242 Matching Annotations
  1. Last 7 days
    1. We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.

      HGVS: NM_000546.5:c.844C>T p.(Arg282Trp)

    2. We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.

      HGVS: NM_000546.5:c.736A>G p.(Met246Val)

    3. We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.

      HGVS: NM_000546.5:c.638G>A p.(Arg213Gln)

    4. We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.

      HGVS: NM_000546.5:c.535C>T p.(His179Tyr)

    5. We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.

      HGVS: NM000546.5:c.(?-202)(29+1-28+1)del p.?

      Comment: A CAID could not be generated for this deletion variant with uncertain breakpoints.

    6. 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.

    7. Supplemental material

      AssayResult: 100

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

    8. Supplemental material

      AssayResult: 95

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

    9. Supplemental material

      AssayResult: 80, 99

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

    10. 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)).

    11. Supplemental material

      AssayResult: 101, 106

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

    12. Supplemental material

      AssayResult: 89, 90

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

    13. Supplemental material

      AssayResult: 88

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

    14. Supplemental material

      AssayResult: 79

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

    15. Supplemental material

      AssayResult: 78

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

    16. Supplemental material

      AssayResult: 90

      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: 78

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

    19. Supplemental material

      AssayResult: 83

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

    20. Supplemental material

      AssayResult: 82

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

    21. Supplemental material

      AssayResult: 86

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

    22. Supplemental material

      AssayResult: 118

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

    23. Supplemental material

      AssayResult: 62

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

    24. Supplemental material

      AssayResult: 56, 52

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

    25. Supplemental material

      AssayResult: 61

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

    26. Supplemental material

      AssayResult: 101

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

    27. Supplemental material

      AssayResult: 98

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

    28. Supplemental material

      AssayResult: 102

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

    29. Supplemental material

      AssayResult: 81

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

    30. Supplemental material

      AssayResult: 96

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

    31. We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.

      HGVS: NM_000546.5:c.761T>C p.(Ile254Thr)

    32. Supplemental material

      AssayResult: 6.4

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

    33. Supplemental material

      AssayResult: 3.1

      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.

    34. 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.

    35. Supplemental material

      AssayResult: 20.5

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

    36. Supplemental material

      AssayResult: 3.4

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

    37. Supplemental material

      AssayResult: 2.6, 4.8

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

    38. Supplemental material

      AssayResult: 3.8

      AssayResultAssertion: Abnormal

      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)).

    39. Supplemental material

      AssayResult: 4, 5

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

    40. Supplemental material

      AssayResult: 5.8, 6.1

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

    41. Supplemental material

      AssayResult: 5.3

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

    42. Supplemental material

      AssayResult: 5.1

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

    43. Supplemental material

      AssayResult: 17.1

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

    44. Supplemental material

      AssayResult: 3.2

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

    45. Supplemental material

      AssayResult: 3.5

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

    46. Supplemental material

      AssayResult: 4.1

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

    47. Supplemental material

      AssayResult: 2.9

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

    48. Supplemental material

      AssayResult: 6.1

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

    49. Supplemental material

      AssayResult: 12.9

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

    50. Supplemental material

      AssayResult: 4.7

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

    51. Supplemental material

      AssayResult: 7.1, 6.0

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

    52. Supplemental material

      AssayResult: 3.1

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

    53. Supplemental material

      AssayResult: 5.4

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

    54. Supplemental material

      AssayResult: 5

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

    55. Supplemental material

      AssayResult: 4.8

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

    56. Supplemental material

      AssayResult: 3.8

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

    57. Supplemental material

      AssayResult: 3.2

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

    58. Supplemental material

      AssayResult: 82

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    59. Supplemental material

      AssayResult: 80

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    60. Supplemental material

      AssayResult: 69

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    61. Supplemental material

      AssayResult: 99

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    62. Supplemental material

      AssayResult: 98

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    63. Supplemental material

      AssayResult: 77

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    64. Supplemental material

      AssayResult: 105

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    65. Supplemental material

      AssayResult: 96

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    66. Supplemental material

      AssayResult: 104

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    67. Supplemental material

      AssayResult: 99

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    68. Supplemental material

      AssayResult: 83

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    69. Supplemental material

      AssayResult: 91

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    70. Supplemental material

      AssayResult: 86

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    71. Supplemental material

      AssayResult: 56

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    72. Supplemental material

      AssayResult: 61

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    73. Supplemental material

      AssayResult: 51

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    74. Supplemental material

      AssayResult: 66

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    75. Supplemental material

      AssayResult: 60

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    76. Supplemental material

      AssayResult: 65

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    77. Supplemental material

      AssayResult: 66

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    78. Supplemental material

      AssayResult: 45

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    79. Supplemental material

      AssayResult: 58

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    80. Supplemental material

      AssayResult: 49

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    81. Supplemental material

      AssayResult: 83

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    82. Supplemental material

      AssayResult: 84

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    83. Supplemental material

      AssayResult: 91

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    84. Supplemental material

      AssayResult: 94

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    85. Supplemental material

      AssayResult: 97

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    86. Supplemental material

      AssayResult: 98

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    87. Supplemental material

      AssayResult: 96

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    88. Supplemental material

      AssayResult: 105

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    89. Supplemental material

      AssayResult: 6.4

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    90. Supplemental material

      AssayResult: 6.8

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    91. Supplemental material

      AssayResult: 7.1

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    92. Supplemental material

      AssayResult: 7.7

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    93. We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.

      HGVS: NM_000546.5:c.572C>G p.(Pro191Arg)

    94. Supplemental material

      AssayResult: 3.5

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    95. Supplemental material

      AssayResult: 3.1

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    96. Supplemental material

      AssayResult: 5

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    97. Supplemental material

      AssayResult: 4.4

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    98. Supplemental material

      AssayResult: 4.2

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    99. Supplemental material

      AssayResult: 4.1

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    100. Supplemental material

      AssayResult: 3.5

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    101. Supplemental material

      AssayResult: 4.9

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    102. Supplemental material

      AssayResult: 5.4

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    103. Supplemental material

      AssayResult: 6.7

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    104. Supplemental material

      AssayResult: 10.8

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    105. Supplemental material

      AssayResult: 4.9

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    106. Supplemental material

      AssayResult: 4.9

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    107. Supplemental material

      AssayResult: 8.6

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    108. Supplemental material

      AssayResult: 4

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    109. Supplemental material

      AssayResult: 6

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    110. Supplemental material

      AssayResult: 5.4

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    111. Supplemental material

      AssayResult: 5.8

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    112. Supplemental material

      AssayResult: 7.1

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    113. Supplemental material

      AssayResult: 5.5

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    114. Supplemental material

      AssayResult: 2.8

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    115. Supplemental material

      AssayResult: 2

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    116. Supplemental material

      AssayResult: 2.8

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    117. Supplemental material

      AssayResult: 3.1

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    118. Supplemental material

      AssayResult: 5.6

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    119. Supplemental material

      AssayResult: 3.5

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    120. Supplemental material

      AssayResult: 5.8

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    121. We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.

      HGVS: NM_000546.5:c.*1175A>C

    122. We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.

      HGVS: NM_000546.5:c.-117G>T

    123. We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.

      HGVS: NM_000546.5:c.792_794del p.(Leu265del)

    124. We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.

      HGVS: NM_000546.5:c.393_395del p.(Asn131del)

    125. We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.

      HGVS: NM_000546.5:c.323_325del p.(Gly108_Phe109delinsVal)

    126. We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.

      HGVS: NM_000546.5:c.1054G>T p.(Asp352Tyr)

    127. We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.

      HGVS: NM_000546.5:c.1043T>C p.(Leu348Ser)

    128. We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.

      HGVS: NM_000546.5:c.847C>T p.(Arg283Cys)

    129. We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.

      HGVS: NM_000546.5:c.833C>G p.(Pro278Arg)

    130. We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.

      HGVS: NM_000546.5:c.329G>A p.(Arg110His)

    131. We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.

      HGVS: NM_000546.5:c.472C>T p.(Arg158Cys)

    132. We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.

      HGVS: NM_000546.5:c.402T>G p.(Phe134Leu)

    133. We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.

      HGVS: NM_000546.5:c.723del p.(Cys242Alafs*5)

    134. We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.

      HGVS: NM_000546.5:c.314G>A p.(Gly105Asp)

    135. We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.

      HGVS: NM_000546.5:c.215C>A p.(Pro72His)

    136. We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.

      HGVS: NM_000546.5:c.704A>G p.(Asn235Ser)

    137. We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.

      HGVS: NM_000546.5:c.770del p.(Leu257Argfs*88)

    138. We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.

      HGVS: NM_000546.5:c.375G>A p.?

    139. We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.

      HGVS: NM_000546.5:c.542G>A p.(Arg181His)

    140. We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.

      HGVS: NM_000546.5:c.1010G>A p.(Arg337His)

    141. We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.

      HGVS: NM_000546.5:c.910A>G p.(Thr304Ala)

    142. We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.

      HGVS: NM_000546.5:c.904G>A p.(Gly302Arg)

    143. We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.

      HGVS: NM_000546.5:c.455del p.(Pro152Argfs*18)

    144. We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.

      HGVS: NM_000546.5:c.869G>A p.(Arg290His)

    145. We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.

      HGVS: NM_000546.5:c.845G>C p.(Arg282Pro)

    146. We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.

      HGVS: NM_000546.5:c.685T>C p.(Cys229Arg)

    147. We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.

      HGVS: NM_000546.5:c.646G>A p.(Val216Met)

    148. We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.

      HGVS: NM_000546.5:c.578A>C p.(His193Pro)

    149. We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.

      HGVS: NM_000546.5:c.577C>G p.(His193Asp)

    150. We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.

      HGVS: NM_000546.5:c.523C>G p.(Arg175Gly)

    151. We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.

      HGVS: NM_000546.5:c.323G>A p.(Gly108Asp)

    152. We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.

      HGVS: NM_000546.5:c.31G>C p.(Glu11Gln)

    153. We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.

      HGVS: NM_000546.5:c.820del p.(Val274Phefs*71)

    154. We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.

      HGVS: NM_000546.5:c.690del p.(Thr231Profs*16)

    155. We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.

      HGVS: NM_000546.5:c.673-2A>G p.?

    156. We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.

      HGVS: NM_000546.5:c.632_641del p.(Thr211Ilefs*33)

    157. We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.

      HGVS: NM_000546.5:c.491_494del p.(Lys164Serfs*5)

    158. We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.

      HGVS: NM_000546.5:c.742C>T p.(Arg248Trp)

    159. We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.

      HGVS: NM_000546.5:c.323_329dup p.(Leu111Phefs*40)

    160. We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.

      HGVS: NM_000546.5:c.216dup p.(Val73Argfs*76)

    161. We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.

      HGVS: NM_000546.5:c.818G>A p.(Arg273His)

    162. We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.

      HGVS: NM_000546.5:c.743G>A p.(Arg248Gln)

    163. We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.

      HGVS: NM_000546.5:c.524G>A p.(Arg175His)

    164. 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.

    165. We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.

      HGVS: NM000546.5:c.(?-202)(*1207?)del p.?

      Comment: A CAID could not be generated for this deletion variant with uncertain breakpoints.

    Tags

    Annotators

    URL

  2. Feb 2021
    1. Emary, K. R. W., Golubchik, T., Aley, P. K., Ariani, C. V., Angus, B. J., Bibi, S., Blane, B., Bonsall, D., Cicconi, P., Charlton, S., Clutterbuck, E., Collins, A. M., Cox, T., Darton, T., Dold, C., Douglas, A. D., Duncan, C. J. A., Ewer, K., Flaxman, A., … Group, O. C. V. T. (2021). Efficacy of ChAdOx1 nCoV-19 (AZD1222) Vaccine Against SARS-CoV-2 VOC 202012/01 (B.1.1.7) (SSRN Scholarly Paper ID 3779160). Social Science Research Network. https://doi.org/10.2139/ssrn.3779160

    1. Eric Topol. (2021, February 17). New reports @NEJM today confirming some immune evasion of the B.1.351 variant (identified in South Africa) to both the mRNA vaccines, in vitro data @BioNTech_Group/@Pfizer and @moderna_tx. Less vaccine efficacy vs B.1.351 has been confirmed in clinical trials for 3 vaccines https://t.co/2N7eKDllso [Tweet]. @EricTopol. https://twitter.com/EricTopol/status/1362160675913568256

    1. Hodcroft, E. B., Domman, D. B., Oguntuyo, K., Snyder, D. J., Diest, M. V., Densmore, K. H., Schwalm, K. C., Femling, J., Carroll, J. L., Scott, R. S., Whyte, M. M., Edwards, M. D., Hull, N. C., Kevil, C. G., Vanchiere, J. A., Lee, B., Dinwiddie, D. L., Cooper, V. S., & Kamil, J. P. (2021). Emergence in late 2020 of multiple lineages of SARS-CoV-2 Spike protein variants affecting amino acid position 677. MedRxiv, 2021.02.12.21251658. https://doi.org/10.1101/2021.02.12.21251658

    1. Alan McNally 💙. (2021, February 5). Our latest lab data for B.1.1.7 prevalence in Pillar 2 samples, as determined by SGTF. Clearly now plateauing at 80-90%. Which to me suggests there are other lineages as transmissible as B.1.1.7......... Https://t.co/toA0GyVsZz [Tweet]. @alanmcn1. https://twitter.com/alanmcn1/status/1357701944027004929

    1. Shen, X., Tang, H., McDanal, C., Wagh, K., Fischer, W. M., Theiler, J., Yoon, H., Li, D., Haynes, B. F., Saunders, K. O., Gnanakaran, S., Hengartner, N. W., Pajon, R., Smith, G., Dubovsky, F., Glenn, G. M., Korber, B. T., & Montefiori, D. C. (2021). SARS-CoV-2 Variant B.1.1.7 is Susceptible to Neutralizing Antibodies Elicited by Ancestral Spike Vaccines (SSRN Scholarly Paper ID 3777473). Social Science Research Network. https://papers.ssrn.com/abstract=3777473

    1. En cas de survenue d’un cas confirmé portant la variante britannique du SARS-CoV-2Conformément à l’avis du Conseil Scientifique, la confirmation d’un cas de variante britannique du virus SARS-CoV2 dans une classe doit conduire à la fermeture de la classe, dans les établissements d’enseignement du premier degré et du second degré. Les élèves de la classe sont donc assimilés à des contacts à risque. L’identification des contacts à risque parmi les personnels se fait dans les conditions décrites selon les règles définies par Santé publique France