Table 1.
Gene Symbol | Gene Name | Genetic Alteration | Mechanism of Genetic Alteration | Chromosome Site | Known or Predicted Function | Alteration in Primary Pancreatic Cancer, % | Source, y |
---|---|---|---|---|---|---|---|
CDKN2A/p16 | Cyclin-dependent kinase inhibitor 2A | Inactivation | Homozygous deletion (41%), intragenic mutation (38%) | 9p21 | Cyclin-dependent kinase inhibitor | 95 | Caldas et al,17 1994 |
KRAS2 | v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog | Activation | Point mutation | 12p12.1 | Signal transduction, proliferation, cell survival, and motility | >90 | Hruban et al,8 1993 |
TP53 | Tumor protein p53 | Inactivation | Intragenic mutation in 1 allele and loss in the other allele | 17p13.1 | Cell cycle arrest, apoptosis, senescence, DNA repair, metabolism change | 50–70 | Redston et al,19 1994 Moore et al,24 2001 Scarpa et al,25 1993 |
SMAD4/DPC4 | Mothers against decapentaplegic, drosophila, homolog of, 4 | Inactivation | Homozygous deletion (50%), intragenic mutation in 1 allele and loss in the other allele (50%) | 18q21.1 | Signal transmission | 55 | Iacobuzio-Donahue et al,27 2004 Hahn et al,28 1996 |
AKT2 | v-akt murine thymoma viral oncogene homolog 2 | Activation | Amplification | 19q13.1-q13.2 | AKT pathway, hormone metabolism | 10–20 | Ruggeri et al,13 1998 Cheng et al,14 1996 |
MLH1 | mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) | Inactivation | Heterozygous mutations | 3p21.3 | DNA mismatch repair | 3–15 | Goggins et al,59 1998 Wilentz et al,61 2000 |
BRCA2 | Breast cancer 2, early onset | Inactivation | Homozygous deletion | 13q12.3 | DNA repair, proliferation, differentiation | 7 | Goggins et al,155 1996 |
STK11/LKB1 | Serine/threonine kinase 11 | Inactivation | Homozygous deletion, intragenic mutation in 1 allele and loss in the other allele | 19p13.3 | Apoptosis regulation | 5 | Su et al,36 1999 |
BRAF | v-raf murine sarcoma viral oncogene homolog B1 | Activation | Point mutation | 7q34 | Signal transduction, cell growth | 5 | Calhoun et al,12 2003 |
TGFBR2 | Transforming growth factor, β receptor II (70/80 kDa) | Inactivation | Homozygous deletion, homozygous frameshift mutation | 3p22 | Signal transduction | 4 | Goggins et al,38 1998 |
MAP2K4 | Mitogen-activated protein kinase kinase 4 | Inactivation | Homozygous deletions, missense mutation | 17p11.2 | MAPK pathway | 2 | Su et al,39 1998 Teng et al,40 1997 |
Abbreviation: MAPK, mitogen-activated protein kinase.