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Table 1 CDKN2A Somatic mutations identified to date (July 1996) in cell lines

From: The CDKN2A (p16) Gene and Human Cancer

Base

Event/Codon

Cell Line

Reference

Exon 1

   

25 ins TG

9

Pancr adeno

44

35 C>A

Ser12STOP

NSCLC

41

55 ins CGCGCAC

19

Ductal pancr

42

58 ins ACGGCC

20

Pancr adeno

36

58 G>C

Ala20Pro

Melanoma, lung

36

63 del 23 bp

21

Liver

36

? ins 1 bp

23

Colon

36

85 del 18 bp

29

Pancr adeno

42

101 del CGG

34

Ductal pancr

42

104 G>A

Gly35Glu

Melanoma

36

106 G>A

Ala36Thr

Pancr adeno

44

128 del GT

43

Melanoma

36

131 del 33 bp

44

Lung mucoepidermoid

36

134 del G

45

NSCLC SCC

36

142 CC>TT

Pro48Leu

Melanoma

36

143 C>T

Pro48Leu

Melanoma

36

148 C>T

Gln50STOP

Melanoma

36

int1-2 A>C

splice

Chondrosarcoma, NPC

36

int1-2 A>G

splice

Mesothelioma

36

int1-1 G>T

splice

HNSCC

36

int1-1 G>A

splice

NPC

36

Exon 2

   

155 T>A

Met52Lys

Ductal pancr

42

156 G>C

Met52Ile

Breast

65

161 del 14 bp

54

Oral SCC

36

167 ins 1 bp

56

Melanoma

36

171 C>A

Ala57Ala

Melanoma

36

171 CC>TT

Arg58STOP

Melanoma

36

172 C>T

Arg58STOP

Bladder, melanoma

36

172 del 8 bp

58

Melanoma

36

174 del 16 bp

58

Oral SCC

36

180 del 29 bp

60

T-ALL

66

180 ins 1 bp

60

Melanoma

36

181 G>T

Glu61STOP

Melanoma

36

182 A>G

Glu61Gly

Pancr adeno

44

183 G>C

Glu61Asp

Oral SCC

67

184 C>G

Leu62Val

Oral SCC

67

199 ins 1 bp

67

Melanoma

36

204 del 5 bp

68

Thyroid

68

205 G>T

Glu69STOP

Melanoma, NSCLC

36,41

206 A>T

Glu69Val

NSCLC SCC

36

207 G>C

Glu69Asp

Oral SCC

67

208 C>G

Pro70Ala

Oral SCC

67

216 C>A

Cys72STOP

NSCLC

41

220 G>A

Asp74Asn

Bladder

36

231 del TCTC

77

Oral SCC

36

233 a del TC

78

Pancr adeno, bladder, oral SCC

36,37

237CC>TT

Arg80STOP

Melanoma, liposarcoma

36,40

238 C>T

Arg80STOP

Melanoma, myeloid leukemia, T-ALL, Triyroid, Oral SCC

36,67–69

242 C>T

Pro81Leu

Melanoma

36

247 C>T

His83Tyr

Melanoma, NSCLC

36,70

250 G>T

Asp84Tyr

Prostate

36

261 GG>AA

Glu88Lys

Melanoma

36

262 G>A

Glu88Lys

Melanoma

36

262 G>T

Glu88STOP

Melanoma

36

264 GG>AA

Gly89Ser

Melanoma

36

290

5bp del 97

Melanoma

36

295

3bp del 99

Melanoma

36

296 GG>CA

Arg99Pro

Melanoma

36

? G>A

101

Leukemia

71

320 G>A

Arg107His

Leukemia

71

322 G>C

Asp108His

Bladder

36

329 G>A

Trp110STOP

Melanoma

36

330 G>A

Trp110STOP

Melanoma, ovary

36

335 G>C

Arg112Pro

Melanoma

36

341 C>T

Pro114Leu

Melanoma, fibrosarcoma

36

346 G>T

Asp116Tyr

Melanoma

40

358 G>T

Glu120STOP

Oral SCC

67

? del

122

Leukemia

71

? G>C

122

Leukemia

71

369 T>A

His123Gln

NSCLC

41

378 C>T

Val126Val

Melanoma

36,72

386 A>G

Tyr129Cys

Pancr adeno

44

425 A>G

His142Arg

Melanoma

36

int2 +1 G>T

splice

NSCLC

36

int2 +2 T>C

splice

Ductal pancr

55

  1. Underlined mutations appear in both cell lines and primary tumors. Question marks indicate information not specified in the original sources. The following abbreviations appear in the tables: pancr, pancreas; adeno, adenocarcinoma; SCC, squamous cell carcinoma; NSCLC, non-small cell lung cancer; NPC, nasopharyngeal carcinoma; HNSCC, head and neck squamous cell carcinoma (HNC, head and neck cancer); T-ALL, T-lymphocyte acute lymphoblastic leukemia. Since we have built upon the databases of CDKN2A somatic mutations compiled by Pollock et al. (36) and Smith-Sorensen and Hovig (37), we do not quote the primary sources for most of the mutations reported in these two publications. Please see these reviews for the original references.
  2. aBecause of the ambiguity involved in assigning nucleotide positions to certain deletions, this deletion is numbered from where the wild-type sequence first changes.
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Molecular Medicine

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