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Case study 1 Melanoma A 50-year-old woman presented one year ago with a skin lesion, a biopsy was taken. and histological examination showed malignant melanoma. The patient had surgery to remove the lesion and appeared to be clear of the disease. The patient did not have targeted therapy at this stage. On year after surgery, she developed metastasis in the liver. Tumour biopsy confirmed melanoma and next generation sequencing analysis of the cancer genome was carried out. The results of the genomic analysis are included in the table below. The list of genomic variants produced using next generation sequencing. Chromosome Gene Function Zygosity ID COSV56056643 7934 COSV61684056 18921 COSV52662617 17p13 COSV104574314 16p13 BRAF SMAD4 TP53 AXIN1 Base change c.1799T>A missense Heterozygous missense Heterozygous c.1082G>A missense Heterozygous c.535C>T missense Heterozygous c.948G>A Amino acid change 1. Introduce the topic focusing on the molecular background of melanoma 2 p.V600E p.R361H p.H179Y p.G650S TASK You are required to analyse and interpret the genomic data linked to the case study and critically discuss how the genomic analysis would help in patient diagnosis and therapeutic management.

Case study 1 Melanoma A 50-year-old woman presented one year ago with a skin lesion, a biopsy was taken. and histological examination showed malignant melanoma. The patient had surgery to remove the lesion and appeared to be clear of the disease. The patient did not have targeted therapy at this stage. On year after surgery, she developed metastasis in the liver. Tumour biopsy confirmed melanoma and next generation sequencing analysis of the cancer genome was carried out. The results of the genomic analysis are included in the table below. The list of genomic variants produced using next generation sequencing. Chromosome Gene Function Zygosity ID COSV56056643 7934 COSV61684056 18921 COSV52662617 17p13 COSV104574314 16p13 BRAF SMAD4 TP53 AXIN1 Base change c.1799T>A missense Heterozygous missense Heterozygous c.1082G>A missense Heterozygous c.535C>T missense Heterozygous c.948G>A Amino acid change 1. Introduce the topic focusing on the molecular background of melanoma 2 p.V600E p.R361H p.H179Y p.G650S TASK You are required to analyse and interpret the genomic data linked to the case study and critically discuss how the genomic analysis would help in patient diagnosis and therapeutic management.

Human Anatomy & Physiology (11th Edition)
Human Anatomy & Physiology (11th Edition)
11th Edition
ISBN:9780134580999
Author:Elaine N. Marieb, Katja N. Hoehn
Publisher:Elaine N. Marieb, Katja N. Hoehn
Chapter1: The Human Body: An Orientation
Section: Chapter Questions
Problem 1RQ: The correct sequence of levels forming the structural hierarchy is A. (a) organ, organ system,...
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Case study 1 Melanoma A 50-year-old woman presented one year ago with a skin lesion, a biopsy was taken. and histological examination showed malignant melanoma. The patient had surgery to remove the lesion and appeared to be clear of the disease. The patient did not have targeted therapy at this stage. On year after surgery, she developed metastasis in the liver. Tumour biopsy confirmed melanoma and next generation sequencing analysis of the cancer genome was carried out. The results of the genomic analysis are included in the table below. The list of genomic variants produced using next generation sequencing. Chromosome Gene Function Zygosity ID COSV56056643 7934 COSV61684056 18921 COSV52662617 17p13 COSV104574314 16p13 BRAF SMAD4 TP53 AXIN1 Base change missense Heterozygous c.1799T>A missense Heterozygous c.1082G>A missense Heterozygous c.535C>T missense Heterozygous c.948G>A Amino acid change p.V600E p.R361H p.H179Y p.G650S TASK You are required to analyse and interpret the genomic data linked to the case study and critically discuss how the genomic analysis would help in patient diagnosis and therapeutic management. 1. Introduce the topic focusing on the molecular background of melanoma 2. Analyse the genomic data and identify the mutation(s) in driver genes associated with malignant melanoma 3. Suggest a bioinformatics workflow (pipeline) for secondary genomic data analysis utilizing open-source tools to discover single nucleotide variants (SNVS) and small insertions and deletions (Indels). 4. Critically discuss how genomic analysis would inform therapeutic choices 5. The report should include a conclusion summarising your findings and highlighting future directions in malignant melanoma therapeutic management.
Transcribed Image Text:Case study 1 Melanoma A 50-year-old woman presented one year ago with a skin lesion, a biopsy was taken. and histological examination showed malignant melanoma. The patient had surgery to remove the lesion and appeared to be clear of the disease. The patient did not have targeted therapy at this stage. On year after surgery, she developed metastasis in the liver. Tumour biopsy confirmed melanoma and next generation sequencing analysis of the cancer genome was carried out. The results of the genomic analysis are included in the table below. The list of genomic variants produced using next generation sequencing. Chromosome Gene Function Zygosity ID COSV56056643 7934 COSV61684056 18921 COSV52662617 17p13 COSV104574314 16p13 BRAF SMAD4 TP53 AXIN1 Base change missense Heterozygous c.1799T>A missense Heterozygous c.1082G>A missense Heterozygous c.535C>T missense Heterozygous c.948G>A Amino acid change p.V600E p.R361H p.H179Y p.G650S TASK You are required to analyse and interpret the genomic data linked to the case study and critically discuss how the genomic analysis would help in patient diagnosis and therapeutic management. 1. Introduce the topic focusing on the molecular background of melanoma 2. Analyse the genomic data and identify the mutation(s) in driver genes associated with malignant melanoma 3. Suggest a bioinformatics workflow (pipeline) for secondary genomic data analysis utilizing open-source tools to discover single nucleotide variants (SNVS) and small insertions and deletions (Indels). 4. Critically discuss how genomic analysis would inform therapeutic choices 5. The report should include a conclusion summarising your findings and highlighting future directions in malignant melanoma therapeutic management.
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( Case study 1 Melanoma A 50-year-old woman presented one year ago with a skin lesion, a biopsy was taken. and histological examination showed malignant melanoma. The patient had surgery to remove the lesion and appeared to be clear of the disease. The patient did not have targeted therapy at this stage. On year after surgery, she developed metastasis in the liver. Tumour biopsy confirmed melanoma and next generation sequencing analysis of the cancer genome was carried out. The results of the genomic analysis are included in the table below. The list of genomic variants produced using next generation sequencing. ID Chromosome Gene COSV56056643 7934 COSV61684056 18921 COSV52662617 17p13 COSV104574314 16p13 BRAF SMAD4 TP53 AXIN1 Base change missense Heterozygous c.1799T>A missense Heterozygous c.1082G>A missense Heterozygous c.535C>T missense Heterozygous c.948G>A Function Zygosity Amino acid change p.V600E p.R361H p.H179Y p.G650S TASK You are required to analyse and interpret the genomic data linked to the case study and critically discuss how the genomic analysis would help in patient diagnosis and therapeutic management. 1. Introduce the topic focusing on the molecular background of melanoma 2. Analyse the genomic data and identify the mutation(s) in driver genes associated with malignant melanoma 3. Suggest a bioinformatics workflow (pipeline) for secondary genomic data analysis utilizing open-source tools to discover single nucleotide variants (SNVS) and small insertions and deletions (Indels). 4. Critically discuss how genomic analysis would inform therapeutic choices 5. The report should include a conclusion summarising your findings and highlighting future directions in malignant melanoma therapeutic management.
Transcribed Image Text:( Case study 1 Melanoma A 50-year-old woman presented one year ago with a skin lesion, a biopsy was taken. and histological examination showed malignant melanoma. The patient had surgery to remove the lesion and appeared to be clear of the disease. The patient did not have targeted therapy at this stage. On year after surgery, she developed metastasis in the liver. Tumour biopsy confirmed melanoma and next generation sequencing analysis of the cancer genome was carried out. The results of the genomic analysis are included in the table below. The list of genomic variants produced using next generation sequencing. ID Chromosome Gene COSV56056643 7934 COSV61684056 18921 COSV52662617 17p13 COSV104574314 16p13 BRAF SMAD4 TP53 AXIN1 Base change missense Heterozygous c.1799T>A missense Heterozygous c.1082G>A missense Heterozygous c.535C>T missense Heterozygous c.948G>A Function Zygosity Amino acid change p.V600E p.R361H p.H179Y p.G650S TASK You are required to analyse and interpret the genomic data linked to the case study and critically discuss how the genomic analysis would help in patient diagnosis and therapeutic management. 1. Introduce the topic focusing on the molecular background of melanoma 2. Analyse the genomic data and identify the mutation(s) in driver genes associated with malignant melanoma 3. Suggest a bioinformatics workflow (pipeline) for secondary genomic data analysis utilizing open-source tools to discover single nucleotide variants (SNVS) and small insertions and deletions (Indels). 4. Critically discuss how genomic analysis would inform therapeutic choices 5. The report should include a conclusion summarising your findings and highlighting future directions in malignant melanoma therapeutic management.
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