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

Journal article

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.

Authors: Tomlinson, I; Beck, N; Williamson, J; Harocopos, C; Mitchell, V

• Journal: International journal of colorectal disease
• Volume: 12
• Issue: 1
• Pages: 1-3
• Publication date: 1997-01-01
• DOI: 10.1007/s003840050068
• EISSN: 1432-1262
• ISSN: 0179-1958
• Language: English
• Keywords: Adult; Male; Neoplasms, Multiple Primary; Tissue Plasminogen Activator; Aged; Colorectal Neoplasms; Thrombophlebitis; Middle Aged; Genetic Linkage; Humans; Adolescent; Pedigree; Adenoma