Table 1.
Summary of genetic mutations associated with selected cancers.
| Cancer type | Somatic mutations | Structural rearrangements | Insertions/Deletions | Hereditary mutations | References |
|---|---|---|---|---|---|
| Melanoma | HRAS, BRAF, RAS, CTNNB1, GNA11, GNAQ, KIT, MEK1, NRAS, MMAC1, PTEN, GRIN2A, PREX2, RAC1, PPP6C, STK19, SNX31, TACC1, ARID2, CDK4, MITF | CDKN2, HMGI-C, RAF | MMAC1, PTEN, BRAF | MAP2K1, MAP2K2, CDK4 | Brose et al., 2002; Vogelstein and Kinzler, 2004; Garraway et al., 2005; Wei et al., 2011; Hodis et al., 2012; Vogelstein et al., 2013 |
| Lung Cancer | TP53, KRAS, STK11, EGFR, ALK, BRAF, RAS, AKT1, DDR2, HER2, MEK1, NRAS, PIK3CA, PTEN | RET, ROS1, ALK, EML4, NTRK1 | EGFR, FHIT, FRA3B, FGFR1, HER2 | EGFR, BRAF, RAS, KRAS, TP53 | Brose et al., 2002; Kosaka et al., 2004; Vogelstein and Kinzler, 2004; Soda et al., 2007; Lipson et al., 2012; Vogelstein et al., 2013 |
| Liver Cancer | CTNNB1, GNMT, p57, IN1 | GNMT | E1B, GNMT, p57 | ARID1A, ARID1B, ARID2, MLL, MLL3, TP53, CTNNB1, EGFR, GNMT, IN1 | Biegel et al., 1999; Tseng et al., 2003; Vogelstein and Kinzler, 2004; Vogelstein et al., 2013 |
| Breast Cancer | FBXW7, AKT2, PI3KCA, CCND1, ERBB2, NTRK1, SMAD2, MAP2K4, AKT1, ESR1, FGFR1, FGFR2, HER2, PIK3CA, PTEN | BRCA1, BRCA2, TP53, PIK3CA, CHEK2 | BRCA1 | TP53, BRCA1, BRCA2, PTEN, AKT1, TP43, TBX3, RUNX1, CBFB | Vogelstein and Kinzler, 2004; Walsh et al., 2006; Stephens et al., 2009; Vogelstein et al., 2013 |
| Colorectal Cancer | CTNNB1, BAX, FBXW7, PI3KCA, FES, KRAS, NRAS, SMAD2, SMAD4, TGFBR1, TGFBR2, MAP2K4, PTNP1, AKT1, PTEN, BRAF, PIK3CA | ALK | APC-L1 | FAP, AXIN2, MSH2, MLH1, MSH6, PMS2, HNPCC, MUTYH, PIK3CA, IRS2, IRS4, PTEN, RHEB | Miki et al., 1992; Vogelstein and Kinzler, 2004; Wood et al., 2007; Lipson et al., 2012; Vogelstein et al., 2013 |
| Ovarian | FBXW7, AKT2, ERBB2, TGFBR1, TGFBR2, BRAF, KRAS, PIK3CA, PTEN | ARID1A, BRCA1 | MMP-1, BRCA1, BRCA2, MLPA, MAPH | STK11, BRCA1, BRCA2 | Kanamori et al., 1999; Sellner and Taylor, 2004; Vogelstein and Kinzler, 2004; Jones et al., 2008; Vogelstein et al., 2013 |
| Pancreatic | KRAS2, N-RAS, MAP2K4, CDKN2A, TP53, SMAD4, BRCA2 | TP53, SMAD4, INK4A | CDKN2A, TP53 | STK11, CDKN2A | Bardeesy and Depinho, 2002; Montagna et al., 2003; Vogelstein and Kinzler, 2004; Vogelstein et al., 2013 |
| Thyroid | NTRK1, BRAF, KRAS, RET | RET/PTC, ELE1, AKAP9, PTEN, BRAF, TRK | PTEN | RET, NTRK1, BRAF | Fugazzola et al., 1996; Dahia et al., 1997; Cheung et al., 2001; Vogelstein and Kinzler, 2004; Vogelstein et al., 2013 |