Hereditary Pancreatic and Hepatobiliary Cancers

Table 2

Known inherited syndromes associated with increased risk of HPC.

Syndrome	Genes	Gene function	Rate of PC in syndrome	O/E → risk of PC	Cumulative risk of PC	References
HP	PRSS1; SPINK1	Trypsinogen; Protease Inhibitor	8/246 = 3.2%; 10/200 = 5.0%; 26/418 = 6.2%	8/0.15 → 53; 10/0.115 → 87; 26/NR → 67	25–70%	[18–20]
FAMMM	CDKN2/P16	Tumor suppressor	9/200 = 4.5%; 66/466 = 14%; 15/656 = 2.3%	6/0.16 → 38^a; 2/0.03 → 65^b; 8/0.6 → 13	13–17%	[21–23]
HBOC	BRCA1; BRCA2; (PALB2)	Tumor suppressor	14/1181 = 1.2%	14/4.4 → 5.9; 7/1.3 → 8.9^c	1.2–6.9%	[24–26]
PJ	STK11/LKB1	Tumor suppressor	6/240 = 2.5%; 4/31 = 13%	NR/NR → 132	5–36%	[27–29]
HNPCC	MLH1; MSH2; MSH6; PMS2	DNA mismatch repair	47 cases in 31 families	O/E→ 8.6	3.7%	[30]
CF	CFTR	Transmembrane conductance regulator	1/28, 842 = 0.0035%^d	1/0.4 → 2.6; 7/1.7 → 5.3	“Negligible”	[31, 32]
FPC	Unk.	Unk.	2/1253 = 0.16%; 4/634 = 0.63%; 5/106 = 4.7%	2/0.44 → 4.5; 4/0.62 → 6.4; 5/0.16 → 32	NR	[33]

NR: not reported; HP: hereditary pancreatitis; FAMMM: familial atypical multiple mole melanoma; HBOC: hereditary breast and ovarian cancer; PJ: Peutz-Jeghers; HNPCC: hereditary nonpolyposis colorectal cancer; FPC: familial pancreas cancer; CF: cystic fibrosis.
^aFemales ≥56 years old.
^bFemales <55 years old.
^cIf outside the ovarian cancer cluster region.
^dA total of nine patients have subsequently been identified by Maisonneuve et al. [31, 32].
Families, not individuals.