Table II.
Percentage of cyclin-dependent kinase inhibitor 2A mutations increases with number of primary melanomas
| No. of primaries |
Study | Study location | Family history* |
Cases positive for CDKN2A mutation |
|---|---|---|---|---|
| 2 | MacKie et al,54 1998† | United Kingdom (Scotland) | 1/14 (7%) | |
| Monzon et al,81 1998 | Canada (Toronto) and United States (Maryland) | ✓ | 3/25 (8%) | |
| Hashemi et al,82 2000† | Sweden | ✓ | 3/61 (5%) | |
| Auroy et al,83 2001† | France | 6/85 (7%) | ||
| Blackwood et al,84 2002 | United States (Pennsylvania) | ✓ | 5/72 (7%) | |
| Peris et al,85 2004 | Europe (Germany, Italy, and Austria) | 1/8 (13%) | ||
| Soufir et al,25 2004 | France | 0/14 (0%) | ||
| Puig et al,86 2005 | Spain | ✓ | 8/81 (10%) | |
| Eliason et al,69 2006 | United States (Utah) | ✓✓ | 1/6 (17%) | |
| ≥2 | Harland et al,58 1997 | United Kingdom | 0/3 (0%) | |
| MacKie et al,54 1998† | United Kingdom (Scotland) | 2/17 (12%) | ||
| ✓✓ | 5/5 (100%) | |||
| Soufir et al,55 1998 | France (1 family living in Italy) | ✓✓ | 16/20 (80%) | |
| Holland et al,56 1999 | Australia | ✓✓ | 6/28 (21%) | |
| Liu et al,76 1999 | Canada (Toronto) and United States (Maryland) | ✓ | 5/33 (15%) | |
| Newton-Bishop et al,57 1999 | United Kingdom (England and Wales) | ✓✓ | 6/20 (30%) | |
| Ruiz et al,59 1999 | Spain | 1/8 (13%) | ||
| Hashemi et al,82 2000† | Sweden | 2/65 (3%) | ||
| ✓ | 7/15 (47%) | |||
| Yakobson et al,60 2000 | Israel | 0/2 (0%) | ||
| ✓ | 1/1 (100%) | |||
| Auroy et al,83 2001† | France | 9/100 (9%) | ||
| Alao et al,62 2002 | United Kingdom | 0/4 (0%) | ||
| ✓ | 1/1 (100%) | |||
| Blackwood et al,84 2002 | United States (Pennsylvania) | ✓ | 5/44 (11%) | |
| Mantelli et al,63 2002† | Italy (Liguria) | ✓✓ | 11/23 (48%) | |
| Landi et al,66 2004 | Italy (South, Central, North, Sardinia, 1 family from Russia) | ✓✓ | 2/15 (13%) | |
| Mantelli et al,77 2004† | Italy (Liguria) | 4/14 (21%) | ||
| Nielsen et al,87 2004† | Sweden (South) | nd | 3/15 (20%) | |
| Peris et al,85 2004 | Europe (Germany, Italy, Austria) | 3/14 (21%) | ||
| Rutter et al,88 2004 | United States (Pennsylvania and California) | ✓ | 1/22 (5%) | |
| Begg et al,6 2005 Population based | GEM: United States (California, Michigan, New Jersey, North Carolina), Australia (New South Wales, Tasmania), Canada (British Columbia, Ontario), Italy (Turin) | ✓ |
17/946 (2%) 19/263 (7%) |
|
| Lang et al,67 2005 | United Kingdom (Scotland) | ✓✓ | 3/5 (60%) | |
| Marian et al,68 2005 | Israel | nd | 0/5 (0%) | |
| Nagore et al,27 2005 | Spain | ✓ | 1/3 (33%) | |
| Puig et al,86 2005 | Spain | 6/73 (8%) | ||
| ✓ | 11/31 (36%) | |||
| Casula et al,78 2007 | Italy (South Italy and Sardinia) | ✓ | 5/34 (15%) | |
| Goldstein et al,4 2006 | GenoMEL: North America and Europe | ✓✓ | 97/129 (75%) | |
| Hocevar et al,70 2006 | Slovenia | ✓✓ | 5/6 (83%) | |
| Stratigos et al,30 2006 | Greece (Athens) | 2/2 (100%) | ||
| 3 | MacKie et al,54 1998† | United Kingdom (Scotland) | 0/2 (0%) | |
| Monzon et al,81 1998 | Canada (Toronto) and United States (Maryland) | 1/5 (20%) | ||
| Hashemi et al,82 2000† | Sweden | ✓ | 4/12 (33%) | |
| Auroy et al,83 2001† | France | 0/9 (0%) | ||
| Blackwood et al,84 2002 | United States (Pennsylvania) | ✓ | 1/14 (7%) | |
| Peris et al,85 2004 | Europe (Germany, Italy, Austria) | 0/2 (0%) | ||
| Soufir et al,25 2004 | France | 0/3 (0%) | ||
| Puig et al,86 2005 | Spain | ✓ | 4/14 (29%) | |
| ≥3 | Eliason et al,69 2006 | United States (Utah) | ✓✓ | 3/3 (100%) |
| Niendorf et al,72 2006 | United States (Massachusetts) | 0/6 (0%) | ||
| ≥4 | MacKie et al,54 1998† | United Kingdom (Scotland) | 1/1 (100%) | |
| Monzon et al,81 1998 | Canada (Toronto) and United States (Maryland) | 1/3 (33%) | ||
| Hashemi et al,82 2000† | Sweden | ✓ | 2/7 (29%) | |
| Auroy et al,83 2001† | France | 3/6 (50%) | ||
| Blackwood et al,84 2002 | United States (Pennsylvania) | ✓ | 3/9 (33%) | |
| Peris et al,85 2004 | Europe (Germany, Italy, and Austria) | 2/4 (50%) | ||
| Puig et al,86 2005 | Spain | ✓ | 5/9 (56%) |
CDKN2A, Cyclin-dependent kinase inhibitor 2A; nd, not discussed.
Bolded studies reflect large consortium-based data sets.
*
Blank = no family history of melanoma;
✓
ascertained multiple primary cases regardless of family history;
✓✓
ascertained by family history consistent with a melanoma-prone family.
†
Population in which common mutation accounts for majority of CDKN2A mutations identified.