Image transcription text Quizzes – SLE339 – Human G X

Image transcription text Quizzes – SLE339 – Human G X Case Study Final Assessment x | + -> C 2 d21.deakin.edu.au/d21/Ims/quizzing/user/attempt/quiz_start_fr… Show more Image transcription text Quizzes – SLE339 – Human G X Case Study Final Assessment x | + C . d21.deakin.edu.au/d21/Ims/quizzing/user/attempt/quiz_start_fr… Show more Describe the histopathology shown in terms of the patient’s haematoxylin and eosin (H&E) staining as well as the estrogen receptor (ER), the progesterone receptor (PR) and the HER2 protein (HER2) expression including how expression has changed relative to normal breast tissue (5 marks). Based on the histopathology shown above, propose the most likely diagnosis for the patient (2 marks). Given the data shown so far, what treatment(s) would you propose for this patient? (3 marks) Given the data shown so far, what is the likelihood of survival for the patient at 6 years (1 mark).5. Identify the A>C rs397517201 mutant in dbSNP and indicate the location of the mutation in the PIK3CA gene (i.e. which exon or intron), the type of genetic mutation and the amino acid sequence change(s). Indicate whether the rs397517201 mutant is pathogenic (or non-pathogenic). If it is pathogenic, is its pathogenesis relevant to the patient? (5 marks) 6. Describe the molecular mechanisms by which the rs397517201 mutant of PIK3CA promotes tumor cell growth in terms of cellular signalling and cellular responses (6 marks). 7. Interpret and explain the allelic burden data for the rs397517201 PIK3CA mutant shown in the graph above. In your answer propose why the tumor has returned (ie. relapsed) despite the treatment using the specific targeted therapy you have proposed above (6 marks). 8. Given the data shown in the allelic burden graph above and the information regarding the rs397517201 PIK3CA mutant, name one (1) targeted therapy that you would now propose for the treatment of this patient. Explain your answer (5 marks). 9. If the targeted therapy you proposed above was successful, what would you predict would occur in the short-term regarding the allelic burden for the rs397517201 PIK3CA mutant as well as the tumor growth (3 marks)?

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