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 38a 2/0.03 65b 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 8.9c 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.