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Prevalence of Germline BAP1, CDKN2A, and CDK4 Mutations in an Australian Population-Based Sample of Cutaneous Melanoma Cases.
Published in:
Twin Research & Human Genetics, 2015, v. 18, n. 2, p. 126, doi. 10.1017/thg.2015.12
By:
- Aoude, Lauren G.;
- Gartside, Michael;
- Johansson, Peter;
- Palmer, Jane M.;
- Symmons, Judith;
- Martin, Nicholas G.;
- Montgomery, Grant W.;
- Hayward, Nicholas K.
Publication type:
Article
Linkage analysis in familial melanoma kindreds to markers on chromosome 6p.
Published in:
International Journal of Cancer, 1994, v. 59, n. 6, p. 771, doi. 10.1002/ijc.2910590611
By:
- Walker, Graeme J.;
- Nancarrow, Derek J.;
- Walters, Marilyn K.;
- Palmer, Jane M.;
- Weber, James L.;
- Hayward, Nicholas K.
Publication type:
Article
Simple tandem repeat allelic deletions confirm the preferential loss of distal chromosome 6q in melanoma.
Published in:
International Journal of Cancer, 1994, v. 58, n. 2, p. 203, doi. 10.1002/ijc.2910580210
By:
- Walker, Graeme J.;
- Palmer, Jane M.;
- Walters, Marilyn K.;
- Nancarrow, Derek J.;
- Parsons, Peter G.;
- Hayward, Nicholas K.
Publication type:
Article
A rare missense variant in protection of telomeres 1 (POT1) predisposes to a range of haematological malignancies.
Published in:
British Journal of Haematology, 2021, v. 192, n. 2, p. e57, doi. 10.1111/bjh.17218
By:
- Nathan, Vaishnavi;
- Johansson, Peter A.;
- Palmer, Jane M.;
- Hamilton, Hayley R.;
- Howlie, Madeleine;
- Brooks, Kelly M.;
- Hayward, Nicholas K.;
- Pritchard, Antonia L.
Publication type:
Article
POT1 loss-of-function variants predispose to familial melanoma.
Published in:
Nature Genetics, 2014, v. 46, n. 5, p. 478, doi. 10.1038/ng.2947
By:
- Robles-Espinoza, Carla Daniela;
- Harland, Mark;
- Ramsay, Andrew J;
- Aoude, Lauren G;
- Quesada, Víctor;
- Ding, Zhihao;
- Pooley, Karen A;
- Pritchard, Antonia L;
- Tiffen, Jessamy C;
- Petljak, Mia;
- Palmer, Jane M;
- Symmons, Judith;
- Johansson, Peter;
- Stark, Mitchell S;
- Gartside, Michael G;
- Snowden, Helen;
- Montgomery, Grant W;
- Martin, Nicholas G;
- Liu, Jimmy Z;
- Choi, Jiyeon
Publication type:
Article
Frequent somatic mutations in MAP3K5 and MAP3K9 in metastatic melanoma identified by exome sequencing.
Published in:
Nature Genetics, 2012, v. 44, n. 2, p. 165, doi. 10.1038/ng.1041
By:
- Stark, Mitchell S;
- Woods, Susan L;
- Gartside, Michael G;
- Bonazzi, Vanessa F;
- Dutton-Regester, Ken;
- Aoude, Lauren G;
- Chow, Donald;
- Sereduk, Chris;
- Niemi, Natalie M;
- Tang, Nanyun;
- Ellis, Jonathan J;
- Reid, Jeffrey;
- Zismann, Victoria;
- Tyagi, Sonika;
- Muzny, Donna;
- Newsham, Irene;
- Wu, YuanQing;
- Palmer, Jane M;
- Pollak, Thomas;
- Youngkin, David
Publication type:
Article
Choroidal melanoma with synchronous Fuchs' adenoma and novel ATRX mutation.
Published in:
International Journal of Retina & Vitreous, 2022, v. 8, n. 1, p. 1, doi. 10.1186/s40942-022-00374-4
By:
- Harford, Elli;
- Palmer, Jane M.;
- Glasson, William J.;
- Warrier, Sunil K.;
- Whitehead, Kevin J.;
- Brooks, Kelly M.;
- Johansson, Peter A.;
- Hayward, Nicholas K.;
- McGrath, Lindsay A.
Publication type:
Article
Assessment of <i>PALB2</i> as a Candidate Melanoma Susceptibility Gene.
Published in:
PLoS ONE, 2014, v. 9, n. 6, p. 1, doi. 10.1371/journal.pone.0100683
By:
- Aoude, Lauren G.;
- Xu, Mai;
- Zhao, Zhen Zhen;
- Kovacs, Michael;
- Palmer, Jane M.;
- Johansson, Peter;
- Symmons, Judith;
- Trent, Jeffrey M.;
- Martin, Nicholas G.;
- Montgomery, Grant W.;
- Brown, Kevin M.;
- Hayward, Nicholas K.
Publication type:
Article
Analysis of the CDKN2A, CDKN2B and CDK4 genes in 48 Australian melanoma kindreds.
Published in:
Oncogene, 1997, v. 15, n. 24, p. 2999, doi. 10.1038/sj.onc.1201470
By:
- Flores, José F;
- Pollock, Pamela M;
- Walker, Graeme J;
- Glendening, J Michael;
- Lin, Amy H-T;
- Palmer, Jane M;
- Walters, Marilyn K;
- Hayward, Nicholas K;
- Fountain, Jane W
Publication type:
Article
Correction to: Prolonged stable disease in a uveal melanoma patient with germline MBD4 nonsense mutation treated with pembrolizumab and ipilimumab.
Published in:
2019
By:
- Johansson, Peter A.;
- Stark, Andrew;
- Palmer, Jane M.;
- Bigby, Kieron;
- Brooks, Kelly;
- Rolfe, Olivia;
- Pritchard, Antonia L.;
- Whitehead, Kevin;
- Warrier, Sunil;
- Glasson, William;
- Hayward, Nicholas K.
Publication type:
Correction Notice
Prolonged stable disease in a uveal melanoma patient with germline MBD4 nonsense mutation treated with pembrolizumab and ipilimumab.
Published in:
Immunogenetics, 2019, v. 71, n. 5/6, p. 433, doi. 10.1007/s00251-019-01108-x
By:
- Johansson, Peter A.;
- Stark, Andrew;
- Palmer, Jane M.;
- Bigby, Kieron;
- Brooks, Kelly;
- Rolfe, Olivia;
- Pritchard, Antonia L.;
- Whitehead, Kevin;
- Warrier, Sunil;
- Glasson, William;
- Hayward, Nicholas K.
Publication type:
Article
Primary Melanoma Tumors from CDKN2A Mutation Carriers Do Not Belong to a Distinct Molecular Subclass.
Published in:
Journal of Investigative Dermatology, 2014, v. 134, n. 12, p. 3000, doi. 10.1038/jid.2014.272
By:
- Staaf, Johan;
- Harbst, Katja;
- Lauss, Martin;
- Ringnér, Markus;
- Måsbäck, Anna;
- Howlin, Jillian;
- Jirström, Karin;
- Harland, Mark;
- Zebary, Abdlsattar;
- Palmer, Jane M;
- Ingvar, Christian;
- Olsson, Håkan;
- Newton-Bishop, Julia;
- Hansson, Johan;
- Hayward, Nicholas;
- Gruis, Nelleke;
- Jönsson, Göran
Publication type:
Article
Nevi, Family History, and Fair Skin Increase the Risk of Second Primary Melanoma.
Published in:
Journal of Investigative Dermatology, 2011, v. 131, n. 2, p. 461, doi. 10.1038/jid.2010.298
By:
- Siskind, Victor;
- Hughes, Maria Celia B.;
- Palmer, Jane M.;
- Symmons, Judith M.;
- Aitken, Joanne F.;
- Martin, Nicholas G.;
- Hayward, Nicholas K.;
- Whiteman, David C.
Publication type:
Article
Coexisting NRAS and BRAF Mutations in Primary Familial Melanomas with Specific CDKN2A Germline Alterations.
Published in:
Journal of Investigative Dermatology, 2010, v. 130, n. 2, p. 618, doi. 10.1038/jid.2009.287
By:
- Jovanovic, Braslav;
- Egyhazi, Suzanne;
- Eskandarpour, Malihe;
- Ghiorzo, Paola;
- Palmer, Jane M.;
- Bianchi Scarrà, Giovanna;
- Hayward, Nicholas K.;
- Hansson, Johan
Publication type:
Article
Multiplex melanoma families are enriched for polygenic risk.
Published in:
Human Molecular Genetics, 2020, v. 29, n. 17, p. 2976, doi. 10.1093/hmg/ddaa156
By:
- Law, Matthew H;
- Aoude, Lauren G;
- Duffy, David L;
- Long, Georgina V;
- Johansson, Peter A;
- Pritchard, Antonia L;
- Khosrotehrani, Kiarash;
- Mann, Graham J;
- Montgomery, Grant W;
- Iles, Mark M;
- Cust, Anne E;
- Palmer, Jane M;
- Consortium, Melanoma GWAS;
- Shannon, Kerwin F;
- Spillane, Andrew J;
- Stretch, Jonathan R;
- Thompson, John F;
- Saw, Robyn P M;
- Scolyer, Richard A;
- Martin, Nicholas G
Publication type:
Article
FRAMe: Familial Risk Assessment of Melanoma—a risk prediction tool to guide CDKN2A germline mutation testing in Australian familial melanoma.
Published in:
Familial Cancer, 2021, v. 20, n. 3, p. 231, doi. 10.1007/s10689-020-00209-x
By:
- Holland, Elizabeth A.;
- Lo, Serigne;
- Kelly, Blake;
- Schmid, Helen;
- Cust, Anne E.;
- Palmer, Jane M.;
- Drummond, Martin;
- Hayward, Nicholas K.;
- Pritchard, Antonia L.;
- Mann, Graham J.
Publication type:
Article
Mutation analysis of the CDKN2A promoter in Australian melanoma families.
Published in:
Genes, Chromosomes & Cancer, 2001, v. 32, n. 1, p. 89, doi. 10.1002/gcc.1170
By:
- Pollock, Pamela M.;
- Stark, Mitchell S.;
- Palmer, Jane M.;
- Walters, Marilyn K.;
- Aitken, Joanne F.;
- Martin, Nicholas G.;
- Hayward, Nicholas K.
Publication type:
Article
A genetic model of melanoma tumorigenesis based on allelic losses.
Published in:
Genes, Chromosomes & Cancer, 1995, v. 12, n. 2, p. 134, doi. 10.1002/gcc.2870120208
By:
- Walker, Graeme J.;
- Palmer, Jane M.;
- Walters, Marilyn K.;
- Hayward, Nicholas K.
Publication type:
Article
A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma.
Published in:
Nature, 2011, v. 480, n. 7375, p. 99, doi. 10.1038/nature10630
By:
- Yokoyama, Satoru;
- Woods, Susan L.;
- Boyle, Glen M.;
- Aoude, Lauren G.;
- MacGregor, Stuart;
- Zismann, Victoria;
- Gartside, Michael;
- Cust, Anne E.;
- Haq, Rizwan;
- Harland, Mark;
- Taylor, John C.;
- Duffy, David L.;
- Holohan, Kelly;
- Dutton-Regester, Ken;
- Palmer, Jane M.;
- Bonazzi, Vanessa;
- Stark, Mitchell S.;
- Symmons, Judith;
- Law, Matthew H.;
- Schmidt, Christopher
Publication type:
Article
Germline variants in oculocutaneous albinism genes and predisposition to familial cutaneous melanoma.
Published in:
Pigment Cell & Melanoma Research, 2019, v. 32, n. 6, p. 854, doi. 10.1111/pcmr.12804
By:
- Nathan, Vaishnavi;
- Johansson, Peter A.;
- Palmer, Jane M.;
- Howlie, Madeleine;
- Hamilton, Hayley R.;
- Wadt, Karin;
- Jönsson, Göran;
- Brooks, Kelly M.;
- Pritchard, Antonia L.;
- Hayward, Nicholas K.
Publication type:
Article
Nonsense Mutations in the Shelterin Complex Genes ACD and TERF2IP in Familial Melanoma.
Published in:
JNCI: Journal of the National Cancer Institute, 2015, v. 107, n. 2, p. 1, doi. 10.1093/jnci/dju408
By:
- Aoude, Lauren G.;
- Pritchard, Antonia L.;
- Robles-Espinoza, Carla Daniela;
- Wadt, Karin;
- Harland, Mark;
- Choi, Jiyeon;
- Gartside, Michael;
- Quesada, Víctor;
- Johansson, Peter;
- Palmer, Jane M.;
- Ramsay, Andrew J.;
- Zhang, Xijun;
- Jones, Kristine;
- Symmons, Judith;
- Holland, Elizabeth A.;
- Schmid, Helen;
- Bonazzi, Vanessa;
- Woods, Susan;
- Dutton-Regester, Ken;
- Stark, Mitchell S.
Publication type:
Article
Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma.
Published in:
2015
By:
- Aoude, Lauren G;
- Pritchard, Antonia L;
- Robles-Espinoza, Carla Daniela;
- Wadt, Karin;
- Harland, Mark;
- Choi, Jiyeon;
- Gartside, Michael;
- Quesada, Víctor;
- Johansson, Peter;
- Palmer, Jane M;
- Ramsay, Andrew J;
- Zhang, Xijun;
- Jones, Kristine;
- Symmons, Judith;
- Holland, Elizabeth A;
- Schmid, Helen;
- Bonazzi, Vanessa;
- Woods, Susan;
- Dutton-Regester, Ken;
- Stark, Mitchell S
Publication type:
journal article
Whole genome landscapes of uveal melanoma show an ultraviolet radiation signature in iris tumours.
Published in:
Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-16276-8
By:
- Johansson, Peter A.;
- Brooks, Kelly;
- Newell, Felicity;
- Palmer, Jane M.;
- Wilmott, James S.;
- Pritchard, Antonia L.;
- Broit, Natasa;
- Wood, Scott;
- Carlino, Matteo S.;
- Leonard, Conrad;
- Koufariotis, Lambros T.;
- Nathan, Vaishnavi;
- Beasley, Aaron B.;
- Howlie, Madeleine;
- Dawson, Rebecca;
- Rizos, Helen;
- Schmidt, Chris W.;
- Long, Georgina V.;
- Hamilton, Hayley;
- Kiilgaard, Jens F.
Publication type:
Article
Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.
Published in:
PLoS ONE, 2018, v. 13, n. 4, p. 1, doi. 10.1371/journal.pone.0194098
By:
- Pritchard, Antonia L.;
- Johansson, Peter A.;
- Nathan, Vaishnavi;
- Howlie, Madeleine;
- Symmons, Judith;
- Palmer, Jane M.;
- Hayward, Nicholas K.
Publication type:
Article

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