Table 1.
List of the genes that are frequently targeted by focal deletions in human cancers.
| Gene symbol | Gene name | TSG | CFS | Comments and references |
|---|---|---|---|---|
| CDKN2A | Cyclin‐dependent kinase inhibitor 2A | YES | NO | CDKN2A encodes the cell cycle inhibitors p16INK4A and ARF (Quelle et al., 1995). |
| CDKN2B | Cyclin‐dependent kinase inhibitor 2B | YES | NO | CDKN2B encodes the cell cycle inhibitor p15INK4B (Krimpenfort et al., 2007). |
| FHIT | Fragile histidine triad | DEBATED | FRA3B | FHIT encodes a diadenosine triphosphate hydrolase, whose putative tumor suppressor activity is still being debated (Le Beau et al., 1998; Saldivar et al., 2010). It is the largest gene on chromosome 3. |
| WWOX | WW domain containing oxidoreductase | DEBATED | FRA16D | WWOX is expressed at high levels in the distal convoluted tubules of nephrons and its targeted deletion in mice leads to kidney failure and death within the first few weeks of life (Aqeilan et al., 2007; Ludes‐Meyers et al., 2009; Watanabe et al., 2003). |
| PTPRD | Protein tyrosine phosphatase receptor type delta | NO | NO | PTPRD is normally expressed in the brain and in B and T lymphocytes and appears to play a role in learning and memory (Uetani et al., 2000). |
| MACROD2 | MACRO domain containing 2 | NO | NO | The function of MACROD2 is unclear, but the presence of the MACRO domain suggests that its protein product binds poly‐ ADP‐ribose (Bradley et al., 2010). |
| PARK2 | Parkinson protein 2 | NO | FRA6E | Mutations in PARK2 are associated with autosomal recessive juvenile Parkinson's disease (Kitada et al., 1998). |
| LRP1B | Low density lipoprotein‐related protein 1B | NO | FRA2F | LRP1B, a member of the low density lipoprotein receptor family, is expressed preferentially in the brain; its inactivation in mice does not lead to any obvious phenotype (Marschang et al., 2004). |
| RB1 | Retinoblastoma 1 | YES | NO | RB1 is a tumor suppressor that regulates the G1‐S transition (Planas‐Silva and Weinberg, 1997). |
| FAT1 | FAT tumor suppressor homolog 1 | YES | NO | FAT1 encodes a cadherin that coordinates cell–cell adhesion to cellular growth; it was initially discovered as a tumor suppressor gene in Drosophila (Hou et al., 2006; Mahoney et al., 1991). |
| PDE4D | Phosphodiesterase 4D | NO | NO | PDE4D regulates cAMP levels and contraction in the airway smooth muscle cells and in the heart muscle (Hansen et al., 2000; Lehnart et al., 2005). |
| IMMP2L | Inner mitochondrial membrane peptidase 2 like | NO | FRA7K | The major phenotype of IMMP2L‐deficient mice is infertility (Lu et al., 2008). |
| FAM190A | Family with sequence similarity 190, member A | NO | FRA4F | FAM190A is expressed in the cerebellum and may be linked to attention deficit disorder (Lantieri et al., 2010). |
| GRID2 | Glutamate receptor, ionotropic, delta 2 | NO | FRA4F | GRID2 is associated with cerebellar ataxia (Lalouette et al., 1998). |
| A2BP1 | Ataxin 2 binding protein 1 | NO | NO | A2BP1 regulates alternative splicing of neuronal transcripts (Lee et al., 2009). |
| UNKNOWN chr9(12 Mb) | – | NO | NO | No TSG or large genes at this locus. |
| CNTNAP2 | Contactin‐associated protein‐like 2 | NO | FRA7I | CNTNAP2 may play a role in speech development (Smith et al., 2006; Newbury and Monaco, 2010). |
| LSAMP | Limbic system‐associated membrane protein | NO | NO | LSAMP regulates the behavioral response to stress (Catania et al., 2008). |
TSG, tumor suppressor gene; CFS, common fragile site.