Pancreatic cancer early detection: Expanding higher-risk group with clinical and metabolomics parameters

Table 1 Pancreatic ductal adenocarcinoma related genetic syndromes

Syndrome	Inheritance	Gene mutation	Risk of PDAC
Peutz-Jeghers syndrome[38]	AD	STK11/LKB1	SIR = 132
Hereditary pancreatitis[39-41]	AD	PRSS1	OR = 69.9
		SPINK1
Familial atypical multiple mole melanoma syndrome[42-44]	AD	CDKN2A	SIR = 13-38
Hereditary breast-ovarian cancer syndrome[45-51]	AD	BRCA2	BRCA2: OR = 3.5-10-fold increased risk
		BRCA1	BRCA1: OR = 2.26 times average population
Lynch syndrome[52]	AD	MLH1, MSH2, MSH6 or PMS2	SIR = up to 8.6
Cystic fibrosis[53]	Autosomal recessive	CFTR	OR = 5.3-6.6

AD: Autosomal dominant; PDAC: Pancreatic ductal adenocarcinoma; SIR: Standardized incidence ratio.

Table 2 Results of screening programs for pancreatic cancer in high-risk groups n (%)

Study	CAPS1	CAPS2	CAPS3	U of Washington	FaPaCa	Dutch Study
Diagnostic yield	2 (5.3)	8 (10)	92 (43)	10 (13)	1 (1.3)	10 (23)

Positive finding of abnormal imaging such as mass (solid, cyst) or abnormal duct in the cases. CAPS: Cancer of the Pancreas Screening Study; FaPaCa: Familial Pancreatic Cancer Study.