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Table 7 Disease characteristics in the families identified with missense mutations in the APC gene

From: Germline Missense Changes in the APC Gene and Their Relationship to Disease

Family mutation Age of onset Age of death Sex Family history Disease phenotype Extra-colonic disease
codon 1822 (hom) 26 - Male Yes Polyposis No
  48 48 Male   Polyposis No
codon 1822 36 - Female Yes Polyposis No
  43 - Male   Bowel Cancer No
  40 - Male   Polyposis No
  43 46 Male   Bowel No
codon 2502* 39 53 Female Yes Polyposis Leiomyoma
  49 - Male   Polyposis Upper GI Polyposis
codon 1317 48 - Male Yes Polyposis No
  35 - Male   Polyposis No
codon 2502 45 - Male Yes Polyposis No
  - 77 Male -   Renal Cancer
  - 60 Female -   Multiple Myeloma
  - 66 Female -   Breast Cancer
codon 1129 12 29 Male No Polyposis No
codon 1640 and 2696 38 47 Male Yes Polyposis CHRPE
  - 42 Male -   Melanoma
  - 57 Male   Polyposis  
  - - Male   Unknown Unknown
codon 1822 31 - Female Yes Polyposis No
(hom) 42 - Male   Polyposis No
  26 27 Male   Bowel Cancer No
codon 2502 38 - Female   Rectal Cancer
Multiple adenomas
No
  44 - Male   Bowel Cancer
Multiple adenomas
 
  - 80s Male   Bowel Cancer No
  28 - Female   Multiple adenomas No
  34 - Male   Multiple adenomas  
codon 1129 62 - Male No Polyposis Bowel
Cancer
Upper GI
Polyposis
codon 1413* 35 - Female No Bowel Cancer No
  1. *both these patients harboured premature termination codons in the APC gene (one in exon 4 and the other in exon 15, respectively), hom = homozygote