Case Report
Epidural Brain Metastases in a Patient with Early Onset Pancreatic Cancer: A Case Report and Literature Review
Table 1
Common mutated genes implicated in the pathogenesis and occurrence of pancreatic cancer (adapted from [
9]).
| Name | Chromosome | Normal function | Comment |
| K-ras | 12p | Cell growth and division. | Gain of function mutation. The most common mutation found in PC. Up to 50% of colon cancers harbor the K-ras mutation as well. | TP53 | 17p | Cell cycle control and regulation of cellular apoptosis. | Loss of function mutation. Implicated in the vast majority of cancers. Abnormal function in Li-Fraumeni syndrome. | CDKN2A | 9p | Cell cycle control. | Loss of function mutation. Abnormal function in familial atypical multiple mole melanoma. | SMAD4 | 18q | Regulation of cell cycle and cell division. | Loss of function mutation. This mutation is associated with a greater burden of PC-related metastases. | BRCA2 and PALB2 | 13q and 16p, respectively | Regulation of cell cycle. | Loss of function mutations. Abnormal in breast and ovarian cancer syndromes. | STK11/LKB1 | 19p | Tumor suppressor gene (?) | Loss of function mutation. Abnormal in Peutz-Jeghers syndrome. | MLH1 and MSH2 | 3p and 2p, respectively | DNA repair and regulation of cell cycle. | Loss of function mutation. Abnormal in Lynch syndrome. | ATM | 11q | Regulation of the cell cycle and DNA repair. | Loss of function mutation. Abnormal in Ataxia telangiectasia. | PRSS1 and SPINK1 | 7q and 5q, respectively. | PRSS1 encodes a trypsinogen and SPINK1 encodes a trypsin inhibitor. | Loss of function mutation for SPINK1 and gain in function mutation for PRSS1. Abnormal in hereditary pancreatitis. |
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