• Mutation; HGNC; 11773; TGFBR2; Simple; p.Arg528His (c.1583G>A); ClinVar=VCV000012511; Zygosity=Homozygous (PubMed=9927040).
  

PubMed=8385345; DOI=10.1073/pnas.90.7.2846
Smith K.J., Johnson K.A., Bryan T.M., Hill D.E., Markowitz S.D., Willson J.K.V., Paraskeva C., Petersen G.M., Hamilton S.R., Vogelstein B., Kinzler K.W.
The APC gene product in normal and tumor cells.
Proc. Natl. Acad. Sci. U.S.A. 90:2846-2850(1993)

PubMed=7824277
Eshleman J.R., Lang E.Z., Bowerfind G.K., Parsons R., Vogelstein B., Willson J.K.V., Veigl M.L., Sedwick W.D., Markowitz S.D.
Increased mutation rate at the hprt locus accompanies microsatellite instability in colon cancer.
Oncogene 10:33-37(1995)

PubMed=9927040
Grady W.M., Myeroff L.L., Swinler S.E., Rajput A., Thiagalingam S., Lutterbaugh J.D., Neumann A., Brattain M.G., Chang J., Kim S.-J., Kinzler K.W., Vogelstein B., Willson J.K.V., Markowitz S.D.
Mutational inactivation of transforming growth factor beta receptor type II in microsatellite stable colon cancers.
Cancer Res. 59:320-324(1999)

PubMed=11314036; DOI=10.1038/sj.onc.1204211
Forgacs E., Wren J.D., Kamibayashi C., Kondo M., Xu X.L., Markowitz S.D., Tomlinson G.E., Muller C.Y., Gazdar A.F., Garner H.R., Minna J.D.
Searching for microsatellite mutations in coding regions in lung, breast, ovarian and colorectal cancers.
Oncogene 20:1005-1009(2001)