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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 publication

DOI

10.1007/s003840050068

Type

Journal article

Journal

Int J Colorectal Dis

Publication Date

1997

Volume

12

Pages

1 - 3

Keywords

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