Article
Colorectal adenomatous polyposis syndromes: Genetic determinism, clinical presentation and recommendations for care.
Bulletin du cancer - 1 Feb 2016
Buecher Bruno
Abstract excerpt
Colorectal adenomatous polyposis constitutes a diverse group of disorders with different modes of inheritance. Molecular diagnosis of this condition has become more complex. In fact, somatic mosaicism for APC mutations now appears to be more frequent than previously thought and rare germline alterations of this gene may be implicated in patients tested negative for "classical" APC mutations (point mutations and...
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