BB3704 - The Biology and Treatment of Cancer

Assignment Task

Description

This assessment will develop your ability to do problem solving and data analysis, and you will present your work in the form of a written report (maximum length words excluding references, tables and figure legends).

Clinical Case Study

Part 1

A research study based in a cancer clinic is using targeted next generation sequencing to investigate the genetics of breast cancer patients who they suspect have a hereditary cancer syndrome. Research nurses take a blood sample from two patients with cancers that have similar characteristics, extract DNA and send this to a diagnostics laboratory which sequences a panel of known cancer genes.

The study identifies a heterozygous mutation in the blood sample from each patient. Database entries indicate that these mutations are pathogenic You will be given the sequence data from the patients and some pedigrees detailing the family history of cancer in the introductory lecture to this assessment in Week 22. You should use this data to answer the questions as directed below. 

1. Use the sequences and mutation identifiers to identify the mutated gene(s) in patient A and patient B, describe the nature of the mutations and diagnose the cancer syndrome that these patients have inherited.

2. Describe the specific pathway disrupted by these patient mutations and how its disruption affects pathways important in cancer.

3. Given that these patients already have breast cancer, describe some treatment options they have.

Part 2

A research group is interested in the gene mutated in patient A (Gene A), and wish to investigate if the expression of gene A is altered in breast cancer patients who do not carry a Gene A genetic mutation.

They extract RNA from tumour biopsies and use quantitative PCR to measure the level of Gene A mRNA in a group of non-mutated cancer patients. Biopsies are also taken from 8 normal controls who have no cancer diagnosis and Gene A measured in the same way. Academic Year 22-23 You will be given the QPCR data from the patients and normal controls in the introductory lecture to this assessment in Week 22. You should use this data to answer the questions as directed below.

4. Analyse and present this data in a graph with statistics. Use this information and appropriate literature searches to propose a mechanism by which the expression of gene A is reduced in these tumours. 

5. There are some outliers in this data (C3, C6, C7 and N2). Speculate on why their Gene A levels might differ. There are many possible answers for this question.

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