The CDKN2A (p16) Gene and Human Cancer

Foulkes, William D.; Flanders, Tamar Y.; Pollock, Pamela M.; Hayward, Nicholas K.

doi:10.1007/BF03401664

Molecular Medicine

Table 2 CDKN2A somatic mutations identified to date (July 1996) in primary tumors

From: The CDKN2A (p16) Gene and Human Cancer

Base	Event/Codon	Tumor	Reference
Exon 1
?-17 del 24 bp	1–3	Prostate	36
? ins C	4	Melanoma	73
15 del 37 bp	5	Pancr adeno^a	36
23 del GCATGGA	8	ALL	74
/insTCCCGG 27 G>A	Met9lle	Hilar bile duct	36
33 del 35 bp	11	B-NHL	75
42 C>G	Asp14Glu	Gall bladder	36
47 del 4 bp	16	Pancr adeno^a, esoph SCC, glioblastoma	55,76,77
47 T>C	Leu16Pro	Hilar bile duct	36
52 del 32 bp	18	Pancr adeno	56
57 del C	19	NSCLC	78
58 G>T	Ala20Ser	Gall bladder	36
59 C>A	Ala20Glu	NSCLC	70
68 del G	23	NSCLC	78
68 G>A	Gly23Asp	Pancr^a	36
71 G>C	Arg24Pro	Sarcoma	45
74 T>C	Val25Ala	Prostate	79
78 G>C	Glu26Asp	Gall bladder	36
? del 21 bp	29	Pancr adeno	56
88 G>C	Ala30Pro	Esoph SCC	36
97 G>T	Glu33STOP	HNSCC	36
99 G>T	Glu33Asp	Hilar bile duct	36
109 C>T	Leu37Leu	Melanoma	80
124 A>G	Asn42Asp	Ductal pancr	42
132 C>A	Tyr44STOP	NSCLC	36
143 C>T	Pro48Leu	HNSCC	36
146 T>G	Ile49Ser	Hilar bile duct	36
148 C>T	Gln50STOP	Esoph SCC	76
150 G>CC	Gln50 His/Val51Leu	Melanoma	81
int1-1 G>T	splice	NSCLC SCC	82
int 1–8 del 27 bp	splice	CLL	83
int 1–9 del 61 bp	splice	Bladder	36
int 1–2 A>T	splice	Bladder	36
Exon 2
151 G>A	Val51lle	Ductal pancr	42
152 T>A	Val51Asp	Pancr adeno	36
155 T>A	Met52Lys	Breast	36
157 del A	53	Bladder	36
158 T>C	Met53Thr	CLL	83
160 del A	54	Pancr adeno	56
164 del G	55	Esoph SCC	36
165 ins 1 bp	55	Endomet	36
166 del AG	56	NSCLC SCC	36
169 del 13	57	B-NHL	75
171 del CC	57	Ductal pancr	42
170 C>T	Ala57Val	ALL	36
172 C > T	Arg58STOP	Esoph SCC, bladder, NSCLC SCC, pancr adeno	56,82
174 ins 7 bp	58	T-ALL	66
176 ins G	59	NSCLC adeno	36
181 G > T	Glu61STOP	Esoph SCC, HNSCC	36
192 del GCT	64	NSCLC SCC	36
194 del 50 bp	65	Esoph SCC	36
196 del 1 bp CAC>TA	His66STOP	Melanoma	73
196 C>T	His66Tyr	NSCLC SCC	36
202 G>A	Ala68Thr	Esoph SCC	36
205 G > T	Glu69STOP	NSCLC	41
205 G>A	Glu69Lys	Bladder	37
213	71	T-ALL	66
AAC>AAGGTCG 214 T>G	Cys72Gly	Esoph SCC	36
216 del C	72	NSCLC large cell	82
216 C > A	Cys72STOP	NSCLC	41
217 G>A	Ala73Thr	Glioblastoma	84
220 G > A	Asp74Asn	Esoph SCC	36
221 A>T	Asp74Val	Hepatic bile duct	36
224 C>T	Pro75Leu	Breast	85
226 G>A	Ala76Thr	Esoph SCC	36
227 C>T	Ala76Val	Glioblastoma	84
233# del TC	78	T-ALL	86
238 C>T	Arg80STOP	Esoph SCC, NSCLC SCC, bladder, T-ALL, pancr^a, oral SCC	36,56,67,86
239 del G	80	Esoph SCC, B-NHL	36,75
239 G>T	Arg80Leu	HNSCC	36
242 C > T	Pro81Leu	Melanoma, thyroid	36,87
243 ins 19 bp	82	Pancr adeno	56
247 C>A	His83Asn	NSCLC SCC	36
247 C > T	His83Tyr	HNSCC, pancr^a, breast	36
250 G>A	Asp84Asn	Esoph SCC, NSCLC adeno, HNSCC	36
250 G>C	Asp84His	NSCLC adeno	36
250 G > T	Asp84Tyr	NSCLC SCC	36
252 C>A	Asp84Glu	Bladder	37
253 G>A	Ala85Thr	Glioblastoma	84
257 ins G	86	NSCLC large cell	36
262 G > T	Glu88STOP	NSCLC SCC, melanoma	81,82
264 G>T	Glu88Asp	Gall bladder	36
266 del GC	89	HCC	88
271# del C	91	Pancr adeno^a, bladder	36,89
274 del G	92	NSCLC SCC	36
277 A>G	Thr93Ala	NSCLC adeno	36
278 C>G	Thr93Arg	Glioma	36
284 T>C	Val95Ala	NSCLC adeno	36
292 C>T	His98Tyr	Glioblastoma	84
293 AC>CT	His98Pro	Melanoma	36
293 A>G	His98Arg	CLL	83
294 C>A	His98Leu	Melanoma	36
296 C>A	Arg99Gln	NSCLC adeno	36
298 GC>CT	Ala100Leu	Melanoma	36
305 C>T	Ala 102 Val	Glioblastoma	84
307 del CG/ins A	103	NSCLC SCC	82
310 del C	104	Esoph SCC	36
313 del G	105	Esoph SCC	36
314 del 20 bp	105	Pancr adeno^a	36
316 G>A	Val106Met	Glioblastoma	84
319 C>T	Arg107Cys	Glioblastoma	84
322 G>T	Asp108Tyr	HNSCC, NSCLC SCC	82
329 G>A	Trp110STOP	Melanoma	36
330 G>A	Trp110STOP	Melanoma, pancr^a, glioma, T-ALL	36,90
332 G>A	Gly111Asp	Bladder	89
334 C>G	Arg112 Gly	Melanoma	73
340 C>T	Pro114Ser	Esoph SCC	36
341 C>T	Pro114Leu	Astrocytoma	36
347 A>T	Asp116Val	Prostate, CLL	79,83
350 del T	117	Bladder	89
352–440 88 bp del	118	Glioma	84
355 G>C	Glu119Gln	Gall bladder	36
358 G>T	Glu120STOP	Esoph adeno, NSCLC	36
358 G>A	Glu120Lys	NSCLC adeno, SCC	36
359 A>C	Glu120Ala	NSCLC adeno	36
364 G>A	Gly122Ser	Ampullary	36
365 del G	122	NSCLC SCC	36
369 T>A	His123Gln	CLL	36
371 G>A	Arg124His	Esoph SCC	36
374 del A	125	T-ALL	86
375 T>C	Asp125Asp	Bile duct	36
378 C>T	Val126Val	Bladder	72
379 G>T	Ala127Ser	Bladder	91
380 C>T	Ala127Val	Glioblastoma	84
382 C>T	Arg128Trp	Glioblastoma	84
385 del 23 bp	129	Pancr adeno	56
394 G>C	Ala132Pro	NSCLC adeno	36
401 C>T	Ala134Val	NSCLC adeno	36
405 G>A	Gly135Gly	Gall bladder, glioma, NSCLC, stomach, T-ALL	41,66,92,93
406 del GG	136	Esoph SCC	36
407 G>A	Gly136Asp	Glioblastoma	84
424 C>T	His142Tyr	NSCLC adeno	36
430 del C	144	Esoph SCC	36
430 C>T	Arg144Cys	Esoph SCC	36
449 G>T	Gly150Val	NSCLC SCC	36
451 C>T	Pro151Ser	Melanoma	80
int2 + 1 G > T	splice	NSCLC	41
int2 + 2 T>C	splice	Pancr^a	36

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; esoph, esophagus; adeno, adenocarcinoma; SCC, squamous cell carcinoma; ALL, acute lymphoblastic leukemia (T-ALL, T-lymphocyte ALL); CLL, chronic lymphoblastic leukemia; NSCLC, non-small cell lung cancer; HNSCC, head and neck squamous cell carcinoma; B-NHL, B-lymphocyte non-Hodgkin’s lymphoma; HCC, hepatocellular carcinoma. 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 primary sources for most of the mutations reported in these two publications. Please see these reviews for the original references.
^aXenograft.
^bBecause of the ambiguity involved in assigning nucleotide positions to certain deletions, these deletions are numbered from where the wild-type sequence first changes.

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