Biomedical subjects

P Cowled

Publications and source records attributed to P Cowled.

3 recordsLinked to original sources

PubMed1999

Hereditary non-polyposis colorectal cancer syndrome.

Hereditary non-polyposis colorectal cancer (HNPCC) syndrome may account for up to 4% of the total colorectal cancer burden in our community. It is assuming an increasingly important role, both as a clinical management issue and as a model for the application of laboratory and clinical genetic services in cancer detection and prevention. Recent developments in the understanding of the molecular biology of the condition have underpinned recommendations for consideration of genetic testing for DNA mismatch repair gene mutation, recommendations that may have far-reaching implications in terms of the numbers of patients offered genetic testing and for associated costs (both financial and psychological). The aim of this review is to highlight the clinical, pathologic and molecular biologic features of HNPCC that underlie the clinical management of affected index patients and their at-risk family members.

Base Pair Mismatch↗

PubMed1995

The human growth-arrest-specific gene GAS1 maps outside the candidate region of the gene for nevoid basal cell carcinoma syndrome.

The human growth-arrest specific gene GAS1 maps to chromosome bands 9q21.3-->q22, the region known to contain the tumour suppressor gene responsible for nevoid basal cell carcinoma syndrome (NBCCS). Because of its putative action as a tumour suppressor gene, the GAS1 gene was analysed as a candidate for the NBCCS gene. Using two-colour fluorescence in situ hybridization, the GAS1 gene maps outside the interval which, by genetic analysis, has been shown to contain the NBCCS gene.

Animals↗

PubMed1979

Null cell chronic lymphocytic leukaemia.

Lymphocytes lacking receptors for sheep erythrocytes and surface immunoglobulin were present in the blood in large numbers at some stage in four cases of chronic lymphocytic leukaemia (which included a mother and son), and formed a substantial proportion of the circulating lymphocytes in other cases. These null cells possessed receptors for mouse erythrocytes. Other B-cell markers were also found on these cells. Serial studies showed a great variation in the number of null cells during the course of the disease (which may be associated with treatment), suggesting variation in the the maturation of leukaemic cells, and indicating that the surface marker complement may not reflect the constitution of the cell undergoing the original malignant change.

Aged↗