M
Mitchell S. Stark
Researcher at University of Queensland
Publications - 92
Citations - 7926
Mitchell S. Stark is an academic researcher from University of Queensland. The author has contributed to research in topics: Melanoma & CDKN2A. The author has an hindex of 36, co-authored 83 publications receiving 7226 citations. Previous affiliations of Mitchell S. Stark include Queensland University of Technology & QIMR Berghofer Medical Research Institute.
Papers
More filters
Journal ArticleDOI
High frequency of BRAF mutations in nevi.
Pamela M. Pollock,Ursula Harper,Katherine S. Hansen,Laura M. Yudt,Mitchell S. Stark,Christiane M. Robbins,Tracy Moses,Galen Hostetter,Urs Wagner,John W. Kakareka,Ghadi Salem,Tom Pohida,Peter J. Heenan,Paul H. Duray,Olli Kallioniemi,Nicholas K. Hayward,Jeffrey M. Trent,Paul S. Meltzer +17 more
TL;DR: In this article, the authors evaluated the timing of mutations in BRAF during melanocytic neoplasia and found that mutations resulted in the V599E amino acid substitution in 41 of 60 (68%) melanoma metastases, 4 of 5 (80%) primary melanomas and, unexpectedly, in 63 of 77 (82%) nevi.
Journal ArticleDOI
A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma
Satoru Yokoyama,Susan L. Woods,Glen M. Boyle,Lauren G. Aoude,Stuart MacGregor,Victoria Zismann,Michael Gartside,Anne E. Cust,Rizwan Haq,Mark Harland,John C. Taylor,David L. Duffy,Kelly Holohan,Ken Dutton-Regester,Jane M. Palmer,Vanessa F. Bonazzi,Mitchell S. Stark,Judith Symmons,Matthew Law,Christopher W. Schmidt,Cathy Lanagan,Linda O'Connor,Elizabeth A. Holland,Helen Schmid,Judith A. Maskiell,Jodie Jetann,Megan Ferguson,Mark A. Jenkins,Richard F. Kefford,Graham G. Giles,Bruce K. Armstrong,Joanne F. Aitken,John L. Hopper,David C. Whiteman,Paul D.P. Pharoah,Douglas F. Easton,Alison M. Dunning,Julia Newton-Bishop,Grant W. Montgomery,Nicholas G. Martin,Graham J. Mann,D. Timothy Bishop,Hensin Tsao,Jeffrey M. Trent,David E. Fisher,Nicholas K. Hayward,Kevin M. Brown,Kevin M. Brown +47 more
TL;DR: Functional analysis of E318K showed that MITF encoded by the variant allele had impaired sumoylation and differentially regulated several MITF targets, indicating thatMITF is a melanoma-predisposition gene and highlight the utility of whole-genome sequencing to identify novel rare variants associated with disease susceptibility.
Journal ArticleDOI
High-risk Melanoma Susceptibility Genes and Pancreatic Cancer, Neural System Tumors, and Uveal Melanoma across GenoMEL
Alisa M. Goldstein,May Chan,Mark Harland,Elizabeth M. Gillanders,Nicholas K. Hayward,Marie-Françoise Avril,Esther Azizi,Giovanna Bianchi-Scarrà,D. Timothy Bishop,Brigitte Bressac-de Paillerets,William Bruno,Donato Calista,Lisa A. Cannon Albright,Florence Demenais,David E. Elder,Paola Ghiorzo,Nelleke A. Gruis,Johan Hansson,David W. Hogg,Elizabeth A. Holland,Peter A. Kanetsky,Richard F. Kefford,Maria Teresa Landi,Julie Lang,Sancy A. Leachman,Rona M. MacKie,Veronica Magnusson,Graham J. Mann,Kristin B. Niendorf,Julia A. Newton Bishop,Jane M. Palmer,Susana Puig,Joan Anton Puig-Butille,Femke A. de Snoo,Mitchell S. Stark,Hensin Tsao,Margaret A. Tucker,Linda Whitaker,Emanuel Yakobson,Joseph Malvehy,Celia Badenas,R. Cervera,Francisco Cuellar,Francisco Cuellar,Rosa M. Martí,Joan Brunet-Vidal,Guang Yang,Nicholas G. Martin,David C. Whiteman,Adèle C. Green,Joanne F. Aitken,Paola Minghetti,Michela Mantelli,Lorenza Pastorino,Sabina Nasti,Sara Gargiulo,Sara Gliori,Sushila Mistry,Juliette Randerson-Moor,Wilma Bergman,Jeanet A.C. ter Huurne,Clasine van der Drift,Leny van Mourik,Coby Out-Luiting,Frans A. van Nieuwpoort,Valérie Chaudru,Agnès Chompret,Caroline Kanengiesser,J. L. Michel,Florent Grange,B. Sassolas,Jean -Marc Limacher,D. Couillet,F. Truchetet,J. P. Cesarini,F. Boitier,Jacqueline Chevrant-Breton,Christine Lasset,Michel Longy,Pascal Joly,Nicole Basset-Seguin,T. Lesimple,Catherine Dugast,Arupa Ganguly,Michael Ming,Patricia Van Belle,Anton Platz,Suzanne Egyhazi,Rainer Tuominen,Diana Linden,Helen Schmid,Alon Scope,Felix Pavlotsky,Eitan Friedman,Mark J. Eliason,Christian Ingvar,Åke Borg,Johan Westerdahl,Anna Måsbäck,Håkan Olsson +99 more
TL;DR: This GenoMEL study provides the most extensive characterization of mutations in high-risk melanoma susceptibility genes in families with three or more melanoma patients yet available and there was little evidence for an association between CDKN2A mutations and NST, but there was a marginally significant association between NST and ARF.
Journal ArticleDOI
A Single SNP in an Evolutionary Conserved Region within Intron 86 of the HERC2 Gene Determines Human Blue-Brown Eye Color
Richard A. Sturm,David L. Duffy,Zhen Zhen Zhao,Fabio P.N. Leite,Mitchell S. Stark,Nicholas K. Hayward,Nicholas G. Martin,Grant W. Montgomery +7 more
TL;DR: It is concluded that the conserved region around rs12913832 represents a regulatory region controlling constitutive expression of OCA2 and that the C allele at rs129 13832 leads to decreased expression ofOCA2, particularly within iris melanocytes, which is postulate to be the ultimate cause of blue eye color.
Journal ArticleDOI
Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma‐prone families from three continents
Alisa M. Goldstein,May Chan,Mark Harland,Nicholas K. Hayward,Florence Demenais,D. Timothy Bishop,Esther Azizi,Wilma Bergman,Giovanna Bianchi-Scarrà,William Bruno,Donato Calista,Lisa A. Cannon Albright,Valérie Chaudru,Agnès Chompret,Francisco Cuellar,David E. Elder,Paola Ghiorzo,Elizabeth M. Gillanders,Nelleke A. Gruis,Johan Hansson,David W. Hogg,Elizabeth A. Holland,Peter A. Kanetsky,Richard F. Kefford,Maria Teresa Landi,Julie Lang,Sancy A. Leachman,Rona M. MacKie,Veronica Magnusson,Graham J. Mann,Julia A. Newton Bishop,Jane M. Palmer,Susana Puig,Joan Anton Puig-Butille,Mitchell S. Stark,Hensin Tsao,Margaret A. Tucker,Linda Whitaker,Emanuel Yakobson +38 more
TL;DR: The variation in CDKN2A mutations for the four features across continents is consistent with the lower melanoma incidence rates in Europe and higher rates of sporadic melanoma in Australia, which reflects the divergent spectrum of mutations in families from Australia versus those from North America and Europe.