Display options
Share it on

Cancers (Basel). 2021 May 07;13(9). doi: 10.3390/cancers13092243.

The PI3K/mTOR Pathway Is Targeted by Rare Germline Variants in Patients with Both Melanoma and Renal Cell Carcinoma.

Cancers

Jean-Noël Hubert, Voreak Suybeng, Maxime Vallée, Tiffany M Delhomme, Eve Maubec, Anne Boland, Delphine Bacq, Jean-François Deleuze, Fanélie Jouenne, Paul Brennan, James D McKay, Marie-Françoise Avril, Brigitte Bressac-de Paillerets, Estelle Chanudet

Affiliations

  1. Section of Genetics, International Agency for Research on Cancer (IARC-WHO), 69372 Lyon, France.
  2. Gustave Roussy, Département de Biopathologie, 94805 Villejuif, France.
  3. Department of Dermatology, AP-HP, Hôpital Avicenne, University Paris 13, 93000 Bobigny, France.
  4. UMRS-1124, Campus Paris Saint-Germain-des-Prés, University of Paris, 75006 Paris, France.
  5. Centre National de Recherche en Génomique Humaine, Université Paris-Saclay, CEA, 91057 Evry, France.
  6. Association Robert Debré pour la Recherche Médicale, 75006 Paris, France.
  7. INSERM U1279, Tumor Cell Dynamics, 94805 Villejuif, France.

PMID: 34067022 PMCID: PMC8125037 DOI: 10.3390/cancers13092243

[No abstract available.]

Keywords: WES; genetic susceptibility; melanoma; rare variants enrichment; renal cell carcinoma

References

  1. Bioinformatics. 2009 Jul 15;25(14):1754-60 - PubMed
  2. J Clin Invest. 2019 Feb 1;129(2):452-464 - PubMed
  3. Photochem Photobiol. 2015 Jan-Feb;91(1):188-200 - PubMed
  4. Thyroid. 2019 Jul;29(7):946-955 - PubMed
  5. PLoS Genet. 2018 Oct 16;14(10):e1007591 - PubMed
  6. Br J Cancer. 2008 Jul 22;99(2):364-70 - PubMed
  7. World J Urol. 2018 Dec;36(12):1891-1898 - PubMed
  8. Am J Med Genet C Semin Med Genet. 2016 Dec;172(4):402-421 - PubMed
  9. J Cancer. 2019 May 14;10(9):2109-2127 - PubMed
  10. Cancer Causes Control. 2013 Nov;24(11):1925-33 - PubMed
  11. Cell Cycle. 2006 Jun;5(12):1258-61 - PubMed
  12. Carcinogenesis. 2018 Sep 21;39(9):1135-1140 - PubMed
  13. Oncotarget. 2017 Aug 3;8(42):72513-72527 - PubMed
  14. J Cancer. 2020 Mar 5;11(11):3349-3356 - PubMed
  15. PLoS Genet. 2017 Dec 14;13(12):e1007093 - PubMed
  16. Acta Physiol Scand. 2003 Nov;179(3):233-41 - PubMed
  17. Eur Urol. 2019 Dec;76(6):754-764 - PubMed
  18. Nucleic Acids Res. 2019 Jan 8;47(D1):D590-D595 - PubMed
  19. Cancer Res. 2003 Jun 1;63(11):2881-90 - PubMed
  20. Cancer Res. 2017 Nov 1;77(21):e31-e34 - PubMed
  21. EBioMedicine. 2018 Jun;32:93-101 - PubMed
  22. Transl Psychiatry. 2018 Dec 5;8(1):268 - PubMed
  23. Sci Rep. 2020 Jun 18;10(1):9909 - PubMed
  24. Nat Commun. 2018 Sep 14;9(1):3753 - PubMed
  25. Hum Mol Genet. 2014 Nov 15;23(22):6112-8 - PubMed
  26. Nat Rev Nephrol. 2016 Nov;12(11):655-666 - PubMed
  27. Urology. 2021 Mar;149:89-97 - PubMed
  28. Mol Biol Rep. 2020 Jun;47(6):4587-4629 - PubMed
  29. Nature. 2020 May;581(7809):434-443 - PubMed
  30. PLoS One. 2019 Apr 29;14(4):e0215725 - PubMed
  31. Endocr Relat Cancer. 2017 Sep;24(9):T33-T46 - PubMed
  32. Trends Genet. 2010 Mar;26(3):132-41 - PubMed
  33. Gigascience. 2015 Feb 25;4:7 - PubMed
  34. Melanoma Res. 2017 Dec;27(6):558-564 - PubMed
  35. Nat Rev Cancer. 2016 Sep;16(9):599-612 - PubMed
  36. J Cell Biol. 2003 Feb 3;160(3):341-53 - PubMed
  37. Nucleic Acids Res. 2019 Jul 2;47(W1):W191-W198 - PubMed
  38. Nat Genet. 2014 Aug;46(8):912-918 - PubMed
  39. Int J Epidemiol. 2020 Aug 1;49(4):1236-1245 - PubMed
  40. J Natl Cancer Inst. 2017 Aug 1;109(8): - PubMed
  41. Hum Hered. 2013;76(1):28-35 - PubMed
  42. CA Cancer J Clin. 2019 Jan;69(1):7-34 - PubMed
  43. Clin Cancer Res. 2012 Jan 15;18(2):400-7 - PubMed
  44. Genes Chromosomes Cancer. 2021 Jan;60(1):5-16 - PubMed
  45. Nat Rev Nephrol. 2011 Dec 06;8(2):122-8 - PubMed
  46. Int J Mol Sci. 2020 Oct 31;21(21): - PubMed
  47. Nature. 2016 Aug 17;536(7616):285-91 - PubMed
  48. Cancer Treat Rev. 2020 Nov;90:102091 - PubMed
  49. J Cell Sci. 2012 Jan 1;125(Pt 1):19-28 - PubMed
  50. JAMA Dermatol. 2018 Jul 1;154(7):789-795 - PubMed
  51. Nucleic Acids Res. 2010 Sep;38(16):e164 - PubMed
  52. Int J Oncol. 2018 Apr;52(4):1071-1080 - PubMed
  53. J Natl Cancer Inst. 2014 Dec 13;107(2): - PubMed
  54. Pathobiology. 2016;83(4):165-9 - PubMed
  55. Cancer. 2010 Dec 15;116(24):5716-24 - PubMed
  56. Biochem Soc Trans. 2008 Oct;36(Pt 5):874-8 - PubMed
  57. Cell Rep. 2018 Apr 3;23(1):313-326.e5 - PubMed
  58. Nucleic Acids Res. 2021 Jan 8;49(D1):D613-D621 - PubMed
  59. Gene. 2018 Jan 15;640:28-42 - PubMed
  60. Int J Cancer. 2019 May 15;144(10):2453-2464 - PubMed
  61. Genet Med. 2015 May;17(5):405-24 - PubMed
  62. J Med Genet. 2016 Jan;53(1):1-14 - PubMed
  63. Nat Commun. 2018 Dec 10;9(1):5271 - PubMed
  64. Nat Genet. 2011 May;43(5):491-8 - PubMed
  65. Hum Mutat. 2007 May;28(5):495-505 - PubMed
  66. Cell Stem Cell. 2018 Apr 5;22(4):473-474 - PubMed
  67. Eur J Cancer Prev. 2020 Nov;29(6):511-519 - PubMed
  68. J Natl Cancer Inst. 2017 Dec 1;109(12): - PubMed
  69. J Clin Oncol. 2018 Oct 29;:JCO2018791905 - PubMed
  70. Nat Genet. 2012 May 29;44(6):623-30 - PubMed
  71. Ther Adv Med Oncol. 2018 Jun 12;10:1758835918777427 - PubMed
  72. J Clin Invest. 2019 Feb 1;129(2):442-451 - PubMed
  73. JAMA Dermatol. 2016 Apr;152(4):405-12 - PubMed
  74. Cancer Genet. 2014 Apr;207(4):128-32 - PubMed
  75. Ital J Pediatr. 2015 Jan 20;41:4 - PubMed
  76. Cancer Res. 2019 May 15;79(10):2649-2661 - PubMed
  77. Am J Hum Genet. 2005 May;76(5):887-93 - PubMed
  78. Cancers (Basel). 2019 Aug 04;11(8): - PubMed
  79. DNA Cell Biol. 2017 Mar;36(3):237-242 - PubMed
  80. Cell. 2018 Apr 5;173(2):355-370.e14 - PubMed
  81. Biochim Biophys Acta Mol Basis Dis. 2017 Oct;1863(10 Pt A):2448-2461 - PubMed
  82. J Natl Cancer Inst. 2018 Dec 1;110(12):1328-1341 - PubMed
  83. Fly (Austin). 2012 Apr-Jun;6(2):80-92 - PubMed
  84. Cancer Discov. 2015 Jul;5(7):723-9 - PubMed
  85. Nucleic Acids Res. 2019 Jan 8;47(D1):D886-D894 - PubMed
  86. Int J Mol Sci. 2012;13(2):1886-918 - PubMed
  87. Nat Commun. 2016 Jul 12;7:12064 - PubMed
  88. Nat Biotechnol. 2017 Apr 11;35(4):316-319 - PubMed
  89. Cancer. 1998 Oct 15;83(8):1664-78 - PubMed
  90. Cancers (Basel). 2020 Apr 19;12(4): - PubMed
  91. Cancer Epidemiol Biomarkers Prev. 2020 Aug;29(8):1519-1534 - PubMed
  92. Pigment Cell Melanoma Res. 2017 May;30(3):294-306 - PubMed
  93. Nature. 2011 Nov 13;480(7375):99-103 - PubMed
  94. J Exp Biol. 2020 Jul 3;223(Pt 13): - PubMed
  95. Proc Natl Acad Sci U S A. 1996 Nov 12;93(23):12969-73 - PubMed
  96. Nat Genet. 2005 Jan;37(1):19-24 - PubMed
  97. Br J Dermatol. 2018 Feb;178(2):e132-e133 - PubMed
  98. Curr Protoc Bioinformatics. 2013;43:11.10.1-11.10.33 - PubMed
  99. J Genet Genomics. 2015 Jul 20;42(7):343-53 - PubMed
  100. Orphanet J Rare Dis. 2020 Jan 21;15(1):23 - PubMed
  101. Arch Dermatol. 2010 Nov;146(11):1316-8 - PubMed
  102. Eur Urol. 2017 Nov;72(5):747-754 - PubMed
  103. Cells. 2019 Jul 31;8(8): - PubMed
  104. Mol Cell. 2013 Aug 22;51(4):409-22 - PubMed
  105. Leukemia. 2016 Nov;30(11):2179-2186 - PubMed
  106. CA Cancer J Clin. 2018 Nov;68(6):394-424 - PubMed
  107. Int J Cancer. 2011 Oct 1;129(7):1730-40 - PubMed
  108. Nature. 2011 Oct 19;480(7375):94-8 - PubMed
  109. Genes Dev. 2019 Aug 1;33(15-16):983-1007 - PubMed
  110. Biomed Res Int. 2015;2015:860405 - PubMed
  111. Bioinformatics. 2015 Jun 15;31(12):2032-4 - PubMed
  112. Nucleic Acids Res. 2018 Jan 4;46(D1):D1062-D1067 - PubMed
  113. Thyroid. 2020 Feb;30(2):204-213 - PubMed
  114. Nat Commun. 2017 Jun 09;8:15724 - PubMed

Publication Types

Grant support