John L. Hopper
International Agency for Research on Cancer
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Publication
Featured researches published by John L. Hopper.
JCO Precision Oncology | 2018
Timothy F. Donahue; Aditya Bagrodia; F. Audenet; Mark T.A. Donoghue; Eugene K. Cha; John Sfakianos; Dahlia Sperling; Hikmat Al-Ahmadie; Mark Clendenning; Christophe Rosty; Daniel D. Buchanan; Mark Jenkins; John L. Hopper; Ingrid Winship; Allyson Templeton; Michael F. Walsh; Zsofia K. Stadler; Gopa Iyer; Barry S. Taylor; Jonathan A. Coleman; Noralane M. Lindor; David B. Solit; Bernard H. Bochner
Purpose Patients with Lynch syndrome (LS) have a significantly increased risk of developing upper-tract urothelial carcinoma (UTUC). Here, we sought to identify differences in the patterns of mutational changes in LS-associated versus sporadic UTUCs. Patients and Methods We performed targeted sequencing of 17 UTUCs from patients with documented LS-associated germline mutations (LS-UTUCs) using the Memorial Sloan Kettering Integrated Molecular Profiling of Actionable Cancer Targets targeted exon capture assay and compared the results with those from a recently characterized cohort of 82 patients with sporadic UTUC. Results Patients with LS-UTUC were significantly younger, had had less exposure to tobacco, and more often presented with a ureteral primary site compared with patients with sporadic UTUC. The median number of mutations per tumor was significantly greater in LS-UTUC tumors than in tumors from the sporadic cohort (58; interquartile range [IQR], 47-101 v 6; IQR, 4-10; P < .001), as was the MSIsensor score (median, 25.1; IQR, 17.9-31.2 v 0.03; IQR, 0-0.44; P < .001). Differences in the genetic landscape were observed between sporadic and LS-associated tumors. Alterations in KMT2D, CREBBP, or ARID1A or in DNA damage response and repair genes were present at a significantly higher frequency in LS-UTUC. CIC, NOTCH1, NOTCH3, RB1, and CDKN1B alterations were almost exclusive to LS-UTUC. Although FGFR3 mutations were identified in both cohorts, the R248C hotspot mutation was highly enriched in LS-UTUC. Conclusion LS- and sporadic UTUCs have overlapping but distinct genetic signatures. LS-UTUC is associated with hypermutation and a significantly higher prevalence of FGFR3 R248C mutation. Prospective molecular characterization of patients to identify those with LS-UTUC may help guide treatment.
Archive | 2010
Fiona ChionhLaura BagliettoKavitha Krishnan; John L. Hopper; Graham G. Giles
Archive | 2018
Kelly-Anne Phillips; Louisa Lo; Mathias Bressel; Ian M. Collins; Jon Emery; Prue Weideman; Louise Keogh; Emma Steel; Adrian Bickerstaffe; G. Bruce Mann; Alison H. Trainer; John L. Hopper; Antonis Antoniou; Jack Cuzick; Phyllis Butow
Cancer Research | 2018
Mb Terry; K-A Phillips; Mary B. Daly; Irene L. Andrulis; Yuyan Liao; X Ma; N Zeinomar; Robert J. MacInnis; Gillian S. Dite; E.M. John; Saundra S. Buys; John L. Hopper
Cancer Research | 2018
N Zeinomar; K-A Phillips; Yuyan Liao; Robert J. MacInnis; Gillian S. Dite; Mary B. Daly; E.M. John; Irene L. Andrulis; Saundra S. Buys; John L. Hopper; Mb Terry
Archive | 2017
Karoline B. Kuchenbaecker; John L. Hopper; Daniel R. Barnes; K-A Phillips; T.M. Mooij; M-J Roos-Blom; Sarah Jervis; F.E. van Leeuwen; Roger L. Milne; N. Andrieu; David E. Goldgar; Mb Terry; Matti A. Rookus; Douglas F. Easton; Antonis Antoniou
Archive | 2015
Anne E. Cust; Kristen Pickles; Chris Goumas; Thao Vu; Helen Schmid; Eduardo Nagore; John W. Kelly; Joanne F. Aitken; Graham G. Giles; John L. Hopper; Mark Jenkins; Graham J. Mann
Archive | 2013
Evelina Mocci; Roger L. Milne; Elena Yuste M; John L. Hopper; E.M. John; Irene L. Andrulis; Wendy K. Chung; Mary M. Daly; Saundra S. Buys; Núria Malats; David E. Goldgar
Archive | 2010
Zhi L Teo; Fabrice Odefrey; Daniel J. Park; Marc Tischkowitz; Nelly Sabbaghian; Graham Byrnes; Ingrid Winship; Graham G. Giles; David E. Goldgar; John L. Hopper
Archive | 2007
Graham G. Giles; Laura Baglietto; Dallas R. English; Dorota M. Gertig; John L. Hopper