Review
Copyright ©The Author(s) 2015.
World J Gastroenterol. Feb 14, 2015; 21(6): 1707-1717
Published online Feb 14, 2015. doi: 10.3748/wjg.v21.i6.1707
Table 1 Pancreatic ductal adenocarcinoma related genetic syndromes
SyndromeInheritanceGene mutationRisk of PDAC
Peutz-Jeghers syndrome[38]ADSTK11/LKB1SIR = 132
Hereditary pancreatitis[39-41]ADPRSS1OR = 69.9
SPINK1
Familial atypical multiple mole melanoma syndrome[42-44]ADCDKN2ASIR = 13-38
Hereditary breast-ovarian cancer syndrome[45-51]ADBRCA2BRCA2: OR = 3.5-10-fold increased risk
BRCA1BRCA1: OR = 2.26 times average population
Lynch syndrome[52]ADMLH1, MSH2, MSH6 or PMS2SIR = up to 8.6
Cystic fibrosis[53]Autosomal recessiveCFTROR = 5.3-6.6
Table 2 Results of screening programs for pancreatic cancer in high-risk groups n (%)
StudyCAPS1CAPS2CAPS3U of WashingtonFaPaCaDutch Study
Diagnostic yield2 (5.3)8 (10)92 (43)10 (13)1 (1.3)10 (23)