Screening methods and sequences relating thereto
Disclosed are screening methods and sequences related thereto. Disclosed are methods for detecting mutations in the MYH gene of an individual. Also disclosed are methods of genotyping and methods of predicting for an individual the likelihood of developing certain cancers, such as colorectal cancer.
1. A method for screening a sample for a mutation in an MYH nucleic acid comprising:
obtaining a sample of an individual;
analyzing an MYH nucleic acid in said sample; and
detecting a mutation in said MYH nucleic acid of said sample resulting in the amino acid variant Y165C.
2. The method according to claim 1 , wherein said mutation is at position 494.
3. The method according to claim 2 , wherein the mutation at position 494 is A→G.
4. The method according to claim 1 , wherein said analyzing step comprises amplifying, from said sample, said MYH nucleic acid, or a portion thereof.
5. The method according to claim 4 , further comprising sequencing the amplified MYH nucleic acid, or a portion thereof, of the individual.
6. The method according to claim 1 , wherein if the individual has said mutation, determining whether the individual is homozygous for said mutation.
7. The method according to claim 1 , wherein if the individual has said mutation, determining whether the individual is compound heterozygous for any other mutations.
8. The method according to claim 1 , further comprising identifying said individual as having a history of colorectal adenomas or cancer, having at least one family member diagnosed with colorectal cancer, or having an increased risk for colorectal cancer.
9. The method according to claim 8 , wherein said identifying step is performed before said detecting step.
10. A method of genotyping, comprising:
detecting, in a sample of an individual identified as (a) diagnosed with colorectal cancer, (b) diagnosed with colorectal adenomas, (c) having at least one family member diagnosed with colorectal cancer, or (d) at an increased risk for colorectal cancer, that the individual has a nucleotide variant in an MYH nucleic acid of the individual that results in the amino acid variant Y165C.
11. The method according to claim 10 , wherein said detecting comprises amplifying, from a sample obtained from the individual, said MYH nucleic acid, or a portion thereof.
12. The method according to claim 1 , wherein if the individual has said mutation, determining whether the individual is compound heterozygous for any other mutations.