title: A transforming growth factor beta receptor type II gene mutation common in colon and gastric but rare in endometrial cancers with microsatellite instability.
abstract: 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.
authors.affiliation: Department of Medicine, Case Western Reserve University, Cleveland, Ohio 44106, USA.
authors.forename: L L
authors.initials: LL
authors.lastname: Myeroff
authors.forename: R
authors.initials: R
authors.lastname: Parsons
authors.forename: S J
authors.initials: SJ
authors.lastname: Kim
authors.forename: L
authors.initials: L
authors.lastname: Hedrick
authors.forename: K R
authors.initials: KR
authors.lastname: Cho
authors.forename: K
authors.initials: K
authors.lastname: Orth
authors.forename: M
authors.initials: M
authors.lastname: Mathis
authors.forename: K W
authors.initials: KW
authors.lastname: Kinzler
authors.forename: J
authors.initials: J
authors.lastname: Lutterbaugh
authors.forename: K
authors.initials: K
authors.lastname: Park
mesh_terms: D001483:Base Sequence; D004273:DNA, Neoplasm; D016889:Endometrial Neoplasms / Q000737:chemistry / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction / Q000379:methods; D017346:Protein Serine-Threonine Kinases; D000077294:Receptor, Transforming Growth Factor-beta Type II; D018125:Receptors, Transforming Growth Factor beta / Q000235:genetics*; D012680:Sensitivity and Specificity; D013274:Stomach Neoplasms / Q000737:chemistry / Q000235:genetics*; D014407:Tumor Cells, Cultured
chemical_list: D004273:DNA, Neoplasm; D018125:Receptors, Transforming Growth Factor beta; D017346:Protein Serine-Threonine Kinases; D000077294:Receptor, Transforming Growth Factor-beta Type II