Table 1.

Clinical and genetic status of TP53 mutation carriers

FamilyIndexAge (y)StatusTP53 mutationTumorRemarks
1Proband0.9AffectedArg175HisCPCMultiple tumors
Father30Not affectedArg175His
2Proband1.1AffectedHis193ProCPC, ADCCMultiple tumors
No family history
3Proband6AffectedSer273ArgADCCMultiple tumors
Mother27AffectedSer273ArgMFH
Sister7AffectedSer273ArgCPCMultiple tumors
4Proband14AffectedArg175HisGlioblastoma
Sister21AffectedArg175HisBreast cancer
Mother26AffectedArg175HisBreast cancerMultiple tumors
5Proband25AffectedIVS03-11 C>GBreast cancer
Son5Not affectedIVS03-11 C>G
6Proband3AffectedArg158HisCPC
Brother0AffectedArg158HisNeuroblastoma
Mother26Not affectedArg158His
7Proband2.5AffectedArg248GlnMedulloblastoma
Father37Not affectedArg248Gln
Brother7Not affectedArg248Gln
Brother15AffectedArg248GlnOsteosarcoma
8Proband2.7Affected12138 insC; pro72fsRMSMultiple tumors
Father39Not affected12138 insC; pro72fs
9Proband2AffectedPro152LeuADCC
Mother47AffectedPro152LeuBreast cancerMultiple tumors
Maternal uncle61AffectedPro152LeuMFH
  • NOTE: Age of first cancer and/or blood sampling in TP53 mutation carriers in the study. WT family members and controls are not included. The tumor type represents the first cancer in patients with multiple tumors.

    Abbreviations: ADCC, adrenocortical carcinoma; CPC, choroid plexus carcinoma; MFH, malignant fibrous histiocytoma; RMS, rhabdomyosarcoma.