• Mutation; HGNC; HGNC:1148; BUB1; Unexplicit; IVS4+1G>A; Zygosity=Unspecified; Note=Splice donor mutation (PubMed=15162061).
  
• Mutation; HGNC; HGNC:16627; CHEK2; Simple; p.Thr45Thr (c.135G>A); ClinVar=VCV000186358; Zygosity=Heterozygous (PubMed=18167186).
  
• Mutation; HGNC; HGNC:11773; TGFBR2; Simple; p.Lys52Thr (c.155A>C); Zygosity=Heterozygous (PubMed=9927040).
  
• Mutation; HGNC; HGNC:11773; TGFBR2; Simple; p.Tyr470Asp (c.1408T>G); ClinVar=VCV000217016; Zygosity=Heterozygous (PubMed=9927040).
  
• Mutation; HGNC; HGNC:11998; TP53; Simple; c.74+2T>C; Zygosity=Unspecified; Note=Splice donor mutation (PubMed=16418264).
  

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=15162061; DOI=10.1159/000077512
Grigorova M., Staines J.M., Ozdag H., Caldas C., Edwards P.A.W.
Possible causes of chromosome instability: comparison of chromosomal abnormalities in cancer cell lines with mutations in BRCA1, BRCA2, CHK2 and BUB1.
Cytogenet. Genome Res. 104:333-340(2004)

PubMed=16418264; DOI=10.1073/pnas.0510146103; PMCID=PMC1327731
Liu Y., Bodmer W.F.
Analysis of p53 mutations and their expression in 56 colorectal cancer cell lines.
Proc. Natl. Acad. Sci. U.S.A. 103:976-981(2006)

PubMed=18167186; DOI=10.5555/cmj.0366-6999.120.23.p2119.01
Liu W.-D., Zhong B.-Y., Zhang Y.-D., Choi G.-S.
Mutation analysis of the checkpoint kinase 2 gene in colorectal cancer cell lines.
Chin. Med. J. 120:2119-2123(2007)

PubMed=20606684; DOI=10.1038/sj.bjc.6605780; PMCID=PMC2920028
Bracht K., Nicholls A.M., Liu Y., Bodmer W.F.
5-fluorouracil response in a large panel of colorectal cancer cell lines is associated with mismatch repair deficiency.
Br. J. Cancer 103:340-346(2010)