Exome sequencing identifies frequent inactivating mutations in BAP1, ARID1A and PBRM1 in intrahepatic cholangiocarcinomas (original) (raw)

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Acknowledgements

The authors wish to acknowledge the following funding sources: the Virginia and D.K. Ludwig Fund for Cancer Research; the Lustgarten Foundation for Pancreatic Cancer Research; US National Institutes of Health (NIH) grants P50 CA62924, K08DK090154 and EDRN U01CA086402; Associazione Italiana Ricerca Cancro (AIRC grants 12182, 11930, 6421 and IG 12214); and Italian Cancer Genome Project FIRB RBAP10AHJB.

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Author notes

1. Yuchen Jiao, Timothy M Pawlik and Robert A Anders: These authors contributed equally to this work.

Authors and Affiliations

1. The Ludwig Center, Johns Hopkins University, Baltimore, Maryland, USA
   Yuchen Jiao, Victor E Velculescu, Bert Vogelstein, Kenneth W Kinzler & Nickolas Papadopoulos
2. Howard Hughes Medical Institute, Johns Hopkins University, Baltimore, Maryland, USA
   Yuchen Jiao, Victor E Velculescu, Bert Vogelstein, Kenneth W Kinzler & Nickolas Papadopoulos
3. Sidney Kimmel Comprehensive Cancer Center, Baltimore, Maryland, USA
   Yuchen Jiao, Timothy M Pawlik, Robert A Anders, Anirban Maitra, Pedram Argani, Victor E Velculescu, Ralph H Hruban, Bert Vogelstein, Kenneth W Kinzler & Nickolas Papadopoulos
4. Department of Surgery, Johns Hopkins University, Baltimore, Maryland, USA
   Timothy M Pawlik
5. Department of Pathology, Johns Hopkins University, Baltimore, Maryland, USA
   Robert A Anders, Mirte M Streppel, Anirban Maitra, Pedram Argani, Ralph H Hruban & Laura D Wood
6. Department of Gastroenterology and Hepatology, Johns Hopkins University, Baltimore, Maryland, USA
   Florin M Selaru
7. Department of Surgery, Walter Reed National Military Medical Center, Bethesda, Maryland, USA
   Donald J Lucas
8. Department of Biomedical Engineering, Institute for Computational Medicine, Johns Hopkins University, Baltimore, Maryland, USA
   Noushin Niknafs, Violeta Beleva Guthrie & Rachel Karchin
9. Department of Pathology, University Medical Center, Utrecht, The Netherlands
   G Johan A Offerhaus
10. Department of Pathology, Universidad de La Frontera, Temuco, Chile
    Juan Carlos Roa
11. Division of Gastroenterology and Hepatology, Mayo Clinic, Rochester, Minnesota, USA
    Lewis R Roberts & Gregory J Gores
12. Dan Setlacec Center of General Surgery and Liver Transplantation, Fundeni Clinical Institute, Bucharest, Romania
    Irinel Popescu, Sorin T Alexandrescu & Simona Dima
13. Applied Research on Cancer Network, Miriam Cherubini Research Centre, University of Verona, Verona, Italy
    Matteo Fassan, Michele Simbolo, Andrea Mafficini, Rita T Lawlor & Aldo Scarpa
14. Department of Pathology and Diagnostics, University of Verona, Verona, Italy
    Matteo Fassan, Michele Simbolo, Paola Capelli, Rita T Lawlor & Aldo Scarpa
15. Department of Surgery, University of Verona, Verona, Italy
    Andrea Ruzzenente & Alfredo Guglielmi
16. Department of Medicine, Medical Oncology Unit, University of Verona, Verona, Italy
    Giampaolo Tortora
17. Medical Oncology Unit 1, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico, Istituto Nazionale dei Tumori, Milan, Italy
    Filippo de Braud
18. Department of Surgery, Memorial Sloan-Kettering Cancer Center, New York, New York, USA
    William Jarnagin
19. Department of Pathology, Memorial Sloan-Kettering Cancer Center, New York, New York, USA
    David Klimstra

Authors

1. Yuchen Jiao
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2. Timothy M Pawlik
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3. Robert A Anders
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4. Florin M Selaru
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5. Mirte M Streppel
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6. Donald J Lucas
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7. Noushin Niknafs
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8. Violeta Beleva Guthrie
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9. Anirban Maitra
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10. Pedram Argani
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11. G Johan A Offerhaus
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12. Juan Carlos Roa
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13. Lewis R Roberts
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14. Gregory J Gores
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15. Irinel Popescu
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16. Sorin T Alexandrescu
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17. Simona Dima
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18. Matteo Fassan
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19. Michele Simbolo
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20. Andrea Mafficini
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21. Paola Capelli
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22. Rita T Lawlor
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23. Andrea Ruzzenente
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24. Alfredo Guglielmi
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25. Giampaolo Tortora
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26. Filippo de Braud
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27. Aldo Scarpa
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28. William Jarnagin
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29. David Klimstra
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30. Rachel Karchin
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31. Victor E Velculescu
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32. Ralph H Hruban
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33. Bert Vogelstein
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34. Kenneth W Kinzler
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35. Nickolas Papadopoulos
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36. Laura D Wood
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Contributions

T.M.P., R.A.A., A.S., R.K., V.E.V., R.H.H., B.V., K.W.K., N.P. and L.D.W. jointly supervised research. Y.J., F.M.S., A. Maitra, M.F., M.S., A. Mafficini, P.C., R.T.L., A.R., A.G., G.T., F.d.B., A.S., R.K., V.E.V., R.H.H., B.V., K.W.K., N.P. and L.D.W. conceived and designed experiments. Y.J., M.M.S., A. Maitra, G.J.A.O., J.C.R., L.R.R., G.J.G., I.P., S.T.A., S.D., M.F., M.S., A. Mafficini, P.C., R.T.L., A.R., A.G., G.T., F.d.B., A.S., D.K., B.V., K.W.K., N.P. and L.D.W. performed experiments. T.M.P., R.A.A., D.J.L., N.N., V.B.G., R.K., K.W.K., N.P. and L.D.W. performed statistical analysis. Y.J., T.M.P., R.A.A., D.J.L., N.N., V.B.G., M.F., M.S., A. Mafficini, P.C., R.T.L., A.R., A.G., G.T., F.d.B., A.S., W.J., D.K., R.K., R.H.H., B.V., K.W.K., N.P. and L.D.W. analyzed data. F.M.S., M.M.S., A. Maitra, P.A., G.J.A.O., J.C.R., L.R.R., G.J.G., I.P., S.T.A., S.D., M.F., M.S., A. Mafficini, P.C., R.T.L., A.R., A.G., G.T., F.d.B., A.S., W.J., D.K., R.K., V.E.V., R.H.H., B.V., K.W.K., N.P. and L.D.W. contributed reagents, materials or analysis tools. Y.J., T.M.P., R.A.A., F.M.S., A. Maitra, D.K., R.H.H., B.V., K.W.K., N.P. and L.D.W. wrote the manuscript.

Corresponding authors

Correspondence toAldo Scarpa, Kenneth W Kinzler, Nickolas Papadopoulos or Laura D Wood.

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Competing interests

Under agreements between Johns Hopkins University, Genzyme, Myriad Genetics, Exact Sciences, Inostics, Qiagen, Invitrogen and Personal Genome Diagnostics, V.E.V., N.P., B.V., K.W.K. and R.H.H. are entitled to a share of the royalties received by Johns Hopkins University on sales of products related to genes and technologies described in this manuscript. V.E.V., N.P., B.V. and K.W.K. are cofounders of Inostics and Personal Genome Diagnostics, are members of their scientific advisory boards and own Inostics and Personal Genome Diagnostics stock, which is subject to certain restrictions under Johns Hopkins University policy. L.D.W. is a paid consultant for Personal Genome Diagnostics. The contribution of D.J.L. to this manuscript represents his own views and not the official policy of the US Navy, US Department of Defense or US government.

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Jiao, Y., Pawlik, T., Anders, R. et al. Exome sequencing identifies frequent inactivating mutations in BAP1, ARID1A and PBRM1 in intrahepatic cholangiocarcinomas.Nat Genet 45, 1470–1473 (2013). https://doi.org/10.1038/ng.2813

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• Received: 03 July 2013
• Accepted: 07 October 2013
• Published: 03 November 2013
• Issue Date: December 2013
• DOI: https://doi.org/10.1038/ng.2813