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. Author manuscript; available in PMC: 2013 May 28.
Published in final edited form as: J Invest Dermatol. 2009 Sep 17;130(2):618–620. doi: 10.1038/jid.2009.287

Table 2.

NRAS and BRAF genotypes in familial melanomas harboring CDKN2A germline mutations

Tumor
number
CDKN2A mutation NRAS mutation BRAF mutation
Protein change Base change Protein change Base change Protein change Base change
1 p.A4_P11del c.9_32del24 WT none p.V600E c.1799T>A
2 p.A4_P11dup c.32_33dup9-32 WT none WT none
3 p.A4_P11 dup c.32_33 dup9-32 WT none WT none
4 p.A4_P11 dup c.32_33 dup9-32 WT none WT none
5 p.L16P c.47T>C WT none WT none
6 p.L16P c.47T>C WT none WT none
7 p.R24P c.71G>C WT none WT none
8 p.R24P c.71G>C WT none p.V600E c.1799T>A
9 p.R24P c.71G>C WT none p.V600E c.1799T>A
10 p.L32P c.95T>C p.Q61K c.181C>A p.V600E c.1799T>A
11 p.L32P c.95T>C p.Q61R c.182A>G p.V600E c.1799T>A
12 p.L32P* c.95T>C p.Q61K c.181C>A p.V600E c.1799T>A
13 p.L32P* c.95T>C WT none WT none
14 p.G35A c.104G>C WT none WT none
15 p.G35A c.104G>C WT none p.V600E c.1799T>A
16 p.M53I c.159G>C WT none WT none
17 p.G101W c.301G>T WT none WT none
18 p.G101W c.301G>T WT none WT none
19 p.G101W c.301G>T WT none WT none
Total: 19 3 (16%) 7 (37%)
*

Samples originating from the same patient

Samples originating from Genoa

Wild type