Table 1.

p53 mutations found in BRCA1-related breast tumors

Tumor sampleDeleterious mutationsNeutral missense mutationsSilent mutations% p53IHC
B107G266E (100%)D41N (10%), D42N (10%), P82S (10%)0
B109R213X (100%), H214Y (100%), T118I (20%)P92S (100%)Y103Y (20%)0
B122239 insT (50%), P177L (15%)A161A (25%)0
B137224 splice G>A (80%), H214Y (15%)C135C (20%)0
B141P309L (50%), P92S (30%)1
B145110 delC (100%), Q100X (100%)P87L (100%)0
B146145 delG (100%), Q104X (80%), P98S (70%), P190S (20%)A76V (70%), C229Y (25%)A84A (80%), S46S (40%), S9S (15%)0
B150V216M (50%), P223S (50%), R290C (50%)P222L (50%)L289L (35%)0
B160167 insA (50%)V217M * (50%)L206L (50%), V218V (50%), P36P * (10%), S314S (20%)0
B164258 delG (50%)0
B171R306X (80%)0
B116Y163C (100%)P92P (25%)100
B126del 255 (50%)100
B127T55I (100%)D21D (20%), G302G (15%), K101K (15%)100
B135T304I (35%)L308L (25%)100
B149R273H (100%)100
B152R175H (30%)100
B153del 155-156 (90%)H297Y (50%)R213R * (100%)100
B156R248W (50%), R280K (90%), V218I (100%)R209K (100%)E171E (100%)100
B158R282G (75%), E326K (40%), S315F (20%)P322L (40%), P316S (20%), T329I (20%), P309L (15%)70
B161R213X (50%), P151R (50%), R282W (30%)V272V (25%)100
  • NOTE: p53 sequence was compared with a consensus sequence as given by the IARC TP53 database. Mutations are classified by their (predicted) effect on p53 function. Deleterious p53 mutations include truncating mutations (red), in-frame deletions (green), and common hotspot p53 mutations according to Walker and colleagues (blue). Other missense mutations are classified by the effect predicted by the SIFT algorithm to be deleterious or neutral (black). Codons H214, P177, H214, and V216 were also identified as hotspots by Walker and colleagues, but these did not occur as frequently as the common hotspots. All mutations are shown in bold print, except when the abundance of the aberrant base within the p53 mutation was estimated <25%. These mutations were not taken along in data set comparisons.

  • * Known SNP.

  • V218I: valine (GTG) > isoleucine (ATA): two homozygous mutations in one codon. p53IHC: percentage of tumor cells that stain positive with immunohistochemistry.