Table 2: Known inherited syndromes associated with increased risk of HPC.

SyndromeGenesGene functionRate of PC in syndromeO/E risk of PCCumulative risk of PCReferences

HPPRSS1;
SPINK1
Trypsinogen; Protease Inhibitor8/246 = 3.2%
10/200 = 5.0%
26/418 = 6.2%
8/0.15 53
10/0.115 87
26/NR 67
25–70%[1820]
FAMMMCDKN2/P16Tumor suppressor9/200 = 4.5%
66/466 = 14%
15/656 = 2.3%
6/0.16 38a
2/0.03 65b
8/0.6 13
13–17%[2123]
HBOCBRCA1;
BRCA2;
(PALB2)
Tumor suppressor14/1181 = 1.2%14/4.4 5.9
7/1.3 8.9c
1.2–6.9%[2426]
PJSTK11/LKB1Tumor suppressor6/240 = 2.5%
4/31 = 13%
NR/NR 1325–36%[2729]
HNPCCMLH1;
MSH2;
MSH6;
PMS2
DNA mismatch repair47 cases in 31 familiesO/E 8.63.7%[30]
CFCFTRTransmembrane conductance regulator1/28, 842 = 0.0035%d1/0.4 2.6
7/1.7 5.3
“Negligible”[31, 32]
FPCUnk.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.