Assessment of PALB2 as a candidate melanoma susceptibility gene.

Autor: Lauren G Aoude, Mai Xu, Zhen Zhen Zhao, Michael Kovacs, Jane M Palmer, Peter Johansson, Judith Symmons, Jeffrey M Trent, Nicholas G Martin, Grant W Montgomery, Kevin M Brown, Nicholas K Hayward

Publikováno v: PLoS ONE, Vol 9, Iss 6, p e100683 (2014)

Partner and localizer of BRCA2 (PALB2) interacts with BRCA2 to enable double strand break repair through homologous recombination. Similar to BRCA2, germline mutations in PALB2 have been shown to predispose to Fanconi anaemia as well as pancreatic an

Externí odkaz: https://doaj.org/article/ab5823f09c524183821f4bc23196d80c

Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide

Autor: Carla Daniela Robles-Espinoza, Hilary Racher, Luca Mastracci, Robert Pilarski, Frederick H. Davidorf, Saleem Taibjee, William Glasson, Martine J. Jager, Jo Burke, Ivana K. Kim, Lisa Golmard, Rajmohan Murali, Hayley Hamilton, Giulia Ciccarese, Jane M. Palmer, Madeleine Howlie, Arnaud de la Fouchardière, David J. Adams, Tero Kivelä, Sonika Dahiya, Peter Johansson, Lorenza Pastorino, Sebastian Walpole, Annelies de Klein, Bruna Dalmasso, Anne Marie Lane, Marina Marinkovic, William Bruno, Judith Symmons, Sonja Klebe, Julia Newton-Bishop, Marc-Henri Stern, Michael R. Speicher, Joni A. Turunen, Colleen M. Cebulla, Dominique Stoppa-Lyonnet, Carsten Bergmann, Hildur Helgadottir, Mohamed H. Abdel-Rahman, S.J. O’Shea, Meredith Stautberg, Ching-Ni Njauw, Jens Folke Kiilgaard, Pauliina Repo, Erin M. Garfield, Paola Queirolo, Rana'a T. Al-Jamal, Remco van Doorn, Antonia L. Pritchard, Gregorius P M Luyten, Michael L. Nickerson, Mitchell Cheung, Pedram Gerami, Miriam Potrony, Paola Ghiorzo, Odile Cabaret, Julian Adlard, Veronica Höiom, Hensin Tsao, Cindy Chau, J. William Harbour, Irma Dianzani, Joseph R. Testa, Brigitte Bressac-de Paillerets, Sunil K Warrier, Maartje Nielsen, Marta Betti, Susana Puig, Emine Kilic, Sandro Santagata, Karin Wadt, Nicholas K. Hayward, Virginia Andreotti, Raul Ossio, Natasha M. van Poppelen, Nicola K. Poplawski, Reetta Stiina Järvinen

Publikováno v: JNCI: Journal of the National Cancer Institute, 110(12), 1328-1341
Journal of the National Cancer Institute, 110(12):djy171, 1328-1341. Oxford University Press

BACKGROUND: The BRCA1-associated protein-1 (BAP1) tumor predisposition syndrome (BAP1-TPDS) is a hereditary tumor syndrome caused by germline pathogenic variants in BAP1 encoding a tumor suppressor associated with uveal melanoma, mesothelioma, cutane

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1e00d5ee926817375585c9402cd2da2
https://doi.org/10.1093/jnci/djy171

miR-514a regulates the tumour suppressor NF1 and modulates BRAFi sensitivity in melanoma

Autor: Catherine M. Lanagan, Judith Symmons, Adrian C. Herington, Nicholas K. Hayward, Vanessa F. Bonazzi, Mitchell S. Stark, Jane M. Palmer, Glen M. Boyle, Christopher W. Schmidt, Pamela M. Pollock, Robert Ballotti

Publikováno v: Oncotarget
EBioMedicine
ResearcherID

// Mitchell S. Stark 1,2 , Vanessa F. Bonazzi 3 , Glen M. Boyle 1 , Jane M. Palmer 1 , Judith Symmons 1 , Catherine M. Lanagan 1 , Christopher W. Schmidt 1 , Adrian C. Herington 2 , Robert Ballotti 3 , Pamela M. Pollock 2 and Nicholas K. Hayward 1 1

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c42d9cbb50b48c6c36d84ccf3934f71f
https://doi.org/10.18632/oncotarget.3924

POT1 loss-of-function variants predispose to familial melanoma

Autor: Andrew J. Ramsay, Zhihao Ding, Carlos López-Otín, Jimmy Z. Liu, Judith Symmons, Carla Daniela Robles-Espinoza, Víctor Quesada, D. Timothy Bishop, Nicholas G. Martin, Jiyeon Choi, Jane M. Palmer, Mia Petljak, Michael Gartside, Nelleke A. Gruis, David J. Adams, Alison M. Dunning, Karen A. Pooley, Grant W. Montgomery, Nicholas K. Hayward, Matthew M. Makowski, Peter Johansson, Antonia L. Pritchard, Julia Newton-Bishop, Jessamy Tiffen, Kevin M. Brown, Mark Harland, Helen Snowden, Lauren G. Aoude, Thomas M. Keane, Mitchell S. Stark

Publikováno v: Nature Genetics, 46(5), 478-481
Nature genetics

Deleterious germline variants in CDKN2A account for around 40% of familial melanoma cases1, while rare variants in CDK4, BRCA2, BAP1, and the promoter of TERT, have also been linked to the disease2-5. Here we set out to identify novel high-penetrance

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2a262aeef5c725367b18c57a0768e14
https://doi.org/10.1038/ng.2947

POLE mutations in families predisposed to cutaneous melanoma

Autor: Jane M. Palmer, Peter Johansson, Antonia L. Pritchard, Ellen Heitzer, Nicholas K. Hayward, Nicholas G. Martin, Stephen E. Kearsey, Anne-Marie Gerdes, Grant W. Montgomery, Michael Gartside, Karin Wadt, Judith Symmons, Lauren G. Aoude, Ian Tomlinson

Publikováno v: Familial cancer. 14(4)

Germline mutations in the exonuclease domain of POLE have been shown to predispose to colorectal cancers and adenomas. POLE is an enzyme involved in DNA repair and chromosomal DNA replication. In order to assess whether such mutations might also pred

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6838223ba92529fe4a6e25504c7dda8
https://pubmed.ncbi.nlm.nih.gov/26251183