Table 2.

TP53 Mutations and germ-line variants found in the eight samples analyzed

SampleChromosome positionRef. sequenceObserved genotypeLocationCodonEffectSequence depth1st call2nd callNote
N5237520197CC/GExon 472P→R95C (53)G (41)1
PC/JW7520197CG/GExon 472P→R6G (6)1
RKO7520197CC/GExon 472P→R7G (5)C (2)1
VACO4297520197CG/GExon 472P→R7G (7)1
SW14177519306AA/—Exons 5–27Intron8A (6)— (2)4
RKO7518341TT/AExons 7–8Intron16T (10)A (5)4
HTB-20D7517810GA/AExon 8285E→K36A (33)G (3)3
VACO4297517747CC/TExon 8306R→Stop154T (94)C (59)2
HTB-20D7517717GC/CExons 8 + 29Intron394C (391)G (2)3
COLO7417517610—/AAExon 9321Frameshift14AA (10)— (3)2*
RKO7517562AA/GExons 9 + 18Intron29G (17)A (12)3
  • Chromosome positions refer to sequence NC_000017.9. Sequences are presented in the TP53 coding strand polarity. Notes indicate the following: 1, Variation matches dbSNP entry rs1042522. 2, Mutation reported by Liu and Bodmer (20). 3, Confirmed by Sanger sequencing. 4, Contradicted by Sanger sequencing.

  • *This mutation is reported as homozygous by Liu and Bodmer (20).