TABLE 5.
Prevalence of Pancreatic Cancer in Melanoma-prone Families for 10 Pathogenic CDKN2A Variants
No. Families | Variant* | No. Families With a Member Affected With PDAC |
---|---|---|
21 | p.A76fs | >60% |
19 | p.M53I | <11% |
16 | p.G101W | 35% to 50% |
11 | p.R112_L113insR | >60% |
11 | c.−34G>T | 15% to 25% |
11 | c.IVIS2–105A>G | <11% |
9 | p.R24P | 15% to 25% |
7 | p.V126D | 35% to 50% |
6 | p.L32P | 35% to 50% |
6 | c.32_33ins9–32 | <11% |
Variant position given in reference to NP_000068.1 for protein change (p.) and NM_000077.4 for transcript change (c.). PDAC – pancreatic adenocarcinoma.