Clinical features and molecular analysis of a family with multiple colon tumours and reduced plasminogen activator activity

I P Tomlinson, N E Beck, J Williamson, C J Harocopos, V E Mitchell, S V Hodgson, W F Bodmer

Research output: Contribution to journalArticlepeer-review

Abstract

A family is reported in which a pair of brothers has developed recurrent venous thromboses, which have been shown in one brother (the proband) to result from a reduced level of tissue plasminogen activator (t-PA) activity. Both brothers have also developed multiple synchronous and metachronous colorectal adenomas. Other pedigree members have developed colon cancers, but not multiple colonic tumours. We have shown that HNPCC and FAP/AAPC are unlikely causes of the family's phenotypes. Previous studies have found low levels of t-PA in sporadic colon tumours. In this family, mutations in the t-PA gene, at a linked locus, or at a locus controlling t-PA activity/release may modify the colon tumour phenotype to cause multiple lesions.

Original languageEnglish
Pages (from-to)1-3
Number of pages3
JournalInternational journal of colorectal disease
Volume12
Issue number1
DOIs
Publication statusPublished - 1997

Keywords

  • Adenoma/diagnosis
  • Adolescent
  • Adult
  • Aged
  • Colorectal Neoplasms/diagnosis
  • Genetic Linkage
  • Humans
  • Male
  • Middle Aged
  • Neoplasms, Multiple Primary/diagnosis
  • Pedigree
  • Thrombophlebitis/diagnosis
  • Tissue Plasminogen Activator/analysis

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