A transforming growth factor beta receptor type II gene mutation common in colon and gastric but rare in endometrial cancers with microsatellite instability

We have recently demonstrated that mutation of the transforming growth factor-beta (TGF-beta) receptor type II (RII) gene is characteristic of colon cancers exhibiting microsatellite instability or replication errors (RER+). Moreover, we have shown that RII mutations in these RER+ colon cancers are...

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Bibliographic Details
Published in:Cancer research (Chicago, Ill.) Ill.), 1995-12, Vol.55 (23), p.5545-5547
Main Authors: Myeroff, L L, Parsons, R, Kim, S J, Hedrick, L, Cho, K R, Orth, K, Mathis, M, Kinzler, K W, Lutterbaugh, J, Park, K
Format: Article
Language:English
Subjects:
Base Sequence
DNA, Neoplasm
Endometrial Neoplasms - chemistry
Endometrial Neoplasms - genetics
Female
Frameshift Mutation
Humans
Molecular Sequence Data
Polymerase Chain Reaction - methods
Protein-Serine-Threonine Kinases
Receptors, Transforming Growth Factor beta - genetics
Sensitivity and Specificity
Stomach Neoplasms - chemistry
Stomach Neoplasms - genetics
Tumor Cells, Cultured
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Summary:We have recently demonstrated that mutation of the transforming growth factor-beta (TGF-beta) receptor type II (RII) gene is characteristic of colon cancers exhibiting microsatellite instability or replication errors (RER+). Moreover, we have shown that RII mutations in these RER+ colon cancers are characteristically frameshift mutations within a 10-bp polyadenine repeat present in the RII-coding region. We now show that RII gene mutations in this polyadenine repeat are also commonly present in RER+ gastric cancers (71%). In contrast, we find these same RII gene mutations are distinctly uncommon in RER+ endometrial cancers (17%, P < 0.02). These results suggest that RII gene mutations confer a growth advantage and are selected for in RER+ cancers of both the upper and lower gastrointestinal tract. The genesis of RER+ endometrial tumors must, however, be by a different route.
ISSN:0008-5472