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. 2018 Feb 27;47(2):387–388i. doi: 10.1093/ije/dyy006

Table 5.

Molecular characterizations of participants (probands and relatives) at the Colon Cancer Family Registry Cohort, as of June 2017

Molecular test Number of participants tested Number of colorectal cancer tumours tested Test results
Tumour
 DNA MSI 5147 5305

  • 1065 high

  • 665 low

  • 3575 stable
 IHC for MMR proteins 8036 8338

  • 1671 loss

  • 6667 present
 CIMPa 3855 3888

  • 479 positive

  • 3409 negative
 MLH1 methylation 3041 3412

  • 465 methylated

  • 2947 normal
 BRAF V600E mutation 7080 7322

  • 679 positive

  • 6643 negative
 KRAS mutation 4014 4154

  • 1299 positive

  • 2855 negative
Blood
 MMR geneb

  • 2895 probands

  • 4106 relatives

  • 710 mutations

  • 1408 mutations
 MUTYHb

  • 10649 probands

  • 3571 relatives

  • 47 biallelic

  • 195 monoallelic

  • 12 biallelic

  • 197 monoallelic

CIMP, CpG island methylator phenotype.

a

Tumours were classified as CIMP-positive if more than three of five genes gave percentage of methylated reference value ≥ 10.

b

Sequencing (probands) or predictive testing (relatives).