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Where This Mutation Occurs Dictates Where Cancer Will

Where This Mutation Occurs Dictates Where Cancer Will

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Published by mcwnotes

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Published by: mcwnotes on May 21, 2009
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07/01/2009

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HNPCC
o
Most common hereditary colon cancer 
o
Bathesda guidelines and Amsterdam critera provide diagnostic guidelinesfor HNPCC
 Not predictive in up to 30% of all cases
o
Autosomal dominant
Mismatch repair 
o
Highly conserved process fond in prokaryotes and eukaryotes
o
Both copies of mismatch-repair gene must be mutated to develop cancer 
Can inherit one bad copy then have somatic mutation that affectssecond
Does not predict cancer perfectly
Where this mutation occurs dictates where cancer willreside
Mismatch repair gene repairs mismatches
Error in this leads to accumulations of error 
cancer 
Polymorphism
o
When a DNA sequence variation causes no significant effect on phenotype
o
May influence height and hair color rather than characteristics of medicalimportance
o
When identify a variation
must determine whether or not it isdetrimental
Achieved via comparing variations to the Human MutationDatabase
Marfan Syndrome
o
Autosomal dominant
o
Majority of mutations in FBN1 gene
Mutation found in 90% of people that meet clinical criterion
Synonymous differences
o
Differences in the nucleotide level that do not translate into differences atthe amino acid level
o
Can occur in Marfan’s where genetic testing may show mutation butindividual does not exhibit clinical manifestations consistent w/ disease
 Non-synonymous
o
Affect the sequence of the resultant protein
o
Likely to result in a change in phenotype or to be associated with a disease
Hemolytic Anemia
o
Fetal HB
2alpha2epsilon
o
Adult HB
2apha2beta
Alpha Thalassemia’s occur when people have mutation in the alpha hemoglobingenes

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