Genetic Markers of Breast Cancer - Nursing Assignment Help

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Assignment Task:

Genetic Markers of Breast Cancer 

The DNA analysis company 23andme offer a service to analyse anyone's DNA for the presence of genetic variants linked to a number of complex traits or diseases. In this assignment, you are asked to investigate one of the three variants in two genes BRCA1 and BRCA2 used by 23andme to assess the risk of breast cancer. 

The variants are the 185delAG and 5382insC variants in the BRCA1 gene and the 6174delT variant in the BRCA2 gene. 

Select one of the variants and: 
a) Produce an annotated map of the whole gene showing the position of the variant, using NCBI or Ensembl genome databases; 
b) Summarise the evidence that the variant is linked to breast cancer, including a description of the effect of the mutation on the function of the protein; 
c) Write a summary table of the allele frequencies of the variant in the populations listed in the 1000 genomes database; 
d) Compare the data in (c) with the allele frequency data on the 23andme site; 
e) On the basis of your findings, evaluate for which populations the risk analysis is most relevant, and describe the evidence to support your conclusion. 

 
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