From Genetic Testing to the Operating Room”

Lairmore, Terry
May 2007
World Journal of Surgery;May2007, Vol. 31 Issue 5, p1002
Academic Journal
The article describes a large kindred with a specific, infrequent mutation in the intracellular portion of the rearranged during transfection protooncogene that appears to confer a minimal risk of invasive medullary carcinoma, or a very late age-at-onset in gene mutation carriers. The multiple endocrine neoplasia type 2 syndromes and familial medullary thyroid carcinoma are described genetically as being transmitted with near complete penetrance, but variable expressivity.


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