Whitcomb, "SPINK1 N34S is strongly associated with recurrent acute pancreatitis but is not a risk factor for the first or sentinel acute pancreatitis event," The American Journal of Gastroenterology, vol.
Tusie-Luna, "PRSS1 and SPINK1 mutations in idiopathic chronic and recurrent acute pancreatitis," World Journal of Gastroenterology, vol.
Since its original characterization as a secreted factor in the urine of ovarian cancer patients, expression of SPINK1 in other cancers has been widely studied and found to be present in serum, urine, and tumor tissues.
The expression levels of SPINK1 mRNA in normal and cancerous tissues are presented in Fig.
found that the c.194+2T>C intronic alteration could abolish SPINK1 expression at the mRNA level .
The high frequency of SPINK1 c.194+2T>C mutation inspired us to dig into its clinical implications.
An interesting question is whether increased circulating concentrations of SPINK1 contribute to cancer development.
Although SPINK1 is primarily thought to act as an autocrine growth factor, the addition of SPINK1 to culture medium also increases the invasiveness of tumor cells that do not produce it (3).
Senturk, "Mutation analysis of PRSS1, SPINK1
and CFTR gene in patients with alcoholic and idiopathic chronic pancreatitis: a single center study," The Turkish Journal of Gastroenterology, vol.
We evaluated the presence of 125G/C, 1001>11>CT, 1540A>G (Met470Val), 2694T>G, and 4521G>A variants in CFTR and the 272C>T polymorphism in SPINK1 by direct sequencing.
PRSS1, SPINK1, AND CFTR GENE MUTATIONS IN HTG PATIENTS WITH AND WITHOUT HLP
Mutations N34S and P55S of the SPINK1
gene in patients with chronic pancreatitis or pancreatic cancer and in healthy subjects: a report from Finland.