Clinical features and molecular analysis of a family with multiple colon tumours and reduced plasminogen activator activity
| Autor: | Walter F. Bodmer, I. P. M. Tomlinson, Jill Williamson, C. J. Harocopos, Shirley Hodgson, V. E. Mitchell, N. E. Beck |
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| Rok vydání: | 1997 |
| Předmět: |
Adenoma
Adult Male Proband congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Pathology Adolescent Genetic Linkage Locus (genetics) Tissue plasminogen activator Neoplasms Multiple Primary Lesion Internal medicine medicine Carcinoma Humans Gene Aged business.industry Gastroenterology Middle Aged Thrombophlebitis Hepatology medicine.disease Phenotype digestive system diseases Pedigree Tissue Plasminogen Activator Cancer research medicine.symptom Colorectal Neoplasms business medicine.drug |
| Zdroj: | International Journal of Colorectal Disease. 12:1-3 |
| ISSN: | 1432-1262 0179-1958 |
| DOI: | 10.1007/s003840050068 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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