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abstract
Defining the polyposis/colorectal cancer phenotype associated with the Ashkenazi GREM1 duplication: counselling and management recommendations
Summary
Hereditary
mixed polyposis is a genetically heterogeneous, autosomal dominant
condition with adenomatous, hyperplastic and juvenile polyps. We
conducted a comprehensive clinical evaluation of a large Ashkenazi
Jewish family with this phenotype and performed extensive genetic
testing. As seen in one previous report, a 40 kb duplication upstream of
GREM1 segregated with the polyposis/colon cancer phenotype in this kindred. Our study confirms the association of GREM1
with mixed polyposis and further defines the phenotype seen with this
mutation. This gene should be included in the test panel for all Jewish
patients with mixed polyposis and may be considered in any Ashkenazi
patient with unexplained hereditary colon cancer when mutations in other
hereditary colon cancer genes have been ruled out.
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