Table 2.
Characteristics of 33 XP melanomas with PTEN mutations
| Patient* | Tumor no. | Tumor |
Mutated codon |
PTEN gene |
||||
|---|---|---|---|---|---|---|---|---|
| Histologic type† | Location | Mutation‡ | UV type mut?§ | LOH?¶ | Amino acid sub | |||
| XP295BE | 1 | MIS | ARM | 95 | cCc283cTc | + | − | Pro/Ser‖ |
| XP295BE | 2 | MIS | ABD | 72 | cTg216cCg | + | − | - |
| XP295BE | 2 | 74 | gAc222 gGc | + | − | - | ||
| XP295BE | 2 | 245 | aGc735aTc | + | − | Gln/His | ||
| XP295BE | 3 | MIS | ANKLE | 267 | aGg801aTg | + | − | Leu/Asn |
| XP86BE | 4 | MIS | BACK | 301 | aTa903aCa | − | + | - |
| XP86BE | 4 | 332 | aAg996aGg | + | + | - | ||
| XP376BE | 5 | MIS | SHIN | 154 | tCt462tGt | + | + | Phe/Leu‖ |
| XP376BE | 6 | MIS | ARM | intron 4 | aGt→aAt | + | + | Splice |
| XP21BE | 7 | MIS | LEG | 230 | aGg688aTg | + | − | Gly/Stop |
| XP21BE | 7 | 316 | tCt946tTt | + | + | - | ||
| XP21BE | 8 | MIS | LEG | 312 | aCa936aTa | − | − | - |
| XP21BE | 9 | MIS | THIGH | 250 | gTg750 gCg | − | − | - |
| XP21BE | 10 | IM | LEG | 362 | tCa1085tTa | + | − | Ser/Leu |
| XP21BE | 11 | MIS | LEG | 98 | gCt292 gTt | + | + | - |
| XP21BE | 11 | 104 | tTt311tCt | + | − | Phe/Ser | ||
| XP24BE | 12 | MIS | LEG | 98 | gCt292 gTt | + | + | - |
| XP24BE | 13 | MIS | ANKLE | 95 | cAc285cTc | − | + | - |
| XP24BE | 13 | 110 | cAa329cGa | + | + | Gln/Arg | ||
| XP29BE | 14 | IM | SCALP | 95 | cCc283cTc | + | − | Pro/Ser‖ |
| XP29BE | 14 | 103 | cCt309cTt | + | − | - | ||
| XP29BE | 14 | 114 | aAg342aTg | + | − | Glu/Asp | ||
| XP29BE | 15 | MIS | BACK | 362 | tTc1084tCc | + | + | Ser/Leu |
| XP29BE | 16 | MIS | CHEEK | 236 | gAc707 gGc | + | − | Asp/Gly |
| XP29BE | 17 | MIS | SHOULDER | 243 | tTc728tCc | + | + | Phe/Ser |
| XP29BE | 17 | 223 | aAg668aGg | + | + | Lys/Arg | ||
| XP29BE | 18 | MIS | SHOULDER | 98 | gCt292 gTt | + | − | - |
| XP29BE | 19 | MIS | Cheek | 134 | aTg401aCg | − | − | Met/Thr |
| XP29BE | 20 | IM | Chin | 98 | gCt292 gTt | + | − | - |
| XP29BE | 21 | MIS | ARM | 272 | cAc815cGc | − | − | His/Gln |
| XP29BE | 21 | 291 | gAg872 gGa | + | − | Glu/Gly | ||
| XP29BE | 22 | MIS | SCALP | 325 | tCt973tTt | + | + | Leu/Phe |
| XP29BE | 23 | IM | Chin | 98 | gCt292 gTt | + | + | - |
| XP29BE | 23 | 149 | aAg447aCg | + | − | Gln/His | ||
| XP1BE | 24 | MIS | LEG | 55 | aGg164aAg | + | − | Arg/Lys |
| XP1BE | 24 | 235 | gGa703 gAa | + | − | Glu/Lys | ||
| XP1BE | 25 | MIS | LEG | 25 | cTt73cCt | + | − | - |
| XP1BE | 26 | MIS | LEG | 248 | cTg744cCg | + | − | - |
| XP1BE | 27 | MIS | SHIN | 9 | gTt26 gCt | + | − | Val/Ala |
| XP1BE | 28 | MIS | FOOT | 301 | cGa901cAa | + | + | Asp/Asn |
| XP1BE | 29 | MIS | FOOT | 23 | cTt67cCt | + | − | - |
| XP1BE | 29 | MIS | FOOT | 16 | aTc48aAc | + | − | Tyr/Stop |
| XP1BE | 29 | MIS | FOOT | 44 | gGc131 gAc | + | + | Gly/Asp |
| XP1BE | 30 | IM | LEG | 70 | cTt209cCt | + | − | Leu/Pro |
| XP1BE | 30 | 301 | cGa901cAa | + | + | Asp/Asn | ||
| XP1BE | 30 | intron 8 | aAg→aGg | + | + | Splice | ||
| XP1BE | 31 | IM | LEG | 83 | tTg247tCg | + | − | Cys/Arg |
| XP1BE | 32 | MIS | LEG | 24 | gAc71 gGc | + | − | Asp/Gly |
| XP1BE | 32 | 44 | gGc131 gAc | + | + | Gly/Asp | ||
| XP1BE | 32 | 84 | cAg250cGg | + | − | Arg/Gly | ||
| XP1BE | 33 | MIS | BACK | 95 | cCc283cTc | + | − | Pro/Ser‖ |
| XP1BE | 33 | 301 | cGa901cAa | + | − | Asp/Asn | ||
| XP1BE | 33 | 388 | aGa1162aAa | + | + | Glu/Lys | ||
| XP1BE | 33 | 403 | aGt1207aAt | + | + | Val/Iie | ||
*Patients are indcated by XP numbers
†MIS Melanoma in situ, IM invasive melanoma
‡Base substitution mutations are indicated as capital letters with adjacent nucleotides and cDNA location on the coding strand
§+dipyrimidine, − not dypyrimidine
¶+ loss of heterozygosity, − no loss of heterozygosity
‖Cancer associated mutation listed in Sanger database Catalogue of Somatic Mutations in Cancer