Screening and early detection of pancreatic cancer in high risk population

Table 1 High risk population and the estimated risk for pancreatic cancer

Syndrome	Gene	RR	Lifetime risk
Peutz-Jeghers syndrome	STK11/LKB1	132	36% by age 65 yr
Hereditary pancreatitis	PRSS1	53	Male: 11% and 49% by age 50 and 75 yr
			Female: 8% and 55% by age 50 and 75 yr
FAMMM	p16	13-22	16% lifetime risk
Familial breast and ovarian	BRCA1/2	3-10	5% lifetime risk
HNPCC	MLH1, MSH6, MSH2, PMS2	1.5-9	8.6% lifetime risk
Familial pancreatic cancer
2 FDR	Unknown	6.4	8%-12% lifetime risk
3 FDR	Unknown	32	40% lifetime risk

FDR: First degree relative; HNPCC: Hereditary non-polyposis colorectal cancer; PRSS1: Cationic trypsinogen gene; FAMMM: Familial atypical multiple mole melanoma syndrome.

Table 2 Reported pancreatic cancer screening programs and diagnostic yield

Study	Screening modalities	Case (n)	Study population	Diagnostic yield upon imaging
Rulyak et al[46], 2001	EUS	35	FPC	34.3%
Canto et al[56], 2004	EUS	38	FPC, PJS	76%
Canto et al[55], 2006	EUS	78	FPC, PJS	22%
Poley et al[47], 2009	EUS	44	FPC, FAMMM, PJS	23%
Langer et al[48], 2009	EUS + MRCP	76	FPC, PCMS	36%
Verna et al[49], 2010	EUS and/or MRCP	51	FPC, FAMMM, HNPCC	EUS: 65% MRI: 33%
Ludwig et al[50], 2011	MRCP	109	FPC	8.3%
Vasen et al[51], 2011	MRCP	79	FAMMM	20%
Canto et al[52], 2012	MRCP, EUS, CT	216	FPC, HBOC, PJS	42.6%
Al-Sukhni et al[53], 2012	MRCP	262	FPC, FAMMM, PJS, hereditary pancreatitis	32%

EUS: Endoscopic ultrasonography; MRI: Magnetic resonance imaging; CT: Computed tomography; FAMMM: Familial atypical multiple mole melanoma syndrome; FPC: Familial pancreatic cancer; HBOC: Hereditary breast-ovarian cancer; HNPCC: Hereditary nonpolyposis associated colorectal cancer; IPMN: Intraductal papillary mucinous neoplasia; MRCP: Magnetic resonance cholangiopancreatography; PCMS: Pancreatic carcinoma-melanoma syndrome; PJS: Peutz-Jeghers syndrome.