Table 2. Mutations in p16/CDKN2a detected in patients with Barrett's esophagus.
Alteration* | Diagnosis | p14ARF status | Percent of BE segment |
172C>Td | HGD | Pro to Leu | 29 |
172C>T | Metaplasia | Pro to Leu | 50 |
172C>T | HGD | Pro to Leu | 43 |
172C>T | IND/LGD | Pro to Leu | 67 |
172C>T | HGD | Pro to Leu | 33 |
172C>T | HGD | Pro to Leu | 100 |
172C>Ta , d | HGD | Pro to Leu | No data |
172C>Tb | HGD | Pro to Leu | 33 |
174_175del2 | IND/LGD | Frameshift | 100 |
175_221del47 | IND/LGD | Frameshift | 25 |
179C>A | IND/LGD | No alteration | 100 |
179_183dup5 | IND/LGD | Frameshift | 100 |
182_283del102 | Metaplasia | deletion | 100 |
181G>T | Metaplasia | Gly to Val | 67 |
191_205del15 | HGD | deletion | 100 |
198_343del146 | IND/LGD | deletion/frameshift | 100 |
202G>A | IND/LGD | Arg to His | 50 |
220G>A | IND/LGD | Arg to Gln | 75 |
233_234del2c | IND/LGD | Frameshift | 43 |
235_245del11 | IND/LGD | Frameshift | 100 |
238C>T | Metaplasia | Pro to Leu | 100 |
238C>Td | HGD | Pro to Leu | 50 |
238C>T | IND/LGD | Pro to Leu | 40 |
238C>T | Metaplasia | Pro to Leu | 100 |
238C>T | IND/LGD | Pro to Leu | 100 |
238C>T | IND/LGD | Pro to Leu | 33 |
238C>T | IND/LGD | Pro to Leu | 17 |
238C>T | IND/LGD | Pro to Leu | 17 |
238C>T | IND/LGD | Pro to Leu | 100 |
238C>T | IND/LGD | Pro to Leu | 100 |
238C>T | IND/LGD | Pro to Leu | 50 |
238_254del17 | IND/LGD | Frameshift | 100 |
238C>T | IND/LGD | Pro to Leu | 100 |
238C>T | HGD | Pro to Leu | 25 |
247C>Tc | IND/LGD | Ala to Val | 14 |
247C>T | IND/LGD | Ala to Val | 50 |
247C>T | HGD | Ala to Val | 100 |
247C>T | IND/LGD | Ala to Val | 80 |
247C>T | IND/LGD | Ala to Val | 25 |
247C>T | HGD | Ala to Val | 100 |
262G>T | IND/LGD | Gly to Val | 100 |
262G>T | IND/LGD | Gly to Val | 25 |
289delCd | HGD | Frameshift | 33 |
290 T>Cb | HGD | No alteration | 33 |
330 G>A | IND/LGD | Gly to Arg | 100 |
323_341dup19 | IND/LGD | Frameshift | 50 |
387C>Aa , d | HGD | Pro to Thr | 100 |
indicates three patients each having two distinct alterations found at different levels in the esophagus.
indicates mutation that was also found in esophagectomy specimen from the same patient.
Reference sequence used was NM_000077; nucleotide numbering is as found in The CDKN2A Database[4]. Diagnosis is at baseline endoscopy.
Indicates the percentage of the esophagus having Barrett's epithelium that contained the mutation.