Diet-gene interactions

8 important questions on Diet-gene interactions

How many variation is there in the genome (between people)

  • The human genome sequence is 99.6% identical in all people
  • 0.4% variation: SNPs (=single nucleotide polymorphisms)
  • 0.4% equals 12 million places

Which two types of mutations are there

Inherited mutations  [germline mutations]

sporadic (spontaneous) mutations

What are inherited mutations?

  • Passed via sperm or egg cells from parent to the child
  • Not every 'cancer-predisposing mutation' leads to cancer
  • 5-10% of all cancers are inherited
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What is happening in the Lynch syndrome?

  • Inherited mutation is a mismatch repair gene
    • MLH1, MSH2, MSH6, PMS2, EPCAM
  • High risk to get different types of cancer
    • (endometrial, ovarian, gastric, bladder, small bowel, pancreatic etc.
  • Risk of colorectal cancer during life is highest


It can already occur in 20 years

Genetic susceptibility to diet

  • Genes
    • high frequency
    • low penetrance
  • interaction
    • genes may possibly influence exposure to diet

How to replicate findings?

  • Small effect estimates
  • variation in (assessment of)
    • diet/lifestyle
    • genotype frequencies
    • other characteristics

How to include dietary factors?

  • Dietary intake varies over time
  • More objective measures needed?
  • 'Exposomics'?

How to increase the sample sizes?

Needed to increase power
--> Consortia

The question on the page originate from the summary of the following study material:

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