• Mutation; HGNC; HGNC:173; ACVR2A; Simple; p.Asp96fs*54 (c.278delA); Zygosity=Heterozygous (PubMed=12615714).
  
• Mutation; HGNC; HGNC:173; ACVR2A; Simple; p.Lys437Argfs*5 (c.1310delA); dbSNP=rs764719749; Zygosity=Heterozygous (PubMed=12615714).
  
• Mutation; HGNC; HGNC:11773; TGFBR2; Simple; p.Lys128Serfs*35 (c.383delA); ClinVar=VCV000477546; Zygosity=Homozygous (PubMed=12615714).
  

PubMed=8385345; DOI=10.1073/pnas.90.7.2846; PMCID=PMC46193
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=7704014; DOI=10.1038/ng0195-10
da Costa L.T., Liu B., El-Deiry W.S., Hamilton S.R., Kinzler K.W., Vogelstein B., Markowitz S.D., Willson J.K.V., de la Chapelle A., Downey K.M., So A.G.
Polymerase delta variants in RER colorectal tumours.
Nat. Genet. 9:10-11(1995)

PubMed=7761852; DOI=10.1126/science.7761852
Markowitz S.D., Wang J., Myeroff L.L., Parsons R., Sun L.-Z., Lutterbaugh J.D., Fan R.S., Zborowska E., Kinzler K.W., Vogelstein B., Brattain M.G., Willson J.K.V.
Inactivation of the type II TGF-beta receptor in colon cancer cells with microsatellite instability.
Science 268:1336-1338(1995)

PubMed=8755562; DOI=10.1073/pnas.93.15.7832; PMCID=PMC38834
Liu D.-C., Pearlman E., Diaconu E., Guo K., Mori H., Haqqi T., Markowitz S.D., Willson J.K.V., Sy M.-S.
Expression of hyaluronidase by tumor cells induces angiogenesis in vivo.
Proc. Natl. Acad. Sci. U.S.A. 93:7832-7837(1996)

PubMed=9515795
Sparks A.B., Morin P.J., Vogelstein B., Kinzler K.W.
Mutational analysis of the APC/beta-catenin/Tcf pathway in colorectal cancer.
Cancer Res. 58:1130-1134(1998)

PubMed=12615714
Hempen P.M., Zhang L., Bansal R.K., Iacobuzio-Donahue C.A., Murphy K.M., Maitra A., Vogelstein B., Whitehead R.H., Markowitz S.D., Willson J.K.V., Yeo C.J., Hruban R.H., Kern S.E.
Evidence of selection for clones having genetic inactivation of the activin A type II receptor (ACVR2) gene in gastrointestinal cancers.
Cancer Res. 63:994-999(2003)