Table III.
Percentage of cyclin-dependent kinase inhibitor 2A mutations in families with pancreatic cancer increases when 3 or more cancer events are present
| No. of cancer events (pancreatic cancer with/without melanoma) in individual or family |
Description | Study | Study location | Families positive for CDKN2A mutation |
|---|---|---|---|---|
| 1 | Pa ca in individual | Ghiorzo et al,13 2004 | Italy (Liguria) | 1/47* (2%) |
| Ghiorzo et al,22 2007 | Italy (Liguria) | 1/63* (2%) | ||
| Pa ca in individual aged ≤ 50 y | Lal et al,15 2000 | Canada (Toronto) | 0/10 (0%) | |
| Pa ca and nonmelanoma cancer in individual | Gerdes et al,89 2000 | Germany (Marburg) | 1†/14 (7%) | |
| 2 | Pa ca and melanoma in individual | Lal et al,16 2000 | Canada (Toronto) | 2/14 (14%) |
| Lal et al,15 2000 | Canada (Toronto) | 0/1 (0%) | ||
| Austin et al,90 2003 | United States (various) | 0/2 (0%) | ||
| Ghiorzo et al,13 2004 | Italy (Liguria) | 0/2 (0%) | ||
| Soufir et al,25 2004 | France | 1/1 (100%) | ||
| Ghiorzo et al,22 2007 | Italy (Liguria) | 1/1 (100%) | ||
| 1 Pa ca and 1 melanoma in family | Lal et al,15 2000 | Canada (Toronto) | 0/2 (0%) | |
| Bartsch et al,12 2002 | Germany | 2/4 (50%) | ||
| Prowse et al,91 2003 | United States (Philadelphia) | 0/2 (0%) | ||
| Ghiorzo et al,13 2004 | Italy (Liguria) | 1/1 (100%) | ||
| 2 Pa ca in family | Lal et al,15 2000 | Canada (Toronto) | 0/12 (0%) | |
| Bartsch et al,12 2002 | Germany | 0/13 (0%) | ||
| Ghiorzo et al,22 2007 | Italy (Liguria) | 1/7 (14%) | ||
| ≥ 2 | 1 Pa ca and ≥ 1 melanoma in family | Austin et al,90 2003 | United States (various) | 0/4 (0%) |
| ≥ 2 Pa ca in family | Moskaluk et al,92 1998 | United States (various) | 0/20 (0%) | |
| Austin et al,90 2003 | United States (various) | 0/6 (0%) | ||
| ≥ 3 | 1 Pa ca and ≥ 2 melanoma in family | Lal et al,15 2000 | Canada (Toronto) | 1/1 (100%) |
| Landi et al,66 2004 | Italy | 2/3 (67%) | ||
| 1 Pa ca and ≥ 3 melanoma in family | Bartsch et al,12 2002 | Germany | 0/1 (0%) | |
| Prowse et al,91 2003 | United States (Philadelphia) | 1/1 (100%) | ||
| Goldstein et al,4 2006 | GenoMEL | 31/43 (72%) | ||
| ≥ 1 Pa ca and ≥ 2 melanoma in family | Soufir et al,55 1998 | France (1 in Italy) | 4/9 (44%) | |
| Mantelli et al,63 2002 | Italy (northern, central) | 6/9 (67%) | ||
| Lang et al,67 2005 | United Kingdom (Scotland) | 0/2 (0%) | ||
| 2 Pa ca and 1 melanoma in family | Moskaluk et al,92 1998 | United States (various) | 1/1 (100%) | |
| Ghiorzo et al,22 2007 | Italy (Liguria) | 1/1 (100%) | ||
| ≥ 2 Pa ca and ≥ 3 melanoma | Goldstein et al,4 2006 | GenoMEL | 13/16 (81%) | |
| Member of pa ca registry with FAMMM cutaneous phenotype | Lynch et al,18 2002 | United States (Creighton) | 8/8 (100%) | |
| ≥ 3 Pa ca in family | Lal et al,15 2000 | Canada (Toronto) | 0/4 (0%) | |
| Bartsch et al,12 2002 | Germany | 0/5 (0%) |
CDKN2A, Cyclin-dependent kinase inhibitor 2A; FAMMM, familial atypical multiple mole melanoma; Pa ca, pancreatic cancer.
Bolded studies reflect large consortium-based data sets.
*
Complete family history not provided on all cases.
†
Mutation carrier had cancer of pancreas, thyroid, vocal cord, and basal cell. No family history of cancer was present.