103 Matching Annotations
  1. Mar 2021
    1. Cells reconstituted with WT-PALB2 showed substantially less sensitivity to olaparib than cells expressing p.A1025R and p.I944N (Fig. 4a). Similar results were observed for cisplatin treatment, although the difference in sensitivity was less pronounced (Fig. 4b). p.L24S, p.L1070P, and p.L35P were also associated with greater sensitivity to olaparib (Fig. 4c) and cisplatin (Fig. 4d) than WT-PALB2.

      AssayResult: 0.01 µM: 100; 0.1 µM: 65; 0.8 µM: 18; 1 µM: 15

      AssayResultAssertion: Abnormal

      Approximation: Exact cisplatin concentrations and assay result values not reported; values estimated from Figures 4b and 4d.

    2. Cells reconstituted with WT-PALB2 showed substantially less sensitivity to olaparib than cells expressing p.A1025R and p.I944N (Fig. 4a). Similar results were observed for cisplatin treatment, although the difference in sensitivity was less pronounced (Fig. 4b). p.L24S, p.L1070P, and p.L35P were also associated with greater sensitivity to olaparib (Fig. 4c) and cisplatin (Fig. 4d) than WT-PALB2.

      AssayResult: 0.01 µM: 80; 0.1 µM: 52; 0.8 µM: 18; 1 µM: 5

      AssayResultAssertion: Abnormal

      Approximation: Exact cisplatin concentrations and assay result values not reported; values estimated from Figures 4b and 4d.

    3. Cells reconstituted with WT-PALB2 showed substantially less sensitivity to olaparib than cells expressing p.A1025R and p.I944N (Fig. 4a). Similar results were observed for cisplatin treatment, although the difference in sensitivity was less pronounced (Fig. 4b). p.L24S, p.L1070P, and p.L35P were also associated with greater sensitivity to olaparib (Fig. 4c) and cisplatin (Fig. 4d) than WT-PALB2.

      AssayResult: 0.01 µM: 102; 0.1 µM: 65; 0.8 µM: 18; 1 µM: 10

      AssayResultAssertion: Abnormal

      Approximation: Exact cisplatin concentrations and assay result values not reported; values estimated from Figures 4b and 4d.

    4. Cells reconstituted with WT-PALB2 showed substantially less sensitivity to olaparib than cells expressing p.A1025R and p.I944N (Fig. 4a). Similar results were observed for cisplatin treatment, although the difference in sensitivity was less pronounced (Fig. 4b). p.L24S, p.L1070P, and p.L35P were also associated with greater sensitivity to olaparib (Fig. 4c) and cisplatin (Fig. 4d) than WT-PALB2.

      AssayResult: 0.01 µM: 85; 0.1 µM: 40; 0.8 µM: 20; 1 µM: 13

      AssayResultAssertion: Abnormal

      Approximation: Exact cisplatin concentrations and assay result values not reported; values estimated from Figures 4b and 4d.

    5. Cells reconstituted with WT-PALB2 showed substantially less sensitivity to olaparib than cells expressing p.A1025R and p.I944N (Fig. 4a). Similar results were observed for cisplatin treatment, although the difference in sensitivity was less pronounced (Fig. 4b). p.L24S, p.L1070P, and p.L35P were also associated with greater sensitivity to olaparib (Fig. 4c) and cisplatin (Fig. 4d) than WT-PALB2.

      AssayResult: 0.01 µM: 90; 0.1 µM: 60; 0.8 µM: 15; 1 µM: 15

      AssayResultAssertion: Abnormal

      Approximation: Exact cisplatin concentrations and assay result values not reported; values estimated from Figures 4b and 4d.

    6. Cells reconstituted with WT-PALB2 showed substantially less sensitivity to olaparib than cells expressing p.A1025R and p.I944N (Fig. 4a). Similar results were observed for cisplatin treatment, although the difference in sensitivity was less pronounced (Fig. 4b). p.L24S, p.L1070P, and p.L35P were also associated with greater sensitivity to olaparib (Fig. 4c) and cisplatin (Fig. 4d) than WT-PALB2.

      AssayResult: 0.01 µM: 65; 0.08 µM: 50; 0.8 µM: 30; 8 µM: 20

      AssayResultAssertion: Abnormal

      Approximation: Exact Olaparib concentrations and assay result values not reported; values estimated from Figures 4a and 4c.

    7. Cells reconstituted with WT-PALB2 showed substantially less sensitivity to olaparib than cells expressing p.A1025R and p.I944N (Fig. 4a). Similar results were observed for cisplatin treatment, although the difference in sensitivity was less pronounced (Fig. 4b). p.L24S, p.L1070P, and p.L35P were also associated with greater sensitivity to olaparib (Fig. 4c) and cisplatin (Fig. 4d) than WT-PALB2.

      AssayResult: 0.01 µM: 102; 0.1 µM: 85; 0.8 µM: 55; 1 µM: 25

      AssayResultAssertion: Normal

      ControlType: Normal; wild type PALB2 cDNA

      Approximation: Exact cisplatin concentrations and assay result values not reported; values estimated from Figures 4b and 4d.

    8. Viability assayPALB2 variants were introduced into B400 cells using mCherry-pOZC expression vector and flow cytometry for Cherry-red was performed to select for cells expressing PALB2. Sorted cells were plated in 96-well plates and exposed to increasing amounts of Olaparib or cisplatin and incubated for a period of 5 days. Presto Blue (Invitrogen) was added and incubated for 1–2 hours before measuring fluorescence intensity on a Cytation 3 microplate reader (BioTek).

      AssayGeneralClass: BAO:0003009 cell viability assay

      AssayMaterialUsed: CLO:0036938 tumor-derived cell line

      AssayDescription: Transient expression of wild type and variant mCherry-tagged PALB2 cDNA constructs in Trp53 and Palb2-null mouse cell line; exposure to increasing concentrations of cisplatin for 5 days induces interstrand-crosslink DNA damage; cell survival is determined by measuring fluorescence intensity after staining with a cell viability reagent.

      AssayReadOutDescription: Percent cell survival after treatment with cisplatin

      AssayRange: %

      AssayNormalRange: Cisplatin resistance levels comparable to that of cells expressing wild type PALB2; no numeric threshold given

      AssayAbnormalRange: Not reported

      AssayIndeterminateRange: Not reported

      ValidationControlPathogenic: 0

      ValidationControlBenign: 0

      Replication: Not reported

      StatisticalAnalysisDescription: Not reported

    9. WT-PALB2 was associated with robust formation of damage-induced RAD51 foci, whereas the four variants were associated with defective foci formation (Fig. 3d, e).

      AssayResult: 1

      AssayResultAssertion: Abnormal

      Approximation: Exact assay result value not reported; value estimated from Figure 3e.

    10. Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).

      AssayResult: 0.8

      AssayResultAssertion: Abnormal

      StandardErrorMean: 0.14

    1. While 3 VUS (p.W912G, p.L961P, and p.G1043D) had a dramatic impact on the percentage of cells showing RAD51 foci, 2 VUS (p.G937R and p.L947S) displayed a more minor effect.

      AssayResult: 19.52 foci/cell

      AssayResultAssertion: Indeterminate (described as "minor effect")

      Range: 0 - 70

      Comment: Exact values reported in "Source Data" file

    2. While 3 VUS (p.W912G, p.L961P, and p.G1043D) had a dramatic impact on the percentage of cells showing RAD51 foci, 2 VUS (p.G937R and p.L947S) displayed a more minor effect.

      AssayResult: 15.80 foci/cell

      AssayResultAssertion: Indeterminate (described as "minor effect")

      Range: 0 - 74

      Comment: Exact values reported in "Source Data" file

    3. While 3 VUS (p.W912G, p.L961P, and p.G1043D) had a dramatic impact on the percentage of cells showing RAD51 foci, 2 VUS (p.G937R and p.L947S) displayed a more minor effect.

      AssayResult: 13.96 foci/cell

      AssayResultAssertion: Abnormal

      Range: 0 - 69

      Comment: Exact values reported in "Source Data" file

    4. While 3 VUS (p.W912G, p.L961P, and p.G1043D) had a dramatic impact on the percentage of cells showing RAD51 foci, 2 VUS (p.G937R and p.L947S) displayed a more minor effect.

      AssayResult: 3.19 foci/cell

      AssayResultAssertion: abnormal

      Range: 0 - 32

      Comment: Exact values reported in "Source Data" file

    5. While 3 VUS (p.W912G, p.L961P, and p.G1043D) had a dramatic impact on the percentage of cells showing RAD51 foci, 2 VUS (p.G937R and p.L947S) displayed a more minor effect.

      AssayResult: 1.24 foci/cell

      AssayResultAssertion: Abnormal

      Range: 0 - 25

      Comment: Exact values reported in "Source Data" file

    6. Following exposure to IR, the average number of RAD51 foci was scored in cyclin-A- and YFP-PALB2-expressing S-phase cells

      AssayResult: 24.90 foci/cell

      AssayResultAssertion: Normal

      Range: 1 - 90

      ControlType: Normal; wild type PALB2 cDNA

      Comment: Exact values reported in "Source Data" file

    7. To further assess the impact of the 5 selected VUS on PALB2, we examined whether they affected the accumulation of RAD51 at IR-induced DSBs by measuring the formation RAD51 foci.

      AssayGeneralClass: BAO:0000450 fluorescence microscopy

      AssayMaterialUsed: CLO:0003684 HeLa cell

      AssayDescription: Transient expression of wild type and variant PALB2 cDNA constructs in HeLa cells following PALB2 siRNA knockdown; exposure ionizing radiation induces DNA damage; RAD51 foci formation is measured by immunofluorescence microscopy 4 h after irradiation

      AssayReadOutDescription: Number of RAD51 foci per S-phase cell (determined by cyclin A detection)

      AssayRange: foci/cell

      AssayNormalRange: RAD51 foci numbers comparable to that of cells expressing wild type PALB2; no numeric threshold given

      AssayAbnormalRange: RAD51 foci numbers comparable to that of cells expressing empty vector; no numeric threshold given

      AssayIndeterminateRange: Not reported

      ValidationControlPathogenic: 0

      ValidationControlBenign: 0

      Replication: 3 independent experiments

      StatisticalAnalysisDescription: Not reported

    8. Source Data

      AssayResult: 83.16

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 0.2

      Comment: Exact values reported in “Source Data” file.

    9. Source Data

      AssayResult: 67.82

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 10.97

      Comment: Exact values reported in “Source Data” file.

    10. Source Data

      AssayResult: 44.9

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 9.75

      StandardErrorMean: 6.89

      Comment: Exact values reported in “Source Data” file.

    1. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 0.1

      AssayResultAssertion: Abnormal

      ReplicateCount: 19

      StandardErrorMean: 0.1

      Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1. (Personal communication: A. Glazer)

    1. We then applied the p53 functional assay on blood samples sent to our laboratory for TP53 molecular analysis (NGS screening of the 11 exons complemented by QMPSF). Molecular and functional analyses were performed in parallel, in double blind conditions.

      AssayGeneralClass: BAOCL:20:0010044 targeted transcriptional assay

      AssayMaterialUsed: CL:2000001 peripheral blood mononuclear cell from patients

      AssayDescription: Comparative transcriptomic analysis using reverse transcription to compare peripheral blood mononuclear cells of patients with wild type or pathogenic TP53 variants in the context of genotoxic stress induced by doxorubicin treatment. p53 RNA levels were evaluated and expressed as a percentage of the mean levels obtained for the three wild-type TP53 individuals.

      AdditionalDocument: PMID: 23172776

      AssayReadOutDescription: The p53 mRNA levels were expressed as a ratio of the normal values obtained for 3 TP53 wild-type control individuals.

      AssayRange: UO:0000187 the p53 RNA levels were evaluated and expressed as a percentage of the mean levels obtained for three wild-type TP53 individuals.

      AssayNormalRange: >65%

      AssayAbnormalRange: <65%

      AssayIndeterminateRange: N/A

      AssayNormalControl: wild type TP53

      AssayAbnormalControl: LFS patient cells

      ValidationControlPathogenic: 8 individuals had seven distinct TP53 variants which could be considered as likely pathogenic or pathogenic based on their ClinVar classification or their truncating nature.

      ValidationControlBenign: 51 individuals had no detectable germline TP53 variant

      Replication: at least two wells were seeded per patient (treated and untreated) and duplicates or triplicates were performed whenever possible.

      StatisticalAnalysisDescription: Differentially expressed genes between doxorubicin-treated and untreated cells were arbitrarily defined using, as filters, a P<0.01 and fold-change cutoffs >2 or <2, for up and down regulation, respectively. The resultant signal information was analyzed using one-way analysis of variance (ANOVA, P= 0.001), assuming normality but not equal variances with a Benjamani–Hochberg correction for multiple comparisons using three groups: controls, null, and missense mutations.

      SignificanceThreshold: P=0.001

      Comment: statistical analysis and P value from previous publication.

  2. Feb 2021
    1. Supplemental material

      AssayResult: 111

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

    2. Supplemental material

      AssayResult: 69, 73

      AssayResultAssertion: Normal

      Comment: See Table S3 for details; The blood sample used to test this variant was derived from an individual carrying the variant in homozygosity.

    3. Supplemental material

      AssayResult: 100

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

    4. Supplemental material

      AssayResult: 95

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

    5. Supplemental material

      AssayResult: 80, 99

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

    6. Supplemental material

      AssayResult: 94

      AssayResultAssertion: Normal

      Comment: See Table S3 for details; This variant was reported as c.323_235del but assumed to be c.323_325del, which corresponds to the reported protein change (p.(Gly108_Phe109delinsVal)).

    7. Supplemental material

      AssayResult: 101, 106

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

    8. Supplemental material

      AssayResult: 89, 90

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

    9. Supplemental material

      AssayResult: 88

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

    10. Supplemental material

      AssayResult: 79

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

    11. Supplemental material

      AssayResult: 78

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

    12. Supplemental material

      AssayResult: 90

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

    13. Supplemental material

      AssayResult: 86

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

    14. Supplemental material

      AssayResult: 78

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

    15. Supplemental material

      AssayResult: 83

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

    16. Supplemental material

      AssayResult: 82

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

    17. Supplemental material

      AssayResult: 86

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

    18. Supplemental material

      AssayResult: 118

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

    19. Supplemental material

      AssayResult: 62

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

    20. Supplemental material

      AssayResult: 56, 52

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

    21. Supplemental material

      AssayResult: 61

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

    22. Supplemental material

      AssayResult: 101

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

    23. Supplemental material

      AssayResult: 98

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

    24. Supplemental material

      AssayResult: 102

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

    25. Supplemental material

      AssayResult: 81

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

    26. Supplemental material

      AssayResult: 96

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

    27. Supplemental material

      AssayResult: 102

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

    28. Supplemental material

      AssayResult: 105

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

    29. Supplemental material

      AssayResult: 85

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

    30. Supplemental material

      AssayResult: 88

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

    31. Supplemental material

      AssayResult: 95

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

    32. Supplemental material

      AssayResult: 99

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

    33. Supplemental material

      AssayResult: 125

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

    34. Supplemental material

      AssayResult: 115

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

    35. Supplemental material

      AssayResult: 84

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

    36. Supplemental material

      AssayResult: 75

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

    37. Supplemental material

      AssayResult: 88

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

    38. Supplemental material

      AssayResult: 79

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

    39. Supplemental material

      AssayResult: 84

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

    40. Supplemental material

      AssayResult: 91

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

    41. Supplemental material

      AssayResult: 86

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

    42. Supplemental material

      AssayResult: 102

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

    43. Supplemental material

      AssayResult: 80

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

    44. Supplemental material

      AssayResult: 90

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

    45. Supplemental material

      AssayResult: 85

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

    46. Supplemental material

      AssayResult: 90

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

    47. Supplemental material

      AssayResult: 116

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

    48. Supplemental material

      AssayResult: 103

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

    49. Supplemental material

      AssayResult: 89

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

    50. Supplemental material

      AssayResult: 96

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

    51. Supplemental material

      AssayResult: 100

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

    52. Supplemental material

      AssayResult: 122

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

    53. Supplemental material

      AssayResult: 84

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

    54. Supplemental material

      AssayResult: 97

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

    55. Supplemental material

      AssayResult: 78

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

    56. Supplemental material

      AssayResult: 79

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

    57. Supplemental material

      AssayResult: 94

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

    58. Supplemental material

      AssayResult: 98

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

    59. Supplemental material

      AssayResult: 86

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

    60. Supplemental material

      AssayResult: 78

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

    61. Supplemental material

      AssayResult: 95

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

    62. Supplemental material

      AssayResult: 89

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

    63. Supplemental material

      AssayResult: 92

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

    64. Supplemental material

      AssayResult: 95

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

    65. Supplemental material

      AssayResult: 74

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

    66. Supplemental material

      AssayResult: 83

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

    67. Supplemental material

      AssayResult: 84

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

    68. Supplemental material

      AssayResult: 95

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

    69. Supplemental material

      AssayResult: 82

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

    70. Supplemental material

      AssayResult: 100

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

    71. Supplemental material

      AssayResult: 117

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

    72. Supplemental material

      AssayResult: 86

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

    73. Supplemental material

      AssayResult: 112

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

    74. Supplemental material

      AssayResult: 87

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

    75. Supplemental material

      AssayResult: 92

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

    76. Supplemental material

      AssayResult: 84

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

    77. Supplemental material

      AssayResult: 5.5, 5.7

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details; The blood sample used to test this variant was derived from an individual carrying the variant in homozygosity.

    78. Supplemental material

      AssayResult: 52

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details; The blood sample used to test this variant was derived from an individual carrying the c.723del variant in combination with the c.*1175A>C variant in heterozygosity.