Genetic testing in chronic pancreatitis.
Genetic changes associated with some forms of chronic pancreatitis have been recently defined. There are three genes that play a role, each with a variety of genotypes and different pathologic mechanisms and clinical correlations. Selection of the appropriate diagnostic tests requires integration of the clinical and family history and the interpretation of results has a significant impact on genetic counseling for the patient and family. The relative significance of some variant alleles is still under investigation as they are common in the population and show low penetrance. Knowledge of the pathophysiology of each abnormal allele could lead the way towards more specific therapeutic options in the future.
Tazelaar
John P
JP
Division of Molecular Diagnostics, University of Pitsburgh Medical Center, PA 15213, USA.
Kant
Jeffrey A
JA
D002908:Chronic Disease; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics / Q000378:metabolism; D005817:Genetic Counseling; D005820:Genetic Testing; D006801:Humans; D025202:Molecular Diagnostic Techniques; D010179:Pancreas / Q000502:physiology; D010195:Pancreatitis / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D015842:Serine Proteinase Inhibitors / Q000235:genetics / Q000378:metabolism; D014357:Trypsin; D014362:Trypsinogen / Q000235:genetics / Q000378:metabolism
C505032:CFTR protein, human; D015842:Serine Proteinase Inhibitors; C064831:PRSS2 protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D014362:Trypsinogen; D014357:Trypsin