NE Italy Melanoma Families Group

Our institution

National Cancer Institute


Our group

North Eastern Italy Melanoma Families Group
Genetic Epidemiology Branch
Division of Cancer Epidemiology and Genetics
National Cancer Institute
NIH/DHHS
Executive Plaza South
6120 Executive Blvd., Room 7114
Bethesda, MD 20892-7236
USA


The Group leader

Maria Teresa Landi, M.D., Ph.D.
Genetic Epidemiology Branch
Division of Cancer Epidemiology and Genetics
National Cancer Institute
NIH/DHHS
Executive Plaza South
6120 Executive Blvd., Room 7114
Bethesda, MD 20892-7236
USA

Tele: 01-301-402-9519
Fax: 01-301-402-4489
Email: landim@mail.nih.gov


We initiated a genetic epidemiologic study of familial melanoma in Cesena, Italy in 1994, in the North Eastern area of Italy. The major goal of the study is to investigate the genetic and environmental determinants of melanoma, in families with 2 or more relatives with melanoma. Multiple primary melanoma, dysplastic nevi, and pancreatic cancer cases are present in several families.

For families with no mutations in the CDKN2A gene, we search for additional susceptibility loci for melanoma. In addition, we study the contribution of modifier genes, including those involved in pigmentation, immune regulation, and DNA repair, and their interaction with environmental factors in the genesis of melanoma. Patients are evaluated at the Maurizio Bufalini Hospital of Cesena, Italy. The team currently include genetic epidemiologists, physicians, technicians, and laboratory investigators.


Related Links

National Cancer Institute
http://cancer.gov/

Genetic Epidemiology Branch
http://dceg.cancer.gov/genetic.html


The names and e-mail addresses of group members with a description of their contribution

Principal researchers

Maria Teresa Landi, MD, PhD
landim@mail.nih.gov

Alisa Goldstein, PhD
goldstea@mail.nih.gov

Margaret Tucker, MD
tuckerp@mail.nih.gov

Donato Calista
calista@iol.it

 

Labratory Scientists

Shirley Tsang, PhD
st248s@nih.gov

David Munroe, PhD
dm368n@nih.gov

 

Postdoctoral Fellow

Kimberly Kerstann, PhD
kkerstan@mail.nih.gov

 

Technicians

Paola Minghetti, MS
pminghetti@ausl-cesena.emr.it


University of Genova

genoateam

Our institution

Medical School
University of Genova
Via L.B. Alberti, 4
16132 Genova
Italy


Our group

Skin Cancer Genetics Group
Department of Oncology, Biology and Genetics
University of Genova
Viale Benedetto XV, 6
16132 Genova
Italy


The name, address and contact e-mail, tel of the group leader

Prof. Giovanna Bianchi-Scarrà, PhD
Department of Oncology, Biology and Genetics
Viale Benedetto XV, 6
16132 Genova
Italy

E-mail: vanceci@unige.it
Phone: (+39) 010 – 3537977
Fax: (+39) 010 – 3538978


The Skin Cancer Genetics Group at the Dept. of Oncology, Biology and Genetics conducts research on familial melanoma (high- and low-penetrance genes), presence of other cancers in melanoma-prone kindreds, and other heritable syndromes involving skin cancer.


Familial melanoma

Melanoma families in our region, Liguria, share a common primary susceptibility, the CDKN2A G101W founder mutation. Generally, CDKN2A mutations are found in large, dense melanoma kindreds. In Liguria, however, the G101W founder mutation is commonly identified in kindreds with just two affected members. In order to explain this finding we are studying other genes and factors that may be able to modify penetrance of the disease. Amongst these, over the past few years we have focused on the MC1R gene, variants of which are associated with fair skin and melanoma risk. We have recently identified novel variants of MC1R in Ligurian individuals, and found that in our population homozygosity or compound heterozygosity for high penetrance MC1R variants are not necessarily associated with red hair.

Moreover, we are setting up a nation-wide population-based study to establish the ratio of familial/non-familial G101W-mutated cases in Italy, in cooperation with Cancer Registries throughout the country.

We have also been studying the expression of the p16 protein in mutation-positive melanoma lesions, and have recently found that it is inversely correlated with tumor progression and shows altered subcellular distribution.

Other cancers in melanoma-prone kindreds

Many studies have reported that members of melanoma kindreds have a significantly increased risk of developing pancreatic cancer, and we have confirmed their results in our Ligurian melanoma families. We are currently conducting a hospital-based study to determine the frequency of both pancreatic and breast cancer in melanoma-prone families, and possibly explain the involvement of the CDKN2A and BRCA2 genes in the development of pancreatic cancer among patients whose family history of cancer displays the features of familial melanoma or breast-ovarian cancer syndrome or clusterings of tumor types which do not fit the stringent criteria for known hereditary cancer syndromes.

Other heritable syndromes involving skin cancers

More recently we have started to study Nevoid Basal Cell Carcinoma Syndrome (NBCCS). We have completed the first molecular characterization of Italian NBCCS patients, and expect to provide soon a preliminary genotype-phenotype correlation which may lead to improved accuracy of diagnosis and help specialists to provide better and more appropriate treatment options.


Related Links

Facoltà di Medicina e Chirurgia, Università di Genova
http://en.unige.it/facolta/06.shtml

Dipartimento di Biologia, Oncologia e Genetica
http://www.dobig.unige.it/indiceE.htm

Italian Melanoma Intergroup
http://www.imi-online.it/

INSERM Universite d’Evry

francegenopole

Our institution

INSERM – UNIVERSITE D’EVRY
Tour Evry 2 – Génopole“
523 Place des Terrasses de l’Agora
91034 Evry
FRANCE

INSTITUT GUSTAVE ROUSSY
39 rue Camille Desmoulins
94805 Villejuif
FRANCE


Our group

EMI-0006 – INSERM–UNIVERSITE D’EVRY (Genetic Epidemiology)
Tour Evry 2
523 Place des Terrasses de l’Agora
91034 Evry
France

Department of Dermatology (dermatology clinic)
Department of Genetics
(molecular genetics)
Department of Medicine
(oncogenetics)
Institut Gustave Roussy
39 rue Camille Desmoulins
94805 Villejuif
France


The name, address and contact e-mail, tel of the group leader

Dr. Florence Demenais, MD
EMI-0006 – INSERM – UNIVERSITE D’EVRY
Tour Evry 2 – 523 Place des Terrasses de l’Agora
91034 Evry
France

E-mail: demenais@evry.inserm.fr
Phone: 33-1-60-87-3826
Fax: 33-1-60-87-3848


Our melanoma research program is a multidisciplinary program involving clinicians, molecular biologists and onco-geneticists from Institut Gustave Roussy and genetic epidemiologists from INSERM-Université d’Evry, working with a network of Dermatologists and Oncogeneticists.

The overall objective of our research program is to identify inherited genes and gene-environment interactions involved in melanoma pathogenesis. Large collections of data have been established over the past 15 years including families ascertained through one melanoma proband, families with at least two melanoma cases and more recently sporadic cases with multiple primary melanomas and/or young age at onset suggesting genetic predisposition. The main outcomes of this program are summarized as follows.

The rate of CKDN2A mutations identified in melanoma-prone families is one of the highest rates reported worldwide in clinically-selected families. One of these mutations (G101W) demonstrated a founder effect common to French, Italian, Spanish and North-American pedigrees and was also found in sporadic cases indicating a highly variable expression of this mutation. More recently, a CDKN2A mutation (Gly67Ser) was found to co-segregate with both cutaneous and uveal melanoma in one pedigree showing that CDKN2A is also an uveal melanoma predisposing gene. In the search for new melanoma predisposing genes, the BRAF gene, for which a high frequency of somatic mutations was reported in melanoma cell lines, primary tumors and nevi, did not appear to predispose to melanoma in our population.

Segregation analysis, based on methodology developed by our group, showed significant evidence for a major gene segregating in families ascertained systematically through one melanoma proband; interestingly the penetrance of this gene (reaching 49% in males and 67% in females by age 80 years) was similar to that of CDKN2A gene estimated in the European families of the International Melanoma Consortium. Moreover, the same factors increased the penetrance of this gene and that of CDKN2A in our French family samples: nevus phenotypes (high number of nevi, dysplastic nevi) and sunburns with a marginal effect of high degree of sun exposure. More recently, variants of MC1R gene, known to be involved in human pigmentation, were found to increase CDKN2A penetrance in addition to dysplastic nevi and sunburns in French melanoma-prone pedigrees. In addition, significant evidence for familial aggregation of melanoma risk factors was found in our series of families with at least two melanoma cases, these patterns of familial clustering being compatible with the influence of genetic factors for phototype and high number of nevi and shared environment for sun exposure.

The future aims of our research program include the search for high-risk genes in CDKN2A negative melanoma-prone families, the identification of genetic variants in candidate genes accounting for cases with low familial clustering and multiple sporadic melanoma and the characterization of gene-gene as well gene-environment interactions. A genetic study of the high number of nevi has also been undertaken that will include a genome-wide scan to characterize the chromosomal regions of interest to be further explored towards gene identification.

Our group is also involved in other research projects including clinical research on melanoma (Institut Gustave Roussy), molecular genetic studies of other cancers (Institut Gustave Roussy), as well as development of methodology in statistical genetics and genetic epidemiology of other multifactorial diseases (EMI-0006).


Related Links

Institut Gustave Roussy (IGR)
www.igr.fr

Institut National de la Santé et de la Recherche Médicale (INSERM)
www.inserm.fr

Université d’Evry
www.univ-evry.fr

Génopole
www.genopole.org


The names and e-mail addresses of group members with a description of their contribution

Principal researchers

Florence Demenais, MD
demenais@evry.inserm.fr

Brigitte Bressac-de Paillerets, PharmD, PhD
bressac@igr.fr

Marie-Françoise Avril, MD
avril@igr.fr

Valérie Chaudru, PhD
chaudru@evry.inserm.fr

PhD-students

Kannengiesser Caroline
kannengiesser@igr.fr

Technician

Delphine Lequin

Data collection and management

Babayou Elham
babayou@evry.inserm.fr


Publications

Avril MF., Aamdal S., Grob JJ., Hauschild A, Mohr P, Bonerandi JJ, Weichenthal M, Neuber K, Bieber T, Gilde K, Guillem Porta V, Fra J, Bonneterre J, Saiag P, Kamanabrou D, Pehamberger H, Sufliarsky J, Gonzalez Larriba JL, Scherrer A, Menu Y.
Fotemustine compared with dacarbazine in patients with disseminated malignant melanoma: a phase III study.
J Clin Oncol, 22:1118-25, 2004.

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=15020614

Chaudru V., Chompret A., Bressac-de Paillerets B., the French Familial Melanoma Study Group, Avril M-F., Demenais F.
Influence of genes, nevi and sun-sensitivity on melanoma risk in a family sample unselected by family history and in melanoma-prone families.
J Natl Cancer Inst, 96: 785-795, 2004.

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=15150307

Ibrahim el C, Aractingi S, Allory Y, Borrini F, Dupuy A, Duvillard P, Carosella ED, Avril MF, Paul P.
Analysis of HLA antigen expression in benign and malignant melanocytic lesions reveals that upregulation of HLA-G expression correlates with malignant transformation, high inflammatory infiltration and HLA-A1 genotype.
Int J Cancer,108:243-50, 2004.

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=14639610

Kannengiesser C., Avril M-F., Spatz A., Laud K., Lenoir G.M., Bressac-de Paillerets B.
CDKN2A as a uveal and cutaneous melanoma susceptibility gene.
Genes Chromosomes Cancer, 2003, 38: 265-268.

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=14506702

Gillanders,E.; Hank Juo,S.H.; Holland,E.A.; Jones,M.; Nancarrow,D.; Freas-Lutz,D.; Sood,R.; Park,N.; Faruque,M.; Markey,C.; Kefford,R.F.; Palmer,J.; Bergman,W.; Bishop,D.T.; Tucker,M.A.; Bressac-de Paillerets,B.; Hansson,J.; Stark,M.; Gruis,N.; Bishop,J.N.; Goldstein,A.M.; Bailey-Wilson,J.E.; Mann,G.J.; Hayward,N.; Trent,J.
Localization of a novel melanoma susceptibility locus to 1p22.
Am J Hum Genet, 2003, 73: 301-313.

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=12844286

Laud K., Kannengiesser C., Avril M-F., Chompret A., Stoppa-Lyonnet D., Desjardins L., Eychene A., Demenais F., French Hereditary Melanoma Study Group, Lenoir, G.M., Bressac-de Paillerets B.
BRAF as a melanoma susceptibility candidate gene?
Cancer Res, 2003, 63:3061-5

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=12844286

Fung D.C.Y., Holland E.A., Hayward N.K., Bressac-de Paillerets B., Melanoma Genetics Consortium, Mann G.J.
eMelanoBase: an online locus-specific variant database for familial melanoma.
Hum Mut, 2003, 21:2-7.

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=12497626

Yakobson E, Eisenberg S, Isacson R, Halle D, Levy-Lahad E, Catane R, Safro M, Sobolev V, Huot T, Peters G, Ruiz A, Malvehy J, Puig S, Chompret A, Avril MF, Shafir R, Peretz H, Bressac-de Paillerets B.
A single Mediterranean, possibly Jewish, origin for the Val59Gly CDKN2A mutation in four melanoma-prone families.
Eur J Hum Genet,11:288-96, 2003.

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=12700603

Kefford R., Newton-Bishop J., Tucker M., Bressac-de Paillerets B., Bianchi-Scarra G., Bergman W., Goldstein A., Puig S., Mackie R., Elder D., Hansson J., Hayward N., Hogg D., Olsson H. for the Melanoma Genetics Consortium.
Genetic testing for melanoma.
Lancet Oncology, 3: 653-654, 2002.

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=12424065

Bishop D.T.*, Demenais F.*, Goldstein A.M.* (*These authors contributed equally to this work), Bergman W., Newton Bishop J, Bressac-de Paillerets B., Chompret, A., Ghiorzo P., Gruis N., Hansson J., Harland M., Hayward N., Holland E.A., Mann G.J., Mantelli M., Nancarrow D., Platz A., Tucker M.A., The Melanoma Genetics Consortium.
Geographical variation in the penetrance of CDKN2A mutations for melanoma.
J Natl Cancer Inst, 94, 894-903, 2002.

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=12072543

Bressac-de Paillerets B., Avril M-F., Chompret A., Demenais F.
Genetic and environmental factors in cutaneous malignant melanoma.
Biochimie, 84, 67-74, 2002.

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=11900878

Briollais L, Demenais F.
Regressive threshold model for familial analysis of complex diseases with variable age of onset.
Genet Epidemiol,23:375-97,2002.

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=12432505

Avril MF, Chompret A, Verne-Fourment L, Terrier-Lacombe MJ, Spatz A, Fizazi K, Bressac-de Paillerets B, Demenais F, Theodore C.
Association between germ cell tumours, large numbers of naevi, atypical naevi and melanoma.
Melanoma Res,11:117-22, 2001.

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=11333120

Auroy S., Avril M-F., Chompret A., Pham D., Goldstein A.M., Bianchi-Scarrà G., Frébourg T., Joly P., Spatz A., Rubino C., Demenais F., French Hereditary Melanoma Study Group and Bressac-de Paillerets B.
Sporadic multiple primary melanoma cases : CDKN2A germline mutations with a founder effect.
Genes Chromosomes Cancer, 32: 195-202, 2001.

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=11579459

Briollais L., Chompret A., Guilloud-Bataille M., Bressac-de Paillerets B., Avril M-F., Demenais F.
Patterns of familial aggregation of three melanoma risk factors: great number of naevi, light phototype and high degree of sun exposure.
Int J Epidemiol., 29:408-15, 2000.

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=10869311

Ciotti P., Struewing J-P., Mantelli M., Chompret A., Avril M-F., Santi P.L., Tucker P., *Bianchi-Scarra G., *Bressac-de Paillerets B., and *Goldstein A.M. *These authors contributed equally to this work.
A single genetic origin for the G101W mutation in 20 melanoma-prone families.
Am J Hum Genet, 67:311-319, 2000.

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=10869234

Goldstein AM, Martinez M, Tucker MA, Demenais F.
Gene-covariate interaction between dysplastic nevi and the CDKN2A gene in American melanoma-prone families.
Cancer Epidemiol Biomarkers Prev, 9:889-94, 2000.

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=11008905

University of Leeds

Prof Newton Bishop Group Shots 03

 

 

 

 

 

 

Our Group

Section of Epidemiology and Biostatistics
Leeds Institute of Cancer and Pathology
Cancer Genetics Building
St. James’s University Hospital
Leeds LS9 7TF

Group leader

Professor Julia A. Newton Bishop
Melanoma Group Leader
Section of Epidemiology and Biostatistics
Leeds Institute of Cancer and Pathology
Cancer Genetics Building
St. James’s University Hospital
Leeds LS9 7TF
E-mail: j.a.newton-bishop@leeds.ac.uk
Phone: 44 (0)113 2064668
Personal Assistant: Katie Cairns 44( 0) 1132064573
Fax: 44 (0)113 2340183
The Section of Epidemiology and Biostatistics in Leeds works to understand and identify genes predisposing to melanoma, bowel and testis cancers. It is also involved in developing statistical methods and applying these methods to the cancers being studied.
The group is also concerned with understanding how genes interact with lifestyle in determining risk of cancer and survival.

Melanoma research
In the melanoma group, lead by Professor Newton Bishop, we have studied high penetrance genes (familial melanoma genes) from families with multiple cases of melanoma. To investigate lower penetrance susceptibility genes and the interaction between genes and the environment (with respect to survival), we recruited a large cohort of melanoma patients (2184 patients participated in a study we call the Leeds Melanoma Cohort), their families and matched population controls.
We also study patients who have relapsed with melanoma and compared them to controls who have not relapsed in order to look at factors associated with prognosis. We have shown for example that patients with higher vitamin D levels when they are diagnosed are less likely to have further recurrence of their melanoma. Although we have stopped recruiting to the Leeds Melanoma Cohort we continue to use the data and samples we collected to try to understand recurrence and the effects that genes and lifestyles have on recurrence. We will continue to post summaries of the research as it is published on this web site within the information for patients.

Information for families with Melanoma taking part in research in Leeds
This Familial Melanoma Study has now ceased recruitment in the UK. We continue to work on the data and the samples collected however in order to identify genes which increase the risk of this form of skin cancer. We will continue to post summaries of the research as it is published on this web site within the information for patients.

Additional Links

Cancer Bacup
www.cancerbacup.org.uk/Home

This is the national cancer information service for people who have been diagnosed with cancer. There are comprehensive booklets for most of the cancers that can be ordered and information online about them. It also provides up-to-date information about trials and treatments.

Wessex Cancer Trust
www.wessexcancer.org

This is the UK’s only specialist skin cancer helpline and advice centre. The skin cancer section of the site provides information about the different skin cancers, skin disorders and sun protection.

Genetic Interest Group
www.gig.org.uk

This is a national alliance of patient organizations. Each of the organizations focuses on a different genetic disorder.

Human Genetics Commission
www.hgc.gov.uk

This is the UK government website on genetics.

QIMR Berghofer Medical Research Institute

 

QIMR Berghofer Medical Research Institute
300 Herston Rd
Herston
QLD 4029
Australia
Ph: 61-7-33620306
Fax: 61-7-38453508

 

 

 

 

Group Leader

Nicholas Hayward PhD

phototonyphillips.com

 

 

 

 

 

 

 

 

 

 

E-mail: nick.hayward@qimr.edu.au

Web: http://www.qimrberghofer.edu.au/lab/oncogenomics/

 

Group Members

Dr Antonia Pritchard – Post-doctoral fellow
Dr Peter Johansson – Post-doctoral fellow
Ken Dutton-Regester – Post-doctoral fellow
Jane Palmer – Research nurse
Judith Symmons – Research nurse
Madeleine Howlie – Research nurse
Vaishnavi Nathan – Research technician

Research

Melanoma research in the Oncogenomics Laboratory is centred on three closely related themes:

  • The identification of high penetrance germline mutations conferring susceptibility in families with multiple cases of melanoma.

To address this aim we have recruited >500 multiple-case melanoma families and have been systematically sequencing the exomes or genomes of affected family members to identify DNA variants that  segregate with melanoma in each family and hence which may play a role in predisposing carriers to melanoma.

  • The identification of low penetrance polymorphisms associated with increased risk of melanoma in the general population.

To address this aim we have recruited >1200 ‘sporadic’ melanoma cases (i.e. unselected for family history of melanoma) and have used genome-wide association studies (GWAS) to identify common DNA variants associated with melanoma susceptibility.

  • The characterization of somatic mutations and dysregulated gene expression patterns responsible for melanoma development.

To address this aim we have been conducting whole-genome sequencing of >500 melanomas of diverse histological subtypes and combining these data with analysis of gene expression (RNASeq and microarray) to identify mutations and altered gene regulation responsible for driving melanocytic neoplasia.

Publications

Law MH, Montgomery GW, Brown KM, Martin NG, Mann GJ, HAYWARD NK, Macgregor S. Meta-Analysis Combining New and Existing Data Sets Confirms that the TERT-CLPTM1L Locus Influences Melanoma Risk. J Invest Dermatol. 2012 Feb;132(2):485-7

Yang XR, Brown K, Landi MT, Ghiorzo P, Badenas C, Xu M, HAYWARD NK, Calista D, Landi G, Bruno W, Bianchi-Scarrà G, Aguilera P, Puig S, Goldstein AM, Tucker MA. Duplication of CXC chemokine genes on chromosome 4q13 in a melanoma-prone family. Pigment Cell Melanoma Res. 2012 Mar;25(2):243-247.

Dutton-Regester K, Irwin D, Hunt P, Aoude LG, Tembe V, Pupo GM, Lanagan C, Carter CD, O’Connor L, O’Rourke M, Scolyer RA, Mann GJ, Schmidt CW, Herington A, HAYWARD NK. A high-throughput panel for identifying clinically relevant mutation profiles in melanoma. Mol Cancer Ther. 2012 Apr;11(4):888-97.

Dutton-Regester K, Aoude LG, Nancarrow DJ, Stark MS, O’Connor L, Lanagan C, Pupo GM, Tembe V, Carter CD, O’Rourke M, Scolyer RA, Mann GJ, Schmidt CW, Herington A, HAYWARD NK. Identification of TFG (TRK-fused gene) as a putative metastatic melanoma tumor suppressor gene. Genes Chromosomes Cancer. 2012 May;51(5):452-61.

Krauthammer M, Kong Y, Ha BH, Evans P, Bacchiocchi A, McCusker JP, Cheng E, Davis MJ, Goh G, Choi M, Ariyan S, Narayan D, Dutton-Regester K, Capatana A, Holman EC, Bosenberg M, Sznol M, Kluger HM, Brash DE, Stern DF, Materin MA, Lo RS, Mane S, Ma S, Kidd KK, HAYWARD NK, Lifton RP, Schlessinger, Boggon TJ, Halaban R. Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma. Nature Genetics 2012 Sep;44(9):1006-14.

Kasparian NA, Bränström R, Chang YM, Affleck P, Aspinwall LG, Tibben A, Azizi E, Baron-Epel O, Battistuzzi L, Bruno W, Chan M, Cuellar F, Debniak T, Pjanova D, Ertmanski S, Figl A, Gonzalez M, HAYWARD NK, Hocevar M, Kanetsky PA, Leachman S, Bergman W, Heisele O, Palmer J, Peric B, Puig S, Schadendorf D, Gruis NA, Newton-Bishop J, Brandberg Y; for the Melanoma Genetics Consortium (GenoMEL). Skin Examination Behavior: The Role of Melanoma History, Skin Type, Psychosocial Factors, and Region of Residence in Determining Clinical and Self-conducted Skin Examination. Arch Dermatol. 2012 Oct;148(10):1142-51.

Wadt K, Choi J, Chung JY, Kiilgaard J, Heegaard S, Drzewiecki KT, Trent JM, Hewitt SM, HAYWARD NK, Gerdes AM, Brown KM. A cryptic BAP1 splice mutation in a family with uveal and cutaneous melanoma, and paraganglioma. Pigment Cell Melanoma Res. 2012 Nov;25(6):815-8.

Aoude LG, Vajdic CM, Kricker A, Armstrong B, HAYWARD NK. Prevalence of germline BAP1 mutation in a population-based sample of uveal melanoma cases. Pigment Cell Melanoma Res. 2013 Mar;26(2):278-9.

Iles MM, Law MH, Stacey SN, Han J, Fang S, Pfeiffer R, Harland M, Macgregor S, Taylor JC, Aben KK, Akslen LA, Avril MF, Azizi E, Bakker B, Benediktsdottir KR, Bergman W, Scarrà GB, Brown KM, Calista D, Chaudru V, Fargnoli MC, Cust AE, Demenais F, de Waal AC, Dębniak T, Elder DE, Friedman E, Galan P, Ghiorzo P, Gillanders EM, Goldstein AM, Gruis NA, Hansson J, Helsing P, Hočevar M, Höiom V, Hopper JL, Ingvar C, Janssen M, Jenkins MA, Kanetsky PA, Kiemeney LA, Lang J, Lathrop GM, Leachman S, Lee JE, Lubiński J, Mackie RM, Mann GJ, Martin NG, Mayordomo JI, Molven A, Mulder S, Nagore E, Novaković S, Okamoto I, Olafsson JH, Olsson H, Pehamberger H, Peris K, Grasa MP, Planelles D, Puig S, Puig-Butille JA; Q-MEGA and AMFS Investigators, Randerson-Moor J, Requena C, Rivoltini L, Rodolfo M, Santinami M, Sigurgeirsson B, Snowden H, Song F, Sulem P, Thorisdottir K, Tuominen R, Van Belle P, van der Stoep N, van Rossum MM, Wei Q, Wendt J, Zelenika D, Zhang M, Landi MT, Thorleifsson G, Bishop DT, Amos CI, HAYWARD NK, Stefansson K, Bishop JA, Barrett JH, the GenoMEL Consortium. A variant in FTO shows association with melanoma risk not due to BMI. Nature Genetics. 2013 Apr;45(4):428-32.

Puntervoll HE, Yang XR, Vetti HH, Bachmann IM, Avril MF, Benfodda M, Catricalà C, Dalle S, Duval-Modeste AB, Ghiorzo P, Grammatico P, Harland M, HAYWARD NK, Hu HH, Jouary T, Martin-Denavit T, Ozola A, Palmer JM, Pastorino L, Pjanova D, Soufir N, Steine SJ, Stratigos AJ, Thomas L, Tinat J, Tsao H, Veinalde R, Tucker MA, Bressac-de Paillerets B, Newton-Bishop JA, Goldstein AM, Akslen LA, Molven A. Melanoma prone families with CDK4 germline mutation: phenotypic profile and associations with MC1R variants. J Med Genet. 2013 Apr;50(4):264-70.

Liu H, Wang LE, Liu Z, Chen WV, Amos CI, Lee JE, Amfs Investigators QM, Investigators G, Iles MM, Law MH, Barrett JH, Montgomery GW, Taylor JC, Macgregor S, Newton Bishop JA, HAYWARD NK, Bishop DT, Mann GJ, Affleck P, Wei Q. Association between functional polymorphisms in genes involved in the MAPK signaling pathways and cutaneous melanoma risk. Carcinogenesis. 2013 Apr;34(4):885-92.

Hacker E, Nagore E, Cerroni L, Woods SL, HAYWARD NK, Chapman B, Montgomery GW, Soyer HP, Whiteman DC. NRAS and BRAF Mutations in Cutaneous Melanoma and the Association with MC1R Genotype: Findings from Spanish and Austrian Populations. J Invest Dermatol. 2013 Apr;133(4):1027-33.

Qian J, Liu H, Wei S, Liu Z, Li Y, Wang LE, Chen WV, Amos CI, Lee JE; GenoMEL investigators, Iles MM, Law MH; Q-MEGA and AMFS investigators, Barrett JH, Montgomery GW, Taylor J, Bishop JA, Macgregor S, Bishop DT, Mann GJ, HAYWARD NK, Wei Q. Association between putative functional variants in the PSMB9 gene and risk of melanoma – re-analysis of published melanoma genome-wide association studies. Pigment Cell Melanoma Res. 2013 May;26(3):392-401.

Nagore E, Hacker E, Martorell-Calatayud A, Traves V, Guillen C, HAYWARD NK, Whiteman D. Prevalence of BRAF and NRAS mutations in fast growing melanomas. Pigment Cell Melanoma Res. 2013 May;26(3):429-31.

Cao J, Wan L, Hacker E, Dai X, Lenna S, Jimenez-Cervantes C, Wang Y, Leslie N, Xu G, Goding C, Wildund H, Ryo B, Alani R, Dutton-Regester K, HAYWARD N, Wei W, Cui R. 2013. MC1R is a potent regulator of PTEN after UV exposure in melanocytes. Molecular Cell. 2013 Aug 22;51(4):409-22.

Gartner J, Parker S, Prickett T, Dutton-Regester K, Stitzel M, Lin J, Davis S,  Simhadri V, Jha S, Katagiri N, Gotea V, Teer J, Wei X, Morken M, Bhanot U, NISC Sequencing Program, Chen G, Elnitski L, Davies M, Gershenwald J, Carter H, Karchin R, Robinson W, Robinson S, Rosenberg S, Collins F, Parmigianni G, Komar A, Kimchi-Safarty C, HAYWARD N, Margulies E, Samuels Y. 2013. Whole genome sequencing identifies a recurrent functional synonymous mutation in melanoma. Proc. Natl Acad Sci. U S A. 2013 Aug 13;110(33):13481-6.

Aoude LG, Wadt K, Bojesen A, Crüger D, Borg A, Trent JM, Brown KM, Gerdes AM, Jönsson G, HAYWARD NK. A BAP1 Mutation in a Danish Family Predisposes to Uveal Melanoma and Other Cancers. PLoS One. 2013 Aug 19;8(8):e72144.

Cronin JC, Watkins-Chow DE, Incao AA, Hasskamp JH, Schönewolf N, Aoude L, HAYWARD NK, Bastian BC, Dummer R, Loftus SK, Pavan W. SOX10 ablation arrests the cell cycle, induces senescence and suppresses melanomagenesis. Cancer Res. 2013 Sep 15;73(18):5709-18.

Dutton-Regester K, Kakavand H, Aoude L, Stark M, Gartside M, Johansson P, O’Connor L, Lanagan C, Pupo GM, Tembe V, Haydu L, Thompson J, Schmidt C, Scolyer R, HAYWARD NK. 2013. Melanomas of unknown primary have a mutation profile consistent with cutaneous sun exposed melanoma. Pigment Cell Melanoma Res. 2013 Nov;26(6):852-60.

Hacker E, Boyce Z, Kimlin MG, Wockner L, Pollak T, Vaartjes SA, HAYWARD NK, Whiteman DC. The effect of MC1R variants and sunscreen on the response of human melanocytes in vivo to ultraviolet radiation and implications for melanoma. Pigment Cell Melanoma Res. 2013 Nov;26(6):835-44.

Ohanna M, Cheli Y, Bonet C, Bonazzi VF, Allegra M, Giuliano S, Bille K, Bahadoran P, Giacchero D, Lacour JP, Boyle GM, HAYWARD NK, Bertolotto C, Ballotti R. Secretome from senescent melanoma engages the STAT3 pathway to favor reprogramming of naive melanoma towards a tumor-initiating cell phenotype. Oncotarget. 2013 Dec;4(12):2212-24.

Zebary A, Omholt K, van Doorn R, Ghiorzo P, Harbst K, Hertzman Johansson C, Höiom V, Jönsson G, Pjanova D, Puig S, Scarra GB, Harland M, Olsson H, Egyhazi Brage S, Palmer J, Kanter-Lewensohn L, Vassilaki I, HAYWARD NK, Newton-Bishop J, Gruis NA, Hansson J. Somatic BRAF and NRAS Mutations in Familial Melanomas with Known Germline CDKN2A Status: A GenoMEL Study. J Invest Dermatol. 2014 Jan;134(1):287-90.

Prickett TD, Gartner JJ, Parker S.C.J, Dutton-Regester K, Lin JC, Teer JK, Wei X, Jiang J, NISC Comparative Sequencing Program, Chen G, Davies MA, Gershenwald JE, Robinson W, Robinson S, Carter H, Karchin R, HAYWARD NK, Rosenberg SA, Margulies EH, Samuels Y. 2013. Somatic mutations in MAP3K5 attenuate its proapoptotic function in melanoma through increased binding to thioredoxin. J. Invest. Dermatol. 2014 Feb;134(2):452-60.

Nagore E, Requena C, Traves V, Guillen C, HAYWARD NK, Whiteman DC, Hacker E. Prognostic value of BRAF mutations in localized cutaneous melanoma. J Am Acad Dermatol. 2014 May;70(5):858-62.e1-2.

Robles-Espinoza CD, Harland M, Ramsay AJ, Aoude LG, Quesada V, Ding Z, Pooley KA, Pritchard AL, Tiffen JC, Petljak M, Palmer JM, Symmons J, Johansson P, Stark MS, Gartside MG, Snowden H, Montgomery GW, Martin NG, Liu JZ, Choi J, Makowski M, Brown KM, Dunning AM, Keane TM, López-Otín C, Gruis NA, HAYWARD NK, Bishop DT, Newton-Bishop JA, Adams DJ. POT1 loss-of-function variants predispose to familial melanoma. Nature Genetics 2014 May;46(5):478-81.

Marusiak AA, Edwards ZC, Hugo W, Trotter EW, Girotti MR, Stephenson NL, Kong X, Gartside MG, Fawdar S, Hudson A, Breitwieser W, HAYWARD NK, Marais R, Lo RS, Brognard J. Mixed lineage kinases activate MEK independently of RAF to mediate resistance to RAF inhibitors. Nature Communications. 2014 May 22;5:3901.

Dutton-Regester K, Gartner JJ, Emmanuel R, Qutob N, Davies MA, Gershenwald JE, Robinson W, Robinson S, Rosenberg SA, Scolyer RA, Mann GJ, Thompson JF, HAYWARD NK, Samuels Y. A highly recurrent RPS27 5’UTR mutation in melanoma. Oncotarget. 2014 May 30;5(10):2912-7.

Aoude LG, Xu M, Zhao ZZ, Kovacs M, Palmer JM, Johansson P, Symmons J, Trent JM, Martin NG, Montgomery GW, Brown KM, HAYWARD NK. Assessment of PALB2 as a Candidate Melanoma Susceptibility Gene. PLoS One. 2014 Jun 20;9(6):e100683.

Young RJ, Waldeck K, Martin C, Foo JH, Cameron DP, Kirby L, Do H, Mitchell C, Cullinane C, Liu W, Fox SB, Dutton-Regester K, HAYWARD NK, Jene N, Dobrovic A, Pearson RB, Christensen JG, Randolph S, McArthur GA, Sheppard KE. Loss of CDKN2A expression is a frequent event in primary invasive melanoma and correlates with sensitivity to the CDK4/6 inhibitor PD0332991 in melanoma cell lines. Pigment Cell Melanoma Res. 2014 Jul;27(4):590-600.

Song F, Amos CI, Lee JE, Lian CG, Fang S, Liu H, MacGregor S, Iles MM, Law MH, Lindeman NI, Montgomery GW, Duffy DL, Cust AE, Jenkins MA, Whiteman DC, Kefford RF, Giles GG, Armstrong BK, Aitken JF, Hopper JL, Brown KM, Martin NG, Mann GJ, Bishop DT, Bishop JA; the GenoMEL consortium, Kraft P, Qureshi AA, Kanetsky PA, HAYWARD NK, Hunter DJ, Wei Q, Han J. Identification of a melanoma susceptibility locus and somatic mutation in TET2. Carcinogenesis. 2014 Sep;35(9):2097-101.

Wadt KA, Aoude LG, Johansson P, Solinas A, Pritchard A, Crainic O, Andersen MT, Kiilgaard JF, Heegaard S, Sunde L, Federspiel B, Madore J, Thompson JF, McCarthy SW, Goodwin A, Tsao H, Jönsson G, Busam K, Gupta R, Trent JM, Gerdes AM, Brown KM, Scolyer RA, HAYWARD NK. A recurrent germline BAP1 mutation and extension of the BAP1 tumor predisposition spectrum to include basal cell carcinoma. Clin Genet. 2014 Sep 15. doi: 10.1111/cge.12501. [Epub ahead of print]

Iles MM, Bishop DT, Taylor JC, HAYWARD NK, Brossard M, Cust AE, Dunning AM, Lee JE, Moses EK, Akslen LA; AMFS Investigators, Andresen PA, Avril MF, Azizi E, Scarrà GB, Brown KM, Dębniak T, Elder DE, Friedman E, Ghiorzo P, Gillanders EM, Goldstein AM, Gruis NA, Hansson J, Harland M, Helsing P, Hočevar M, Höiom V; IBD investigators, Ingvar C, Kanetsky PA, Landi MT, Lang J, Lathrop GM, Lubiński J, Mackie RM, Martin NG, Molven A, Montgomery GW, Novaković S, Olsson H, Puig S, Puig-Butille JA; QMEGA and QTWIN Investigators, Radford-Smith GL, Randerson-Moor J; SDH Study Group, van der Stoep N, van Doorn R, Whiteman DC, MacGregor S, Pooley KA, Ward SV, Mann GJ, Amos CI, Pharoah PD, Demenais F, Law MH, Newton Bishop JA, Barrett JH; GenoMEL Consortium. The effect on melanoma risk of genes previously associated with telomere length. J Natl Cancer Inst. 2014 Sep 17;106(10). pii: dju267. doi: 10.1093/jnci/dju267. Print 2014 Oct.

Barbour AP, Tang YH, Armour N, Dutton-Regester K, Krause L, Loffler KA, Lambie D, Burmeister B, Thomas J, Smithers BM, HAYWARD NK. BRAF mutation status is an independent prognostic factor for resected stage IIIB and IIIC melanoma: Implications for melanoma staging and adjuvant therapy. Eur J Cancer. 2014 Oct;50(15):2668-76.

Lu Y, Ek WE, Whiteman D, Vaughan TL, Spurdle AB, Easton DF, Pharoah PD, Thompson DJ, Dunning AM, HAYWARD NK, Chenevix-Trench G; Q-MEGA and AMFS Investigators; ANECS-SEARCH; UKOPS-SEARCH; BEACON consortium, Macgregor S. Most common ‘sporadic’ cancers have a significant germline genetic component. Hum Mol Genet. 2014 Nov 15;23(22):6112-8.

Staaf J, Harbst K, Lauss M, Ringnér M, Måsbäck A, Howlin J, Jirström K, Harland M, Zebary A, Palmer JM, Ingvar C, Olsson H, Newton-Bishop J, Hansson J, HAYWARD N, Gruis N, Jönsson G; the Melanoma Genetics Consortium (GenoMEL). Primary Melanoma Tumors from CDKN2A Mutation Carriers Do Not Belong to a Distinct Molecular Subclass. J Invest Dermatol. 2014 Dec;134(12):3000-3.

Long GV, Fung C, Menzies AM, Pupo GM, Carlino MS, Hyman J, Shahheydari H, Tembe V, Thompson JF, Saw RP, Howle J, HAYWARD NK, Johansson P, Scolyer RA, Kefford RF, Rizos H. Increased MAPK reactivation in early resistance to dabrafenib/trametinib combination therapy of BRAF-mutant metastatic melanoma. Nature Communications. 2014 Dec 2;5:5694. doi: 10.1038/ncomms6694.

Aoude LG, Pritchard AL, Robles-Espinoza CD, Wadt K, Harland M, Choi J, Gartside M, Quesada V, Johansson P, Palmer JM, Ramsay AJ, Zhang X, Jones K, Symmons J, Holland EA, Schmid H, Bonazzi V, Woods S, Dutton-Regester K, Stark MS, Snowden H, van Doorn R, Montgomery GW, Martin NG, Keane TM, López-Otín C, Gerdes AM, Olsson H, Ingvar C, Borg A, Gruis NA, Trent JM, Jönsson G, Bishop DT, Mann GJ, Newton-Bishop JA, Brown KM, Adams DJ, HAYWARD NK. Nonsense Mutations in the Shelterin Complex Genes ACD and TERF2IP in Familial Melanoma. J Natl Cancer Inst. 2014 Dec 13;107(2). pii: dju408. doi: 10.1093/jnci/dju408. Print 2015 Feb.

Ranzani M, Alifrangis C, Perna D, Dutton-Regester K, Pritchard A, Wong K, Rashid M, Robles-Espinoza CD, HAYWARD NK, McDermott U, Garnett M, Adams DJ. BRAF/NRAS wild-type melanoma, NF1 status and sensitivity to trametinib. Pigment Cell Melanoma Res. 2015 Jan;28(1):117-9.

Barrett JH, Taylor JC, Bright C, Harland M, Dunning AM, Akslen LA, Andresen PA, Avril MF, Azizi E, Bianchi Scarrà G, Brossard M, Brown KM, Dębniak T, Elder DE, Friedman E, Ghiorzo P, Gillanders EM, Gruis NA, Hansson J, Helsing P, Hočevar M, Höiom V, Ingvar C, Landi MT, Lang J, Lathrop GM, Lubiński J, Mackie RM, Molven A, Novaković S, Olsson H, Puig S, Puig-Butille JA, van der Stoep N, van Doorn R, van Workum W, Goldstein AM, Kanetsky PA, Pharoah PD, Demenais F, HAYWARD NK, Newton Bishop JA, Bishop DT, Iles MM; on behalf of the GenoMEL Consortium. Fine mapping of genetic susceptibility loci for melanoma reveals a mixture of single variant and multiple variant regions. Int J Cancer. 2015 Mar 15;136(6):1351-60.

Sargen MR, Kanetsky PA, Newton-Bishop J, HAYWARD NK, Mann GJ, Gruis NA, Tucker MA, Goldstein AM, Bianchi-Scarra G, Puig S, Elder DE. Histologic features of melanoma associated with CDKN2A genotype. J Am Acad Dermatol. 2015 Mar;72(3):496-507.

Wadt KA, Aoude LG, Krogh L, Sunde L, Bojesen A, Grønskov K, Wartacz N, Ek J, Tolstrup-Andersen M, Klarskov-Andersen M, Borg Å, Heegaard S, Kiilgaard JF, Hansen TV, Klein K, Jönsson G, Drzewiecki KT, Dunø M, HAYWARD NK, Gerdes AM. Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition. PLoS One. 2015 Mar 24;10(3):e0122662.

Aoude LG, Gartside M, Johansson P, Palmer JM, Symmons J, Martin NG, Montgomery GW, Hayward NK. Prevalence of Germline BAP1, CDKN2A, and CDK4 Mutations in an Australian Population-Based Sample of Cutaneous Melanoma Cases. Twin Res Hum Genet. 2015 Apr;18(2):126-33.

Law MH, Rowe C, Montgomery GW, HAYWARD NK, MacGregor S, Khosrotehrani K. PARP1 polymorphisms play opposing roles in melanoma occurrence and survival. Int J Cancer. 2015 May 15;136(10):2488-9.

Tembe V, Schramm SJ, Stark MS, Patrick E, Jayaswal V, Tang YH, Barbour A, HAYWARD NK, Thompson JF, Scolyer RA, Yang YH, Mann GJ. microRNA and mRNA expression profiling in metastatic melanoma reveal associations with BRAF mutation and patient prognosis. Pigment Cell Melanoma Res. 2015 May;28(3):254-66.

Pritchard AL, Hastie ML, Neller M, Gorman JJ, Schmidt CW, HAYWARD NK. Exploration of peptides bound to MHC class I molecules in melanoma. Pigment Cell Melanoma Res. 2015 May;28(3):281-94.

Stark MS, Klein K, Weide B, Haydu LE, Pflugfelder A, Tang YH, Palmer JM, Whiteman DC, Scolyer RA, Mann GJ, Thompson JF, Long GV, Barbour AP, Soyer HP, Garbe C, Herington A, Pollock PM, HAYWARD NK. The Prognostic and Predictive Value of Melanoma-related MicroRNAs Using Tissue and Serum: A MicroRNA Expression Analysis. EBioMedicine. 2015 May 12;2(7):671-80.

Kim H, Frederick DT, Levesque MP, Cooper ZA, Feng Y, Krepler C, Brill L, Samuels Y, HAYWARD NK, Perlina A, Piris A, Zhang T, Halaban R, Herlyn MM, Brown KM, Wargo JA, Dummer R, Flaherty KT, Ronai ZA. Downregulation of the Ubiquitin Ligase RNF125 Underlies Resistance of Melanoma Cells to BRAF Inhibitors via JAK1 Deregulation. Cell Reports. 2015 Jun 9;11(9):1458-73.

Wadt KA, Aoude LG, Golmard L, Hansen TV, Sastre-Garau X, HAYWARD NK, Gerdes AM. Germline RAD51B truncating mutation in a family with cutaneous melanoma. Fam Cancer. 2015 Jun;14(2):337-40.

Cancer Genome Atlas Network. Genomic Classification of Cutaneous Melanoma. Cell. 2015 Jun 18;161(7):1681-96.

Stark MS, Bonazzi VF, Boyle GM, Palmer JM, Symmons J, Lanagan CM, Schmidt CW, Herington AC, Ballotti R, Pollock PM, HAYWARD NK. miR-514a regulates the tumour suppressor NF1 and modulates BRAFi sensitivity in melanoma. Oncotarget. 2015 Jul 10;6(19):17753-63.

Tiffen JC, Gunatilake D, Gallagher SJ, Gowrishankar K, Heinemann A, Cullinane C, Dutton-Regester K, Pupo GM, Strbenac D, Yang JY, Madore J, Mann GJ, HAYWARD NK, McArthur GA, Filipp FV, Hersey P. Targeting activating mutations of EZH2 leads to potent cell growth inhibition in human melanoma by derepression of tumor suppressor genes. Oncotarget. 2015 Sep 29;6(29):27023-36.

Pritchard AL, Burel JG, Neller MA, HAYWARD NK, Lopez JA, Fatho M, Lennerz V, Wölfel T, Schmidt CW. Exome sequencing to predict neoantigens in melanoma. Cancer Immunol Res. 2015 Sep;3(9):992-8.

Law MH, Bishop DT, Lee JE, Brossard M, Martin NG, Moses EK, Song F, Barrett JH, Kumar R, Easton DF, Pharoah PD, Swerdlow AJ, Kypreou KP, Taylor JC, Harland M, Randerson-Moor J, Akslen LA, Andresen PA, Avril MF, Azizi E, Scarrà GB, Brown KM, Dȩbniak T, Duffy DL, Elder DE, Fang S, Friedman E, Galan P, Ghiorzo P, Gillanders EM, Goldstein AM, Gruis NA, Hansson J, Helsing P, Hočevar M, Höiom V, Ingvar C, Kanetsky PA, Chen WV; GenoMEL Consortium; Essen-Heidelberg Investigators; SDH Study Group; Q-MEGA and QTWIN Investigators; AMFS Investigators; ATHENS Melanoma Study Group, Landi MT, Lang J, Lathrop GM, Lubiński J, Mackie RM, Mann GJ, Molven A, Montgomery GW, Novaković S, Olsson H, Puig S, Puig-Butille JA, Qureshi AA, Radford-Smith GL, van der Stoep N, van Doorn R, Whiteman DC, Craig JE, Schadendorf D, Simms LA, Burdon KP, Nyholt DR, Pooley KA, Orr N, Stratigos AJ, Cust AE, Ward SV, HAYWARD NK, Han J, Schulze HJ, Dunning AM, Bishop JA, Demenais F, Amos CI, MacGregor S, Iles MM. Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma. Nature Genet. 2015 Sep;47(9):987-95.

Rowe CJ, Law MH, Palmer JM, MacGregor S, HAYWARD NK, Khosrotehrani K. Survival outcomes in patients with multiple primary melanomas. J Eur Acad Dermatol Venereol. 2015 Nov;29(11):2120-7.

Aoude LG, Heitzer E, Johansson P, Gartside M, Wadt K, Pritchard AL, Palmer JM, Symmons J, Gerdes AM, Montgomery GW, Martin NG, Tomlinson I, Kearsey S, HAYWARD NK. POLE mutations in families predisposed to cutaneous melanoma. Fam Cancer. 2015 Dec;14(4):621-8.

Wilmott JS, Field MA, Johansson PA, Kakavand H, Shang P, De Paoli-Iseppi R, Vilain RE, Pupo GM, Tembe V, Jakrot V, Shang CA, Cebon J, Shackleton M, Fitzgerald A, Thompson JF, HAYWARD NK, Mann GJ, Scolyer RA. Tumour procurement, DNA extraction, coverage analysis and optimisation of mutation-detection algorithms for human melanoma genomes. Pathology. 2015 Dec;47(7):683-93.

Arafeh R, Qutob N, Emmanuel R, Keren-Paz A, Madore J, Elkahloun A, Wilmott JS, Gartner JJ, Di Pizio A, Winograd-Katz S, Sindiri S, Rotkopf R, Dutton-Regester K, Johansson P, Pritchard AL, Waddell N, Hill VK, Lin JC, Hevroni Y, Rosenberg SA, Khan J, Ben-Dor S, Niv MY, Ulitsky I, Mann GJ, Scolyer RA, HAYWARD NK, Samuels Y. Recurrent inactivating RASA2 mutations in melanoma. Nature Genet. 2015 Dec;47(12):1408-10.

Harland M, Petljak M, Robles-Espinoza CD, Ding Z, Gruis NA, van Doorn R, Pooley KA, Dunning AM, Aoude LG, Wadt KA, Gerdes AM, Brown KM, HAYWARD NK, Newton-Bishop JA, Adams DJ, Bishop DT. Germline TERT promoter mutations are rare in familial melanoma. Fam Cancer. 2016 Jan;15(1):139-44.

Johansson P, Aoude LG, Wadt K, Glasson WJ, Warrier SK, Hewitt AW, Kiilgaard JF, Heegaard S, Isaacs T, Franchina M, Ingvar C, Vermeulen T, Whitehead KJ, Schmidt CW, Palmer JM, Symmons J, Gerdes AM, Jönsson G, HAYWARD NK. Deep sequencing of uveal melanoma identifies a recurrent mutation in PLCB4. Oncotarget. 2016 Jan 26;7(4):4624-31.

De Paoli-Iseppi R, Johansson PA, Menzies AM, Dias KR, Pupo GM, Kakavand H, Wilmott JS, Mann GJ, HAYWARD NK, Dinger ME, Long GV, Scolyer RA. Comparison of whole-exome sequencing of matched fresh and formalin fixed paraffin embedded melanoma tumours: implications for clinical decision making. Pathology. 2016 Apr;48(3):261-6.

Hacker E, Olsen CM, Kvaskoff M, Pandeya N, Yeo A, Green AC, Williamson RM, Triscott J, Wood D, Mortimore R, HAYWARD NK, Whiteman DC. Histologic and Phenotypic Factors and MC1R Status Associated with BRAF(V600E), BRAF(V600K), and NRAS Mutations in a Community-Based Sample of 414 Cutaneous Melanomas. J Invest Dermatol. 2016 Apr;136(4):829-37.

Read J, Symmons J, Palmer JM, Montgomery GW, Martin NG, HAYWARD NK. Increased incidence of bladder cancer, lymphoid leukaemia, and myeloma in a cohort of Queensland melanoma families. Fam Cancer. 2016 Apr 23. [Epub ahead of print]

Taylor NJ, Handorf EA, Mitra N, Avril MF, Azizi E, Bergman W, Bianchi-Scarrà G, Bishop DT, Bressac-de Paillerets B, Calista D, Cannon-Albright LA, Cuellar F, Cust AE, Demenais F, Elder DE, Friedman E, Gerdes AM, Ghiorzo P, Goldstein AM, Grazziotin TC, Hansson J, HAYWARD NK, Hocevar M, Höiom V, Holland EA, Ingvar C, Landi MT, Landman G, Larre-Borges A, Leachman SA, Mann GJ, Nagore E, Olsson H, Palmer J, Perić B, Pjanova D, Puig S, Schmid H, van der Stoep N, Tucker MA, Wadt KA, Whitaker L, Yang XR, Newton Bishop JA, Gruis NA, Kanetsky PA; GenoMEL Consortium. Phenotypic and Histopathological Tumor Characteristics According to CDKN2A Mutation Status among Affected Members of Melanoma Families. J Invest Dermatol. 2016 May;136(5):1066-9.

Claps G, Cheli Y, Zhang T, Scortegagna M, Lau E, Kim H, Qi J, Li JL, James B, Dzung A, Levesque MP, Dummer R, HAYWARD NK, Bosenberg M, Brown KM, Ronai ZA. A Transcriptionally Inactive ATF2 Variant Drives Melanomagenesis. Cell Rep. 2016 May 31;15(9):1884-92.

Stark MS, Tom LN, Boyle GM, Bonazzi VF, Soyer HP, Herington AC, Pollock PM, HAYWARD NK. The ‘Melanoma-enriched’ microRNA miR-4731-5p acts as a tumour suppressor. Oncotarget. 2016 Jun 16. doi: 10.18632/oncotarget.10109. [Epub ahead of print]

Rowe CJ, Tang F, Hughes MC, Rodero MP, Malt M, Lambie D, Barbour A, HAYWARD NK, Smithers BM, Green AC, Khosrotehrani K. Molecular markers to complement sentinel node status in predicting survival in patients with high-risk locally invasive melanoma. Int J Cancer. 2016 Aug 1;139(3):664-72.

INVITED REVIEWS

Dutton-Regester K, HAYWARD NK. Reviewing the somatic genetics of melanoma: from current to future analytical approaches. Pigment Cell Melanoma Res. 2012 Mar;25(2):144-54.

Bonazzi VF, Stark MS, HAYWARD NK. MicroRNA regulation of melanoma progression. Melanoma Res. 2012 Apr;22(2):101-13.

Law M, MacGregor S, HAYWARD NK. Melanoma genetics: recent findings take us beyond well travelled pathways. J Invest Dermatol. 2012 Jul;132(7):1763-74.

Dutton-Regester K, HAYWARD NK. Whole genome and exome sequencing of melanoma: a step toward personalized targeted therapy. Adv Pharmacol. 2012;65:399-435.

Pritchard AL, HAYWARD NK. Molecular Pathways: MAP kinase pathway mutations and drug resistance. Clin Cancer Res. 2013 May 1;19(9):2301-9.

Robles-Espinoza CD, Del Castillo Velasco-Herrera M, HAYWARD NK, Adams DJ. Telomere-regulating Genes and the Telomere Interactome in Familial Cancers. Mol Cancer Res. 2015 Feb;13(2):211-22.

Aoude LG, Wadt KA, Pritchard AL, HAYWARD NK. Genetics of Familial Melanoma: 20 years after CDKN2A. Pigment Cell Melanoma Res. 2015 Mar;28(2):148-60.

Read J, Wadt KA, HAYWARD NK. Melanoma genetics. J Med Genet. 2016 Jan;53(1):1-14.

Zhang T, Dutton-Regester K, Brown KM, HAYWARD NK. The genomic landscape of cutaneous melanoma. Pigment Cell Melanoma Res. 2016 May;29(3):266-83.