivity of the protein that is caused by a specific chromosomal rearrangement

Question 14

examples of personalised medicine - TRASTUZUMAB

Answer 14

TRASTUZUMAB drug - used to treat breast cancer only in women which are HER-2 positive ( controls hyperactive signalling pathways)

mutations in the HER-2 gene have also been found in bladder, pancreatic and ovarian cancer = similar drugs could be used

Question 15

challenges -

Answer 15

incomplete catalogue of genomic alterations in cancer

only basic understanding of biological consequences of genomic alterations

versatile disease = particular gene causing cancer can be modified by environment, cell type, genotype

high quality tissue sample needed

genetic assays may not benefit every cancer patient

Question 16

conclusion…

Answer 16

the effects of cancer genomics is important in treating cancer

can identify genes with mutations that cause specific types of cancer

potential elimination of disease

idea of personalised medicine is still limited as a balanced assessment of possible risk and benefit to patients is needed = further study is needed