Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms

  1. de la Hoya, M.
  2. Soukarieh, O.
  3. López-Perolio, I.
  4. Vega, A.
  5. Walker, L.C.
  6. van Ierland, Y.
  7. Baralle, D.
  8. Santamariña, M.
  9. Lattimore, V.
  10. Wijnen, J.
  11. Whiley, P.
  12. Blanco, A.
  13. Raponi, M.
  14. Hauke, J.
  15. Wappenschmidt, B.
  16. Becker, A.
  17. Hansen, T.V.O.
  18. Behar, R.
  19. KConFaB Investigators, null
  20. Niederacher, D.
  21. Arnold, N.
  22. Dworniczak, B.
  23. Steinemann, D.
  24. Faust, U.
  25. Rubinstein, W.
  26. Hulick, P.J.
  27. Houdayer, C.
  28. Caputo, S.M.
  29. Castera, L.
  30. Pesaran, T.
  31. Chao, E.
  32. Brewer, C.
  33. Southey, M.C.
  34. van Asperen, C.J.
  35. Singer, C.F.
  36. Sullivan, J.
  37. Poplawski, N.
  38. Mai, P.
  39. Peto, J.
  40. Johnson, N.
  41. Burwinkel, B.
  42. Surowy, H.
  43. Bojesen, S.E.
  44. Flyger, H.
  45. Lindblom, A.
  46. Margolin, S.
  47. Chang-Claude, J.
  48. Rudolph, A.
  49. Radice, P.
  50. Galastri, L.
  51. Olson, J.E.
  52. Hallberg, E.
  53. Giles, G.G.
  54. Milne, R.L.
  55. Andrulis, I.L.
  56. Glendon, G.
  57. Hall, P.
  58. Czene, K.
  59. Blows, F.
  60. Shah, M.
  61. Wang, Q.
  62. Dennis, J.
  63. Michailidou, K.
  64. McGuffog, L.
  65. Bolla, M.K.
  66. Antoniou, A.C.
  67. Easton, D.F.
  68. Couch, F.J.
  69. Tavtigian, S.
  70. Vreeswijk, M.P.
  71. Parsons, M.
  72. Meeks, H.D.
  73. Martins, A.
  74. Goldgar, D.E.
  75. Spurdle, A.B.
  76. Show all authors +
Journal:
Human Molecular Genetics

ISSN: 1460-2083,  0964-6906

Year of publication: 2016

Volume: 25

Issue: 11

Pages: 2256-2268

Type: Article

DOI: 10.1093/HMG/DDW094 GOOGLE SCHOLAR lock_openOpen access editor
Data source: Scopus