Answer questions 1-4, in order, using approximately 200 words for each one. Literature used should be cited and referenced and the use of diagrams is encouraged. Figures and references need not be included in the word count.
1. Use the sequences and mutation identifiers to identify the mutated gene(s), 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, its function and the type of genetic instability found when it is disrupted.
3. Explain how mutations in this pathway contribute to cancer.
4. Describe the therapies available for these patients including recent advances.
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