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Massachusetts General Hospital

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Our institution

Massachusetts General Hospital
55 Fruit Street
Boston, MA 02114; USA

Our group

Massachusetts General Hospital Melanoma Genetics ProgramTitle and address of our group

Hensin Tsao, MD PhD, Director
Department of Dermatology
Bartlett 622
48 Blossom Street
Boston, MA 02114

The Group leader

Hensin Tsao, MD PhD
Director
Department of Dermatology
Massachusetts General Hospital Melanoma Genetics Program
Bartlett 622
48 Blossom Street
Boston, MA 02114

Phone: 617-726-9569
Fax: 617-724-2745
Email: tsao.hensin@mgh.harvard.edu

The Massachusetts General Hospital Pigmented Lesion Center (MGH PLC).
The MGH PLC is the oldest continuously-operational multidisciplinary melanoma group in the United States. Established in 1966 by Dr. Thomas B. Fitzpatrick (Dermatology), Dr. John Raker (Surgery), Dr. Wallace Clark and Dr. Martin C. Mihm (Pathology), the MGH PLC was created to advance understanding of a relatively rare cancer at that time- cutaneous melanoma. The MGH PLC is co-directed by Drs. Arthur J Sober and Hensin Tsao and remains the major center for melanoma patient care for the New England area and the site of active ongoing melanoma research. The MGH PLC shares a seat with many other international melanoma centers on the World Health Organization Melanoma Programme.

As a care center, the MGH PLC evaluates over 200-300 new melanoma patients per year and attends to over 3000 visits. Additional patients are also treated and managed in the medical and surgical oncology units as well as within surgery. As a teaching site, the MGH PLC trains dermatology residents from Harvard Medical School and other rotating residents and students, postgraduate dermatopathology fellows and fully-trained physicians from around the world interested in melanocytic tumors.

The Massachusetts General Hospital Melanoma Genetics Program

In 2000, the MGH Cancer Center initiated a core group of cancer genetics programs dedicated to the research and management of patients with hereditary malignancies. The Melanoma Genetics Program emerged from this initiative and is fully integrated into the MGH PLC. The Melanoma Genetics Program provides genetic counseling services for melanoma patients and coordinates genetics research utilizing the rich patient population. The Melanoma Genetics Program is comprised of Dr. Hensin Tsao, a molecular geneticist researcher and dermatologist, Ms. Lauren Carpiniello, a genetics counselor and Dr. Arthur J. Sober, a melanoma clinical researcher and dermatologist.

Related Links

MGH Center for Cancer Risk Analysis; Melanoma Genetics Program
www.cancer.mgh.harvard.edu/cancer_riskanalysis_clinicalresearch.htm

MGH Melanoma and Pigmented Lesion Center; Melanoma Center
http://www.mgh.harvard.edu/mghdermatology/services/pigmented_lesion_center.htm

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

Director

Hensin Tsao, MD, PhD
Molecular geneticist, dermatologist
Email: tsao.hensin@mgh.harvard.edu

Lauren Marie Carpiniello
Senior Genetic Counselor
Email: lcarpiniello@partners.org

Arthur J. Sober, MD
Dermatologist
Email: asober@partners.org

Publications

Tsao H, Sober AJ.
Ultraviolet radiation and malignant melanoma.
Clin Dermatol. 1998 Jan-Feb; 16(1): 67-73. Review.

Tsao H, Benoit E, Sober AJ, Thiele C, Haluska FG.
Novel mutations in the p16/CDKN2A binding region of the cyclin-dependent kinase-4 gene.
Cancer Res. 1998 Jan 1; 58(1): 109-13.

Tsao H, Rogers GS, Sober AJ.
An estimate of the annual direct cost of treating cutaneous melanoma
J Am Acad Dermatol. 1998 May; 38(5 Pt 1): 669-80.

Tsao H, Zhang X, Benoit E, Haluska FG.
Identification of PTEN/MMAC1 alterations in uncultured melanomas and melanoma cell lines.
Oncogene. 1998 Jul 2; 16(26): 3397-402.

Tsao H, Zhang X, Majewski P, Haluska FG.
Mutational and expression analysis of the p73 gene in melanoma cell lines.
Cancer Res 1999; 59: 172-174.

Tsao H, Zhang X, Fowlkes K, Haluska FG.
Relative reciprocity of NRAS and PTEN/MMAC1 alterations in cutaneous melanoma cell lines.
Cancer Res. 2000 Apr 1; 60(7): 1800-4.

Tsao H, Zhang X, Kwitkiwski K, Finkelstein DM, Sober AJ, Haluska FG.
Low prevalence of germline CDKN2A and CDK4 mutations in patients with early onset melanoma.
Arch Dermatol. 2000 Sep; 136(9): 1118-22.

Tsao H. CME
Article: Update on familial cancer syndromes and the skin.
J Am Acad Dermatol 2000; 42: 939-969.

Tsao H, Nadiminti U, Sober AJ, Bigby M.
A meta-analysis of reverse transcriptase-polymerase chain reaction (RT-PCR) for tyrosinase mRNA as a marker for circulating tumor cells in cutaneous melanoma.
Arch Dermatol, 2001; 137:325-330.

Goggins W, Finkelstein D, Tsao H.
Evidence for an association between cutaneous melanoma and non-Hodgkin’s lymphoma.
Cancer, 2001; 91:874-80.

Niendorf KB, Shannon KM. The role of genetic testing and effect on patient care. Arch Dermatol. 2001 Nov;137(11):1515-9. 11. Sober AJ, Chuang TY, Duvic M, Farmer ER, Grichnik JM, Halpern AC, Ho V, Holloway V, Hood AF, Johnson TM, Lowery BJ;
Guidelines/Outcomes Committee. Guidelines of care for primary cutaneous melanoma.
J Am Acad Dermatol. 2001 Oct;45(4):579-86.

Tsao H.
Genetics of non-melanoma skin cancer.
Arch Dermatol; 2001; 137: 1486-1492

Tsao H, Kwitkiwski K, Sober AJ.
A single-institution case series of patients with cutaneous melanoma and non-Hodgkin’s lymphoma.
J Am Acad Dermatol; 2002; 46:55-61

Tsao H, Millman P, Linette GP, Hodi FS, Sober AJ, Goldberg MA, Haluska FG.
Hypopigmentation associated with an adenovirus-mediated gp100/MART-1-transduced dendritic cell vaccine for metastatic melanoma.
Arch Dermatol. 2002;138:799-802.

Goggins WB, Tsao H.
A population-based analysis of risk factors for a second primary cutaneous melanoma among melanoma survivors.
Cancer 2003;97:639-43

Tsao H, Bevona C, Goggins W, Quinn T.
The transformation rate of moles (melanocytic nevi) into cutaneous melanoma.
Arch Dermatol 2003;139:282-8.

Tsao H, Mihm MC, Sheehan C.
PTEN expression in normal skin, acquired melanocytic nevi and cutaneous melanoma.
J Am Acad Dermatol 2003; 49(5):865-72

Bevona C, Goggins W, Quinn T, Fullerton J, Tsao H.
Cutaneous melanomas associated with nevi.
Arch Dermatol 2003;139:1620-4

[21]. Bevona C, Sober AJ, Tsao H Chapter 15.
Childhood melanoma. In: Balch C, Houghton AN, Sober AJ, Soong SJ, eds. Cutaneous Melanoma 6th Edition.
St Louis: Quality Medical Publishing, Inc, 2003: 309-318

Tsao H, Sober AJ. Chapter 91.
Atypical Melanocytic Nevi. In: Fitzpatrick TB, et al, eds. Fitzpatrick’s Dermatology in General Medicine, 6th Edition.
New York, NY: McGraw Hill, Inc., 2003: 906-916

Tsao H, Feldman M, Fullerton JE, Sober AJ, Rosenthal D, Goggins W.
Early detection of asymptomatic pulmonary melanoma metastases by routine chest radiographs is not associated with improved survival.
Arch Dermatol 2004;140:67-70.

Tsao H, Goel V, Wu H, Yang G, Haluska FG.
Genetic interaction between NRAS and BRAF mutations and PTEN/MMAC1 inactivation in melanoma.
J Invest Dermatol. 2004 Feb; 122(2): 337-41.

Goggins W, Gao W, Tsao H.
Association between female breast cancer and cutaneous melanoma.
Int J Cancer. 2004 Sep 20; 111(5): 792-4.

Yang G, Niendorf KB, Tsao H.
A novel methionine-53-valine mutation of p16 in a hereditary melanoma kindred.
J Invest Dermatol. 2004 Sep; 123(3): 574-5.

Tsao H, Atkins MB, Sober AJ.
Management of cutaneous melanoma.
N Engl J Med. 2004 Sep 2; 351(10): 998-1012. Review. Erratum in: N Engl J Med. 2004 Dec 2; 351(23): 2461.

Tsai KY, Tsao H.
The genetics of skin cancer.
Am J Med Genet C Semin Med Genet. 2004 Nov 15; 131C(1): 82-92. Review.

Tsao H, Niendorf K.
Genetic testing in hereditary melanoma.
J Am Acad Dermatol. 2004 Nov; 51(5): 803-8. Review.

Niendorf KB, Goggins W, Yang G, Tsai KY, Shennan M, Bell DW, Sober AJ, Hogg D, Tsao H.
MELPREDICT: a logistic regression model to estimate CDKN2A carrier probability.
J Med Genet. 2006 Jun; 43(6): 501-6. Epub 2005 Sep 16.

Yang G, Rajadurai A, Tsao H.
Recurrent patterns of dual RB and p53 pathway inactivation in melanoma.
J Invest Dermatol. 2005 Dec;125(6):1242-51.

Niendorf KB, Tsao H.
Cutaneous melanoma: family screening and genetic testing.
Dermatol Ther. 2006 Jan-Feb; 19(1): 1-8. Review.

Haluska FG, Tsao H, Wu H, Haluska FS, Lazar A, Goel V.
Genetic alterations in signaling pathways in melanoma.
Clin Cancer Res. 2006 Apr 1; 12(7 Pt 2): 2301s-2307s. Review.

Yang G, Zhang G, Pittelkow MR, Ramoni M, Tsao H.
Expression profiling of UVB response in melanocytes identifies a set of p53-target genes.
J Invest Dermatol. 2006 Nov; 126(11): 2490-506. Epub 2006 Aug 3.

Goldstein AM, Chan M, Harland M, Hayward NK, Demenais F, Bishop DT, Azizi E, Bergman W, Bianchi-Scarra G, Bruno W, Calista D, Albright LA, Chaudru V, Chompret A, Cuellar F, Elder DE, Ghiorzo P, Gillanders EM, Gruis NA, Hansson J, Hogg D, Holland EA, Kanetsky PA, Kefford RF, Landi MT, Lang J, Leachman SA, MacKie RM, Magnusson V, Mann GJ, Bishop JN, Palmer JM, Puig S, Puig-Butille JA, Stark M, Tsao H, Tucker MA, Whitaker L, Yakobson E; Lund Melanoma Study Group; Melanoma Genetics Consortium (GenoMEL).
Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents.
J Med Genet. 2007 Feb; 44(2): 99-106. Epub 2006 Aug 11.

Goldstein AM, Chan M, Harland M, Gillanders EM, Hayward NK, Avril MF, Azizi E, Bianchi-Scarra G, Bishop DT, Bressac-de Paillerets B, Bruno W, Calista D, Cannon Albright LA, Demenais F, Elder DE, Ghiorzo P, Gruis NA, Hansson J, Hogg D, Holland EA, Kanetsky PA, Kefford RF, Landi MT, Lang J, Leachman SA, Mackie RM, Magnusson V, Mann GJ, Niendorf K, Newton Bishop J, Palmer JM, Puig S, Puig-Butille JA, de Snoo FA, Stark M, Tsao H, Tucker MA, Whitaker L, Yakobson E; Melanoma Genetics Consortium (GenoMEL).
High-risk melanoma susceptibility genes and pancreatic cancer, neural system tumors, and uveal melanoma across GenoMEL.
Cancer Res. 2006 Oct 15; 66(20): 9818-28.

Lang J, Hayward N, Goldgar D, Tsao H, Hogg D, Palmer J, Stark M, Tobias ES, MacKie R.
The M53I mutation in CDKN2A is a founder mutation that predominates in melanoma patients with Scottish ancestry.
Genes Chromosomes Cancer. 2007 Mar; 46(3): 277-87.

Hocker T, Tsao H.
Ultraviolet radiation and melanoma: a systematic review and analysis of reported sequence variants.
Hum Mutat. 2007 Jun; 28(6): 578-88. Review.

Yang G, Curley D, Bosenberg MW, Tsao H.
Loss of xeroderma pigmentosum C (Xpc) enhances melanoma photocarcinogenesis in Ink4a-Arf-deficient mice.
Cancer Res. 2007 Jun 15; 67(12): 5649-57.

Singh M, Lin J, Hocker TL, Tsao H.
Genetics of melanoma tumorigenesis.
Br J Dermatol. 2008 Jan; 158(1): 15-21. Epub 2007 Nov 28. Review.

Zhang G, Njauw CN, Park JM, Naruse C, Asano M, Tsao H.
EphA2 is an essential mediator of UV radiation-induced apoptosis.
Cancer Res. 2008 Mar 15; 68(6): 1691-6.

Harland M, Goldstein AM, Kukalizch K, Taylor C, Hogg D, Puig S, Badenas C, Gruis N, Ter Huurne J, Bergman W, Hayward NK, Stark M, Tsao H, Tucker MA, Landi MT, Scarra GB, Ghiorzo P, Kanetsky PA, Elder D, Mann GJ, Holland EA, Bishop DT, Newton Bishop J; members of GenoMEL, the Melanoma Genetics Consortium.
A comparison of CDKN2A mutation detection within the Melanoma Genetics Consortium (GenoMEL).
Eur J Cancer. 2008 Jun; 44(9): 1269-1274. Epub 2008 Apr 3.

Lin J, Hocker TL, Singh M, Tsao H.
Genetics of melanoma predisposition.
Br J Dermatol. 2008 Jun 11.

Sun BK, Tsao H.
X-Chromosome Inactivation and Skin Disease.
J Invest Dermatol. 2008 May 29. [Epub ahead of print]

Lund Melanoma Study Group

Our group

Lund Melanoma Study Group

Group leaders

Håkan Olsson MD PHD

Christian Ingvar, MD PhD

Åke Borg MD PhD

The melanoma group in Lund is directed towards understanding the genetic and environmental epidemiology of susceptibility to melanoma and its tumour biology and prognosis.  The multidisciplinary group, that involves oncologists, surgeons, dermatologist, statistician, pathologists, and molecular biologist, has investigated among other things the role of constitutional factors (hair colour, eye colour, freckling, number of nevi), sun exposure, other sources of UV exposure (sunbeds) and genetic factors of melanoma. The Swedish founder mutation, ins 113 Arg, was first described by our group. Large case control and cohorts studies as well as biobanks of blood and tumour tissue makes a strong foundation for ongoing and future studies. Regurlarly this information is linked to data from population based registries such as Cancer Registry data and Cause of Death Registry data. A large number of families with familial/hereditary melanoma have been collected and special groups as patients with multiple tumours and ocular melanomas are the scope of present studies.

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

Principal researchers

Anna Måsbäck MD PhD

Kari Nielsen MD

Nils Jonsson MD PhD

Lotta Lundgren MD PhD

Johan Westerdahl MD PhD

Anna Bladström

Statistician

Therese Sandberg

Lab technician

Göran Jönsson PhD

Research nurse

Anita Smith Casslen

Research secretary

Ingrid Mårtensson

Publications

Westerdahl J, Olsson H, Måsbäck A, Ingvar C, Jonsson N, Brandt L, et al.
The use of sunbeds/sunlamps and malignant melanoma in southern Sweden.
Am J Epidemiol 1994;140:691-696.

Borg Å, Johannsson O, Westerdahl J, Måsbäck A, Olsson H, Ingvar C.
Novel germline mutation in the p16/CDKN2/MTS1 gene in familial malignant melanoma in south Sweden.
Cancer Research 1996;56(June 1):2497-2500.

Borg Å, Sandberg T, Nilsson K, Johanssson O, Klinker M, Måsbäck A, et al.
High frequency of multiple melanoma, breast and pancreas cancer in CDKN2 mutation positive families.
JNCI 2000;92:1260-1266.

Nielsen K, Ingvar C, Måsbäck A, Westerdahl J, Borg Å, Sandberg T, Olsson H.
Melanoma and non-melanoma skin cancer in patients with four or more tumours – a population based study.
Br J Dermatology 2004;150 (3)(March):531-536.

Westerdahl J, Måsbäck A, Ingvar C, Olsson H.
Sunscreen use and malignant melanoma.
Int J Cancer 2000;87:145-150.

Jönsson G, Bendahl PO, Sandberg T, Kurbasic A, Staaf J, Sunde L, Cruger D, Ingvar C, Olsson H, Borg Å.
Mapping of a novel ocular and cutaneous malignant melanoma susceptibiligy locus to chromosome 9q21.32.
Journal of the National Cancer Institute 1005; 97; 1377-1388.

Instituto Valenciano de Oncologia

Instituto Valenciano de Oncología
Department of Dermatology, c/ Professor Beltrán Báguena, 8; 46009 Valencia, Spain

T: +34961114015

Website
www.ivo.es/homes/index/language:eng

Group Leader

Professor Eduardo Nagore, M.D., Ph.D.
Section Chief
Department of Dermatology
eduardo_nagore@ono.com

Group Members

Professor Rajiv Kumar (r.kumar@dkfz-heidelberg.de) – German Cancer Research Center in Heidelberg, Germany.
Dr Zaida García-Casado (zaida.garcia18@gmail.com) – Senior Scientific Officer
Dr Celia Requena (celiareq@hotmail.com) – Senior Scientific Officer
Arantxa Rodríguez (arantxaroher@gmail.com) – Research Nurse

Research

The group is established in the city of Valencia, the capital of the region of Valencia, Spain. The region is in the Eastern coast of Spain. The group includes Prof. Rajiv Kumar’s group from Heidelberg, Germany, who leads the study of low penetrance genes in the cohort.

The center is an oncology hospital which takes referrals for genetic testing of melanoma from the region, with a catchment population of 5 million inhabitants.

Routine analyses of CDKN2A, CDK4, MITF and MC1R is performed for families fulfilling the criteria for familial melanoma in a low melanoma incident region.

Melanoma Research

In the melanoma group, lead by Professor Eduardo Nagore, we have the following research areas:

  • Study of high penetrance genes in familial melanoma and patients with multiple primary melanomas (in collaboration with NCI/NIH, Dr. Maria Teresa Landi). We have a series of 160 families.
  • Study of low/intermediate penetrance genes in sporadic melanomas (in collaboration with Prof Rajiv Kumar): we have a cohort of 2000 cases with full information about phenotype and environmental factors.
  • Study of prognostic factors for survival, including germline (BioGenoMEL group) and somatic genetic alterations (in collaboration with Prof Rajiv Kumar). The cohort data include full information about survival, updated in a daily basis and confirmed by checking the National Mortality Registry.
  • Study of Spitzoid tumors (lead by Dr Requena).
  • Identification of second malignancies in melanoma survivors.
  • Study of low/intermediate penetrance genes in sporadic melanomas (in collaboration with NCI/NIH, Dr. Maria Teresa Landim and Prof Rajiv Kumar): we have a cohort of approximately 2000 cases with full information about phenotype and environmental factors.

Information for families from Spain

The center offers facilities for the study of families from other regions of Spain, either by genetic testing or genetic counselling.

Publications

Related to melanoma predisposition:

1: Nagore E, Reyes-Garcia D, Heidenreich B, Garcia-Casado Z, Requena C, Kumar R.TERT promoter mutations associate with MC1R variants in melanoma patients.Pigment Cell Melanoma Res. 2016 Dec 8. doi: 10.1111/pcmr.12567. [Epub ahead of print] PubMed PMID: 27930874.

2: Hernández-Ostiz S, Pérez-Ramada MD, Ortiz B, Requena C, Ribas G, Aznar E,Nagore E. 25-Hydroxyvitamin D in Patients With Melanoma and Factors Associated With Inadequate Levels. Actas Dermosifiliogr. 2016 Nov;107(9):758-764. dos: 10.1016/j.ad.2016.06.002. English, Spanish. PubMed PMID: 27418183.

3: Tagliabue E, Gandini S, García-Borrón JC, Maisonneuve P, Newton-Bishop J, Polsky D, Lazovich D, Kumar R, Ghiorzo P, Ferrucci L, Gruis NA, Puig S, Kanetsky PA, Motokawa T, Ribas G, Landi MT, Fargnoli MC, Wong TH, Stratigos A, Helsing P, Guida G, Autier P, Han J, Little J, Sera F, Raimondi S; M-SKIP Study group. Association of Melanocortin-1 Receptor Variants with Pigmentary Traits in Humans: A Pooled Analysis from the M-Skip Project. J Invest Dermatol. 2016 Sep;136(9):1914-7. doi: 10.1016/j.jid.2016.05.099. PubMed PMID: 27251790.

4: 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. doi: 10.1016/j.jid.2016.01.009. PubMed PMID:
26827760.

5: Espinosa P, Pfeiffer RM, García-Casado Z, Requena C, Landi MT, Kumar R, Nagore Risk factors for keratinocyte skin cancer in patients diagnosed with melanoma,a large retrospective study. Eur J Cancer. 2016 Jan;53:115-24. dos:10.1016/j.ejca.2015.10.058. PubMed PMID: 26702765.

6: Puig S, Potrony M, Cuellar F, Puig-Butille JA, Carrera C, Aguilera P, Nagore E, Garcia-Casado Z, Requena C, Kumar R, Landman G, Costa Soares de Sá B, Gargantini Rezze G, Facure L, de Avila AL, Achatz MI, Carraro DM, Duprat Neto JP, Grazziotin TC, Bonamigo RR, Rey MC, Balestrini C, Morales E, Molgo M, Bakos RM,Ashton-Prolla P, Giugliani R, Larre Borges A, Barquet V, Pérez J, Martínez M, Cabo H, Cohen Sabban E, Latorre C, Carlos-Ortega B, Salas-Alanis JC, Gonzalez R, Olazaran Z, Malvehy J, Badenas C. Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma. Genet Med. 2016 Jul;18(7):727-36. doi: 10.1038/gim.2015.160. PubMed PMID: 26681309; PubMed Central PMCID: PMC4940430.

7: Tagliabue E, Fargnoli MC, Gandini S, Maisonneuve P, Liu F, Kayser M, Nijsten T, Han J, Kumar R, Gruis NA, Ferrucci L, Branicki W, Dwyer T, Blizzard L, Helsing P, Autier P, García-Borrón JC, Kanetsky PA, Landi MT, Little J, Newton-Bishop J, Sera F, Raimondi S; M-SKIP Study Group.. MC1R gene variants and non-melanoma skin cancer: a pooled-analysis from the M-SKIP project. Br J Cancer. 2015 Jul 14;113(2):354-63. doi: 10.1038/bjc.2015.231. PubMed PMID: 26103569; PubMed Central PMCID: PMC4506395.

8: Márquez-Rodas I, Martín González M, Nagore E, Gómez-Fernández C, Avilés-Izquierdo JA, Maldonado-Seral C, Soriano V, Majem-Tarruella M, Palomar V, Maseda R, Martín-Carnicero A, Puertolas T, Godoy E, Cerezuela P, Ochoa de Olza M, Campos B, Perez-Ruiz E, Soria A, Gil-Arnaiz I, Gonzalez-Cao M, Galvez E, Arance A, Belon J, de la Cruz-Merino L, Martín-Algarra S; Spanish Multidisciplinary Group of Melanoma (GEM).. Frequency and characteristics of familial melanoma in Spain: the FAM-GEM-1 Study. PLoS One. 2015 Apr 13;10(4):e0124239. dos: 10.1371/journal.pone.0124239. PubMed PMID: 25874698; PubMed Central PMCID: PMC4395344.

9: Cust AE, Pickles KM, Goumas C, Vu T, Schmid H, Nagore E, Kelly J, Aitken JF, Giles GG, Hopper JL, Jenkins MA, Mann GJ. Accuracy of self-reported nevus and pigmentation phenotype compared with clinical assessment in a population-based study of young Australian adults. Cancer Epidemiol Biomarkers Prev. 2015 Apr;24(4):736-43. doi: 10.1158/1055-9965.EPI-14-1203. PubMed PMID: 25628333; PubMed Central PMCID: PMC4698346.

10: Montero I, Requena C, Traves V, García-Casado Z, Kumar R, Nagore E. Age-related characteristics of cutaneous melanoma in a Spanish Mediterranean population. Int J Dermatol. 2015 Jul;54(7):778-84. doi: 10.1111/ijd.12496. PubMed PMID: 25771683.

11: Bertolin M, Cercatto MC, Requena C, Serra-Guillen C, Llombart B, Sanmartin O, Guillen C, Nagore E. Awareness, Attitude, and Adherence to Preventive Measures in Patients at High Risk of Melanoma. A Cross-Sectional Study on 185 Patients. J Cancer Educ. 2015 Sep;30(3):552-66. doi: 10.1007/s13187-014-0766-z. PubMed PMID: 25510366.

12: Ibarrola-Villava M, Kumar R, Nagore E, Benfodda M, Guedj M, Gazal S, Hu HH, Guan J, Rachkonda PS, Descamps V, Basset-Seguin N, Bensussan A, Bagot M, Saiag P, Schadendorf D, Martin-Gonzalez M, Mayor M, Grandchamp B, Ribas G, Soufir N. Genes involved in the WNT and vesicular trafficking pathways are associated with melanoma predisposition. Int J Cancer. 2015 May 1;136(9):2109-19. dos: 10.1002/ijc.29257. PubMed PMID: 25303718.

13: Pasquali E, García-Borrón JC, Fargnoli MC, Gandini S, Maisonneuve P, Bagnardi V, Specchia C, Liu F, Kayser M, Nijsten T, Nagore E, Kumar R, Hansson J, Kanetsky PA, Ghiorzo P, Debniak T, Branicki W, Gruis NA, Han J, Dwyer T, Blizzard L, Landi MT, Palmieri G, Ribas G, Stratigos A, Council ML, Autier P, Little J, Newton-Bishop J, Sera F, Raimondi S; M-SKIP Study Group.. MC1R variants increased the risk of sporadic cutaneous melanoma in darker-pigmented Caucasians: a pooled-analysis from the M-SKIP project. Int J Cancer. 2015 Feb 1;136(3):618-31. doi: 10.1002/ijc.29018. PubMed PMID: 24917043; PubMed Central PMCID: PMC4378685.

14: Arroyo-Berdugo Y, Alonso S, Ribas G, Ibarrola-Villava M, Peña-Chilet M, Martínez-Cadenas C, Gardeazabal J, Ratón-Nieto JA, Sánchez-Díez A, Careaga JM, Pérez-Yarza G, Carretero G, Martín-González M, Gómez-Fernández C, Nagore E, Asumendi A, Boyano MD. Involvement of ANXA5 and ILKAP in susceptibility to malignant melanoma. PLoS One. 2014 Apr 17;9(4):e95522. dos: 10.1371/journal.pone.0095522. PubMed PMID: 24743186; PubMed Central PMCID: PMC3990692.

15: Shi J, Yang XR, Ballew B, Rotunno M, Calista D, Fargnoli MC, Ghiorzo P, Bressac-de Paillerets B, Nagore E, Avril MF, Caporaso NE, McMaster ML, Cullen M, Wang Z, Zhang X; NCI DCEG Cancer Sequencing Working Group.; NCI DCEG Cancer Genomics Research Laboratory.; French Familial Melanoma Study Group., Bruno W, Pastorino L, Queirolo P, Banuls-Roca J, Garcia-Casado Z, Vaysse A, Mohamdi H, Riazalhosseini Y, Foglio M, Jouenne F, Hua X, Hyland PL, Yin J, Vallabhaneni H, Chai W, Minghetti P, Pellegrini C, Ravichandran S, Eggermont A, Lathrop M, Peris K, Scarra GB, Landi G, Savage SA, Sampson JN, He J, Yeager M, Goldin LR, Demenais F, Chanock SJ, Tucker MA, Goldstein AM, Liu Y, Landi MT. Rare missens variants in POT1 predispose to familial cutaneous malignant melanoma. Nat Genet. 2014 May;46(5):482-6. doi: 10.1038/ng.2941. PubMed PMID: 24686846; PubMed Central PMCID: PMC4056593.

16: Davies JR, Jewell R, Affleck P, Anic GM, Randerson-Moor J, Ozola A, Egan KM, Elliott F, García-Casado Z, Hansson J, Harland M, Höiom V, Jian G, Jönsson G, Kumar R, Nagore E, Wendt J, Olsson H, Park JY, Patel P, Pjanova D, Puig S, Schadendorf D, Sivaramakrishna Rachakonda P, Snowden H, Stratigos AJ, Bafaloukos D, Ogbah Z, Sucker A, Van den Oord JJ, Van Doorn R, Walker C, Okamoto I, Wolter P, Barrett JH, Timothy Bishop D, Newton-Bishop J. Inherited variation in the PARP1 gene and survival from melanoma. Int J Cancer. 2014 Oct 1;135(7):1625-33. doi: 10.1002/ijc.28796. PubMed PMID: 24535833; PubMed Central PMCID: PMC4106984.

17: Echeverría B, Bulliard JL, Guillén C, Nagore E. Indicators for the total number of melanocytic naevi: an adjunct for screening campaigns. Observational study on 292 patients. Br J Dermatol. 2014 Jan;170(1):144-9. dos: 10.1111/bjd.12692. PubMed PMID: 24443914.

18: Peña-Vilabelda MM, García-Casado Z, Requena C, Traves V, López-Guerrero JA, Guillén C, Kumar R, Nagore E. Clinical characteristics of patients with cutaneous melanoma according to variants in the melanocortin 1 receptor gene. Actas Dermosifiliogr. 2014 Mar;105(2):159-71. doi: 10.1016/j.ad.2013.10.001. English, Spanish. PubMed PMID: 24238329.

19: Davies JR, Field S, Randerson-Moor J, Harland M, Kumar R, Anic GM, Nagore E, Hansson J, Höiom V, Jönsson G, Gruis NA, Park JY, Guan J, Sivaramakrishna Rachakonda P, Wendt J, Pjanova D, Puig S, Schadendorf D, Okamoto I, Olsson H, Affleck P, García-Casado Z, Puig-Butille JA, Stratigos AJ, Kodela E, Donina S, Sucker A, Hosen I, Egan KM, Barrett JH, van Doorn R, Bishop DT, Newton-Bishop J. An inherited variant in the gene coding for vitamin D-binding protein and survival from cutaneous melanoma: a BioGenoMEL study. Pigment Cell Melanoma Res. 2014 Mar;27(2):234-43. doi: 10.1111/pcmr.12193. PubMed PMID: 24219834; PubMed Central PMCID: PMC4065372.

20: Maccioni L, Rachakonda PS, Bermejo JL, Planelles D, Requena C, Hemminki K, Nagore E, Kumar R. Variants at the 9p21 locus and melanoma risk. BMC Cancer. 2013 Jul 2;13:325. doi: 10.1186/1471-2407-13-325. PubMed PMID: 23816148; PubMed Central PMCID: PMC3702420.

21: Puig-Butillé JA, Carrera C, Kumar R, Garcia-Casado Z, Badenas C, Aguilera P, Malvehy J, Nagore E, Puig S. Distribution of MC1R variants among melanoma subtypes: p.R163Q is associated with lentigo maligna melanoma in a Mediterranean population. Br J Dermatol. 2013 Oct;169(4):804-11. doi: 10.1111/bjd.12418. PubMed PMID: 23647022; PubMed Central PMCID: PMC3863403.

22: Ríos L, Nagore E, López JL, Redondo P, Martí RM, Fernández-de-Misa R, Soler Melanoma characteristics at diagnosis from the Spanish National Cutaneous Melanoma Registry: 15 years of experience. Actas Dermosifiliogr. 2013 Nov;104(9):789-99. doi: 10.1016/j.ad.2013.02.003. English, Spanish. PubMed PMID: 23622931.

23: Peña-Chilet M, Ibarrola-Villava M, Martin-González M, Feito M, Gomez-Fernandez C, Planelles D, Carretero G, Lluch A, Nagore E, Ribas G.rs12512631 on the group specific complement (vitamin D-binding protein GC) implicated in melanoma susceptibility. PLoS One. 2013;8(3):e59607. doi: 10.1371/journal.pone.0059607. PubMed PMID: 23544077; PubMed Central PMCID: PMC3609832.

24: 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, 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; GenoMEL Consortium.; Q-MEGA and AMFS Investigators.. A variant in FTO shows association with melanoma risk not due to BMI. Nat Genet. 2013 Apr;45(4):428-32, 432e1. doi: 10.1038/ng.2571. PubMed PMID: 23455637; PubMed Central PMCID: PMC3640814.

25: Horn S, Figl A, Rachakonda PS, Fischer C, Sucker A, Gast A, Kadel S, Moll I, Nagore E, Hemminki K, Schadendorf D, Kumar R. TERT promoter mutations in familial and sporadic melanoma. Science. 2013 Feb 22;339(6122):959-61. doi:10.1126/science.1230062. PubMed PMID: 23348503.

26: Lenci RE, Bevier M, Brandt A, Bermejo JL, Sucker A, Moll I, Planelles D, Requena C, Nagore E, Hemminki K, Schadendorf D, Kumar R. Influence of genetic variants in type I interferon genes on melanoma survival and therapy. PLoS One. 2012;7(11):e50692. doi: 10.1371/journal.pone.0050692. PubMed PMID: 23209811; PubMed Central PMCID: PMC3507747.

27: 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. doi: 10.1038/jid.2012.385. PubMed PMID: 23096702.

28: Maccioni L, Rachakonda PS, Scherer D, Bermejo JL, Planelles D, Requena C, Hemminki K, Nagore E, Kumar R. Variants at chromosome 20 (ASIP locus) and melanoma risk. Int J Cancer. 2013 Jan 1;132(1):42-54. doi: 10.1002/ijc.27648. PubMed PMID: 22628150.

29: Ballester I, Oliver V, Bañuls J, Moragón M, Valcuende F, Botella-Estrada R, Nagore E. Multicenter case-control study of risk factors for cutaneous melanoma in Valencia, Spain. Actas Dermosifiliogr. 2012 Nov;103(9):790-7. doi: 10.1016/j.ad.2012.01.014. English, Spanish. PubMed PMID: 22626452.

30: Canelas MM, Bermejo JL, Landi MT, Requena C, Guillen C, Kumar R, Nagore E.Characterization of nonacral melanoma patients without typical risk factors. Melanoma Res. 2012 Aug;22(4):316-9. doi: 10.1097/CMR.0b013e3283541460. PubMed PMID: 22516967.

31: Davies JR, Randerson-Moor J, Kukalizch K, Harland M, Kumar R, Madhusudan S, Nagore E, Hansson J, Höiom V, Ghiorzo P, Gruis NA, Kanetsky PA, Wendt J, Pjanova D, Puig S, Saiag P, Schadendorf D, Soufir N, Okamoto I, Affleck P, García-Casado Z, Ogbah Z, Ozola A, Queirolo P, Sucker A, Barrett JH, van Doorn R, Bishop DT, Newton-Bishop J. Inherited variants in the MC1R gene and survival from cutaneous melanoma: a BioGenoMEL study. Pigment Cell Melanoma Res. 2012 May;25(3):384-94. doi: 10.1111/j.1755-148X.2012.00982.x. PubMed PMID: 22325793; PubMed Central PMCID: PMC3490389.

32: Ibarrola-Villava M, Fernandez LP, Alonso S, Boyano MD, Peña-Chilet M, Pita G, Aviles JA, Mayor M, Gomez-Fernandez C, Casado B, Martin-Gonzalez M, Izagirre N, De la Rua C, Asumendi A, Perez-Yarza G, Arroyo-Berdugo Y, Boldo E, Lozoya R, Torrijos-Aguilar A, Pitarch A, Pitarch G, Sanchez-Motilla JM, Valcuende-Cavero F, Tomas-Cabedo G, Perez-Pastor G, Diaz-Perez JL, Gardeazabal J, Martinez de Lizarduy I, Sanchez-Diez A, Valdes C, Pizarro A, Casado M, Carretero G, Botella-Estrada R, Nagore E, Lazaro P, Lluch A, Benitez J, Martinez-Cadenas C, Ribas G. A customized pigmentation SNP array identifies a novel SNP associated with melanoma predisposition in the SLC45A2 gene. PLoS One. 2011 Apr 29;6(4):e19271. doi: 10.1371/journal.pone.0019271. PubMed PMID: 21559390; PubMed Central PMCID: PMC3084811.

33: Figl A, Scherer D, Nagore E, Bermejo JL, Botella-Estrada R, Gast A, Thirumaran RK, Planelles D, Hemminki K, Schadendorf D, Kumar R. Single-nucleotide polymorphisms in DNA-repair genes and cutaneous melanoma. Mutat Res. 2010 Sep 30;702(1):8-16. doi: 10.1016/j.mrgentox.2010.06.011. PubMed PMID: 20601096.

34: Echeverría B, Botella-Estrada R, Serra-Guillén C, Martorell A, Traves V, Requena C, Sanmartín O, Llombart B, Guillén C, Nagore E. [Increased risk of developing a second primary cutaneous nevus-associated melanoma in patients previously diagnosed with the disease]. Actas Dermosifiliogr. 2010 Oct;101(8):710-6. Spanish. PubMed PMID: 20965014.

35: de Torre C, Garcia-Casado Z, Martínez-Escribano JA, Botella-Estrada R, Bañuls J, Oliver V, Mercader P, Azaña JM, Frias J, Nagore E. Influence of loss of function MC1R variants in genetic susceptibility of familial melanoma in Spain. Melanoma Res. 2010 Aug;20(4):342-8. doi: 10.1097/CMR.0b013e32833b159d. PubMed PMID: 20539244.

36: Garcia-Casado Z, Nagore E, Fernandez-Serra A, Botella-Estrada R, Lopez-Guerrero JA. A germline mutation of p14/ARF in a melanoma kindred. Melanoma Res. 2009 Oct;19(5):335-7. doi: 10.1097/CMR.0b013e32832dd2d4. PubMed PMID: 19741424.

37: Scherer D, Nagore E, Bermejo JL, Figl A, Botella-Estrada R, Thirumaran RK, Angelini S, Hemminki K, Schadendorf D, Kumar R. Melanocortin receptor 1 variants and melanoma risk: a study of 2 European populations. Int J Cancer. 2009 Oct 15;125(8):1868-75. doi: 10.1002/ijc.24548. PubMed PMID: 19585506.

38: Stacey SN, Sulem P, Masson G, Gudjonsson SA, Thorleifsson G, Jakobsdottir M, Sigurdsson A, Gudbjartsson DF, Sigurgeirsson B, Benediktsdottir KR, Thorisdottir K, Ragnarsson R, Scherer D, Hemminki K, Rudnai P, Gurzau E, Koppova K, Botella-Estrada R, Soriano V, Juberias P, Saez B, Gilaberte Y, Fuentelsaz V, Corredera C, Grasa M, Höiom V, Lindblom A, Bonenkamp JJ, van Rossum MM, Aben KK, de Vries E, Santinami M, Di Mauro MG, Maurichi A, Wendt J, Hochleitner P, Pehamberger H, Gudmundsson J, Magnusdottir DN, Gretarsdottir S, Holm H, Steinthorsdottir V, Frigge ML, Blondal T, Saemundsdottir J, Bjarnason H, Kristjansson K, Bjornsdottir G, Okamoto I, Rivoltini L, Rodolfo M, Kiemeney LA, Hansson J, Nagore E, Mayordomo JI, Kumar R, Karagas MR, Nelson HH, Gulcher JR, Rafnar T, Thorsteinsdottir U, Olafsson JH, Kong A, Stefansson K. New common variants affecting susceptibility to basal cell carcinoma. Nat Genet. 2009 Aug;41(8):909-14. doi: 10.1038/ng.412. PubMed PMID: 19578363; PubMed Central PMCID: PMC2973331.

39: Nagore E, Montoro A, García-Casado Z, Botella-Estrada R, Insa A, Lluch A, López-Guerrero JA, Guillén C. Germline mutations in CDKN2A are infrequent in female patients with melanoma and breast cancer. Melanoma Res. 2009 Aug;19(4):211-4. doi: 10.1097/CMR.0b013e3283281057. PubMed PMID: 19571771.

40: Nagore E, Hueso L, Botella-Estrada R, Alfaro-Rubio A, Serna I, Guallar J, González I, Ribes I, Guillen C. Smoking, sun exposure, number of nevi and previous neoplasias are risk factors for melanoma in older patients (60 years and over). J Eur Acad Dermatol Venereol. 2010 Jan;24(1):50-7. doi:10.1111/j.1468-3083.2009.03353.x. PubMed PMID: 19563496.

41: Nagore E, Botella-Estrada R, Requena C, Serra-Guillén C, Martorell A, Hueso L, Llombart B, Sanmartín O, Guillén C. [Clinical and epidemiologic profile of melanoma patients according to sun exposure of the tumor site]. Acts Dermosifiliogr. 2009 Apr;100(3):205-11. Spanish. PubMed PMID: 19457306.

42: Rafnar T, Sulem P, Stacey SN, Geller F, Gudmundsson J, Sigurdsson A, Jakobsdottir M, Helgadottir H, Thorlacius S, Aben KK, Blöndal T, Thorgeirsson TE, Thorleifsson G, Kristjansson K, Thorisdottir K, Ragnarsson R, Sigurgeirsson B, Skuladottir H, Gudbjartsson T, Isaksson HJ, Einarsson GV, Benediktsdottir KR, Agnarsson BA, Olafsson K, Salvarsdottir A, Bjarnason H, Asgeirsdottir M, Kristinsson KT, Matthiasdottir S, Sveinsdottir SG, Polidoro S, Höiom V, Botella-Estrada R, Hemminki K, Rudnai P, Bishop DT, Campagna M, Kellen E, Zeegers MP, de Verdier P, Ferrer A, Isla D, Vidal MJ, Andres R, Saez B, Juberias P, Banzo J, Navarrete S, Tres A, Kan D, Lindblom A, Gurzau E, Koppova K, de Vegt F, Schalken JA, van der Heijden HF, Smit HJ, Termeer RA, Oosterwijk E, van Hooij O,Nagore E, Porru S, Steineck G, Hansson J, Buntinx F, Catalona WJ, Matullo G, Vineis P, Kiltie AE, Mayordomo JI, Kumar R, Kiemeney LA, Frigge ML, Jonsson T, Saemundsson H, Barkardottir RB, Jonsson E, Jonsson S, Olafsson JH, Gulcher JR, Masson G, Gudbjartsson DF, Kong A, Thorsteinsdottir U, Stefansson K. Sequence variants at the TERT-CLPTM1L locus associate with many cancer types. Nat Genet. 2009 Feb;41(2):221-7. doi: 10.1038/ng.296. PubMed PMID: 19151717; PubMed Central PMCID: PMC4525478.

43: Figl A, Scherer D, Nagore E, Bermejo JL, Dickes E, Thirumaran RK, Gast A,Hemminki K, Kumar R, Schadendorf D. Single nucleotide polymorphisms in DNA repair genes XRCC1 and APEX1 in progression and survival of primary cutaneous melanoma patients. Mutat Res. 2009 Feb 10;661(1-2):78-84. doi: 10.1016/j.mrfmmm.2008.11.011. PubMed PMID: 19073198.

44: Stacey SN, Gudbjartsson DF, Sulem P, Bergthorsson JT, Kumar R, Thorleifsson G, Sigurdsson A, Jakobsdottir M, Sigurgeirsson B, Benediktsdottir KR. Thorisdottir K, Ragnarsson R, Scherer D, Rudnai P, Gurzau E, Koppova K, Höiom V, Botella-Estrada R, Soriano V, Juberías P, Grasa M, Carapeto FJ, Tabuenca P, Gilaberte Y, Gudmundsson J, Thorlacius S, Helgason A, Thorlacius T, Jonasdottir A, Blondal T, Gudjonsson SA, Jonsson GF, Saemundsdottir J, Kristjansson K, Bjornsdottir G, Sveinsdottir SG, Mouy M, Geller F, Nagore E, Mayordomo JI, Hansson J, Rafnar T, Kong A, Olafsson JH, Thorsteinsdottir U, Stefansson K. Common variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or pigmentation traits. Nat Genet. 2008 Nov;40(11):1313-8. doi: 10.1038/ng.234. PubMed PMID: 18849993.

45: Nagore E, Pereda C, Botella-Estrada R, Requena C, Guillén C. Acral lentiginous melanoma presents distinct clinical profile with high cancer susceptibility. Cancer Causes Control. 2009 Feb;20(1):115-9. doi: 10.1007/s10552-008-9221-y. PubMed PMID: 18758972.

46: Gudbjartsson DF, Sulem P, Stacey SN, Goldstein AM, Rafnar T, Sigurgeirsson B, Benediktsdottir KR, Thorisdottir K, Ragnarsson R, Sveinsdottir SG, Magnusson V, Lindblom A, Kostulas K, Botella-Estrada R, Soriano V, Juberías P, Grasa M, Saez B, Andres R, Scherer D, Rudnai P, Gurzau E, Koppova K, Kiemeney LA, Jakobsdottir M, Steinberg S, Helgason A, Gretarsdottir S, Tucker MA, Mayordomo JI, Nagore E, Kumar R, Hansson J, Olafsson JH, Gulcher J, Kong A, Thorsteinsdottir U, Stefansson K. ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma. Nat Genet. 2008 Jul;40(7):886-91. doi: 10.1038/ng.161. Erratum in: Nat Genet. 2008 Aug;40(8):1029. PubMed PMID:18488027.

47: Nagore E, Botella-Estrada R, Garcia-Casado Z, Requena C, Serra-Guillen C, Llombart B, Sanmartin O, Guillen C. Comparison between familial and sporadic cutaneous melanoma in Valencia, Spain. J Eur Acad Dermatol Venereol. 2008 Aug;22(8):931-6. doi: 10.1111/j.1468-3083.2008.02682.x. PubMed PMID: 18355200.

48: Nagore E, Oliver V, Botella-Estrada R, Moreno-Picot S, Guillén C, Fortea JM. Clinicopathological analysis of 1571 cutaneous malignant melanomas in Valencia, Spain: factors related to tumour thickness. Acta Derm Venereol. 2006;86(1):50-6. PubMed PMID: 16585990.

49: Planelles D, Nagore E, Moret A, Botella-Estrada R, Vila E, Guillén C, Montero HLA class II polymorphisms in Spanish melanoma patients: homozygosity for HLA-DQA1 locus can be a potential melanoma risk factor. Br J Dermatol. 2006 Feb;154(2):261-6. PubMed PMID: 16433795.

50: Nagore E, Montoro A, Oltra S, Ledesma E, Botella-Estrada R, Millán JM, Oliver V, Fortea JM, Guillén C. Age does not appear to be a major indicator of CDKN2A or CDK4 mutations in melanoma patients in Spain. Melanoma Res. 2005 Dec;15(6):555-8. PubMed PMID: 16314743.

51: Nagore E, Planelles MD, Ledesma E, Millán JM, Insa A, Oliver V, Guillén C, Fortea JM. Molecular genetic analysis of HLA-DR and -DQ alleles in Spanish patients with melanoma. Acta Derm Venereol. 2002;82(2):90-3. PubMed PMID: 12125959.

52: Nagore E, Climent J, Planelles MD, Ledesma E, Rubio-Moscardó F, Fortea JM, Oliver V. Analysis of the CDKN2A and CDK4 genes and HLA-DR and HLA-DQ alleles in two Spanish familial melanoma kindreds. Acta Derm Venereol. 2000 Nov-Dec;80(6):440-2. PubMed PMID: 11243640.

Hospital Clinic Barcelona, IDIBAPS

barcelonapictxt


Our institution

Hospital Clinic Barcelona
IDIBAPS
Villarroel 170
08036 Barcelona
Spain

Our group

Department of Dermatology
(Clinic)
Melanoma Unit
Hospital Clinic Barcelona, IDIBAPS
Villarroel 170
08036 Barcelona
Spain

Genetics Service (Laboratory)
Hospital Clinic Barcelona, IDIBAPS
Villarroel 170
08036 Barcelona
Spain

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

Dr. Susana Puig, MD. PhD
Department of Dermatology
Hospital Clinic Barcelona, IDIBAPS
Villarroel 170
08036 Barcelona
Spain

E-mail: spuig@clinic.ub.es
Phone: +34 93 227 54 00 ext 2422
Fax: +34 93 227 54 38

The Melanoma Unit research program of the Dept. of Dermatology includes three main lines of research: 1. Genetic susceptibility to malignant melanoma and nevogenicity. Somatic genetics of melanoma and nevus development; 2. Immunotherapy and new therapies for melanoma 3. Dermoscopy, new diagnosis and prognosis techniques.

1. The melanoma group has focused particularly on the genetic aspects of the Familial Atypical Multiple Mole-Melanoma syndrome. FAMMM is an excellent example of a multi-factorial disorder in which gene-gene and gene-environment interactions play a crucial role. Our studies on a large collection of families with the FAMMM syndrome have demonstrated that 20% of the families had a mutation in the cell cycle regulator gene CDKN2A. 18% of patients with multiple primary melanomas in our setting are also carriers of CDKN2A mutations. In contrast, the incidence of mutations in sporadic melanomas is very low (1-2%). We have furthermore evaluated variants of the melanocortin 1 receptor (MC1R) gene as a modifier of melanoma risk. In addition, the role of UV light, DNA repair capacity, type of skin and degree of pigmentation in relation to melanoma risk is being investigated. Other genodermatosis and multifactorial cutaneous diseases are also investigated.

2. Our research in melanoma therapy is mainly focused on investigating new therapeutic strategies such as whole attenuated cell vaccines or autologous dendritic cell vaccines. Immunological assays are being performed to investigate host response to these vaccines and clinical trials are being developed to evaluate clinical responses. Furthermore, several therapeutic protocols of chemotherapy, biochemotherapy and/or radiotherapy are being conducted to investigate new treatment strategies.

3. Dermoscopy is a non-invasive technique focused on the diagnosis of pigmented tumors. The accuracy of melanoma diagnosis improves with the use of this technique. Special surveillance programs including total body photography and digital dermoscopy follow-up are being developed for the early diagnosis of melanoma in melanoma kindreds and in individuals with high risk to develop melanoma. Exhaustive analysis of false-negative and false-positive melanomas (by naked eye and dermoscopy), morphological description of non-melanocytic cutaneous tumors and the application of dermoscopy in non-tumoral diseases are also being investigated.

Melanoma research

In the melanoma group, lead by Professor Newton Bishop, we have studied high penetrance genes from families with multiple cases of melanoma. To investigate lower penetrance genes and the interaction between genes and the environment, we are currently recruiting a large cohort of melanoma patients, their families and matched population controls. We have also been studying patients who have relapsed with melanoma and will compare them to controls who have not relapsed in order to look at factors associated with prognosis.

Related Links

Institut de Recerca Biomèdica August Pi i Suñer (IDIBAPS)
www.idibaps.ub.edu/

Hospital Clínic de Barcelona
www.hospitalclinic.org

The names and e-mail addresses of the group members

Principal researchers

Susana Puig, MD. PhD
spuig@clinic.ub.es

Josep Malvehy, MD
jmalvehy@clinic.ub.es

Genetics service

Montserrat Mila
mmila@clinic.ub.es

Celia Badenas
cbadenas@clinic.ub.es

PhD-students

Paula Aguilera

Cristina Carrera

Francisco Cuellar (Latin America coordinator)

Zighe Ogbah

Joan-Anton Puig-Butille

Pedro Zaballos

Technicians

Remedios Cervera

Research nurse / Data Managers

Pablo Iglesias

Dani Gabriel

Psychologist/Genetic Counselling

Melinda Gonzlez

Publications

A Ruiz, S Puig, J Malvehy, C Lazaro, M Lynch, A.M. Gimenez-Arnau, Ll Puig, J Sanchez-Conejo, X Estivill, T Castel.

“CDKN2A mutations in Spanish cutaneous malignant melanoma families and patients with multiple melanomas and other neoplasia”

J Med Genet 36; 490-494 (1999)

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=10874641

Ruiz A, Nadal M, Puig S, Estivill X.
“Cloning of the human phospholipase A2 activating protein (hPLAP) gene on the chromosome 9p21 melanoma deleted region”
Gene 239: 155-161 (1999)

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=1057104

S Puig, J Castro, PJ Ventura, C Ascaso, J Malvehy, X Estivill, A Vilalta, M Lecha, T Castel.
“Large deletions of chromosome 9p in cutaneous malignant melanoma identify patients with a high risk of developing metastases”
Melanoma Research; 10: 231-236 (2000)

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=1089037

Moral A, Lafuente MJ, Lafuente A, Castel T, Balesta AM, Lecha M; Trias M, The MMM Group.
The Use Erytrocyte Glutathione as a predictive marker for malignant melanoma.
Anticancer Research 20: 4757-4760 (2000)

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=11205213

Rizos H*, Puig S*, Badenas C, Malvehy J, Darmanian AP, Jiménez L, Milà M, Kefford RF.
A melanoma-associated germline mutation in exon 1ß inactivates p14ARF.
Oncogene 20: 5543-7 (2001)

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=11571653

C Ferrandiz, Bordas X, García-Patos V, Puig S, Pujol R, Smandia A.
Prevalence of Psoriasis in Spain.
EJAD 15: 20-23 (2001)

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=11451315

E Serra, E Ars, A Ravella, A Sanchez, S Puig, T Rosenbaum, X Estivill, C Lazaro.
Somatic NF1 mutational spectrum in benign neurofibromas: mRNA splice defects are common among point mutations.
Human Genet 108: 416-429 (2001)

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=11409870

Asumalahti K, Veal C, Laitinen T, Suomela S, Allen M, Elomaa O, Moser M, de Cid R, Ripatti S, Vorechovsky I, Marcusson JA, Nakagawa H, Lazaro C, Estivill X, Capon F, Novelli G, The psoriasis consortium, et al.
Coding haplotype analysis supports HCR as the putative susceptibility gene for psoriasis at the MHC PSORS1 locus.
Hum Mol Genet 2002; 11: 589-597.

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=11875053

Kefford R, Bishop JN, 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.
Genetic testing for melanoma.
Lancet Oncol (2002) 3:653-654

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

Malvehy J, Puig S.
“Follow up of melanocytic skin lesions with digital dermoscopy”.
Clin Dermatol (2002) 20:297-304

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=12074871

Vidal-Sicart S, Pons F, Puig S, Ortega M, Vilalta A, Martín F, Rull R, Palou J, Castel T.
Identification of the sentinel lymph node in patients with malignant melanoma: what are the reasons for mistakes?
Eur J Nucl Med Mol Imaging 2003; 30(3):362-6

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=12634963

Vilella R, Benitez D, Mila J, Vilalta A, Rull R, Cuellar F, Conill C, Vidal-Sicart S, Costa J, Yachi E, Palou J, Malvehy J, Puig S, Martí R, Mellado B, Castel T.
Treatment of patients with progressive unresectable metastatic melanoma with a heterologous polyvalent melanoma whole cell vaccine.
Int J Cancer 2003 Sep 10; 106(4):626-31.

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=12845663

Argenziano G, Soyer HP, Chimenti S, Malvehy J, Puig S et al.
Dermoscopy of pigmented skin lesions. Results of a Consensus Meeting via Internet.
J Am Acad Dermatol (2003) 48: 679-93

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=12734496

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, Paillerets BB. Eur J
A single Mediterranean, possibly Jewish, origin for the Val59Gly CDKN2A mutation in four melanoma-prone families.
Hum Genet. 2003 Apr;11(4):288

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

Zalaudek I, Argenziano G, Ferrara G, Soyer HP, Corona R, Sera F, Cerroni L, Carbone A, Chiominto A, Cicale L, De Rosa G, Ferrari A, Hoffmann-Wellenhof R, Malvehy J, Peris K, Pizzichetta MA, Puig S, Scaqlvenzi M, Staibano S and Ruocco V.
Clinically equivocal melanocytic skin lesions with features of regression: a dermoscopic-pathologycal study.
Br J Dermatol (2004) 150: 64-71

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=14746618

Malvehy J, Puig S.
Dermoscopic Patterns of benign volar melanocytic lesions in patients with atypical mole syndrome.
Arch Dermatol (2004) 140: 538-44

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=15148097

Conill C, González-Cao M, Jorcano S, Puig S, Malvehy J, Martí R and Castel T.
Temozolomide as profilaxis of melanoma brain metastases.
Mel Res 2004: 14; 73-4

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=15091198

R. Vilella, D. Benítez, J. Milà, M. Lozano, R. Vilana, J. Pomes, X. Tomas, J. Costa, A. Vilalta, J. Malvehy, S. Puig, B. Mellado, R. Martí and T. Castel.
Pilot study of treatment of biochemotherapy-refractory stage IV melanoma patients with autologous dendritic cells pulsed with a heterologous melanoma cell line lysate.
Cancer immunology immunotherapy 2004; 53: 651-8

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=14999431

Zalaudek I, Argenziano G, Leinweber B, Luigi Citarella,3 MD; Rainer Hofmann-Wellenhof,1 MD; Josep Malvehy,4 MD; Susana Puig,4 MD; Maria Antonietta Pizzichetta,5 MD; Luc Thomas,6 MD; H. Peter Soyer,1 MD; H. Kerl,1 MD
Dermoscopy OF Bowen´s disease.
Br J Dermatol 2004; 150: 64-71

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=15214896

Gonzalez Cao M, Puig S, Mellado B.
Survivin expression in sentinel lymp nodes from melanoma patients.
J Clin Oncol 2004; 22: 2751-2

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=15226347

Vidal-Sicart S, Pons F, Fuertes S, Vilalta A, Rull R, Puig S, Palou J, Ortega M, Castel T.
Is the identification of in transit sentinel lymph nodes in malignant melanoma patients really necessary?
Eur J Nucl Med Mol Imaging 2004; 31: 945-9

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=14997348

Best 5 publications: 1, 3, 5, 12, 16.

LUMC Dermatology

Group Leader

Dr. Nelleke A. Gruis, Phd

gruis@lumc.nl
https://www.lumc.nl/research/programmes/a-g/80115052947221/

Department of dermatology – skin research laboratory
LUMC, P.O. Box 9600
Room C3-76, C3-S
2300 RC, Leiden
The Netherlands

Group members

Dr R van Doorn-dermatologist
Prof dr W Bergman-dermatologist
Dr N.A. Kukutsch-dermatologist
Dr. M Visser- postdoc
Drs. E Christodoulou- PhD student
Drs. C. Salgado- PhD student

Research

Genetics of melanoma predisposition

The melanoma research group has a longstanding interest in the genetic aspects of familial melanoma, also known as familial atypical multiple mole-melanoma syndrome (FAMMM). Familial melanoma is an example of a disorder in which gene-environment interactions play a crucial role in addition to heritable genetic alterations. Studies on a large collection of families with multiple melanoma cases in The Netherlands demonstrated that 25% of them had a founder mutation in the CDKN2A gene (p16-Leiden mutation). This tumor suppressor gene encodes for the p16 and p14 proteins that are primarily involved in cell cycle regulation. The highly variable risk for p16-Leiden mutation carriers to develop melanoma suggests a role for other genetic and environmental factors. These are the subject of current research, which is mostly performed through participation in the international melanoma genetics consortium GenoMEL (www.genomel.org).

In our search to identify melanoma-predisposing genetic variants we also focused on large sporadic melanoma case-control cohorts. SNP-based genome wide approaches have identified genomic loci that are primarily related to genes in pigmentation pathways. Currently our main focus is to discover novel high penetrance melanoma susceptibility genes through application of whole exome and genome sequencing (WES and WGS). For several novel candidates functional studies have been started.

MC1R & oxidative stress management

We have furthermore evaluated a modifying factor of melanoma risk. Variants of the melanocortin 1 receptor (MC1R) gene are associated with red hair, fair skin and increased risk of melanoma in humans. A typical fair skin type variant turns out to be over-represented in sporadic and familial melanoma patients and is associated with an increased melanoma risk independent of skin type. These findings suggest that MC1R variants are involved in melanoma tumorigenesis in a dual manner; as determinant of fair skin and in a pigmentation signalling-independent pathway. In this regard, the role of UV light and oxidative stress, in relation to type and degree of pigmentation and melanoma risk is investigated.

Epigenetics of melanoma

The identification and functional assessment of epigenetic alterations in melanoma is another research line pursued in our reseach group. Epigenetic alterations, in particular aberrant DNA methylation, have been recognized as important contributors to the malignant phenotype of melanoma cells. Dozens of tumor suppressor genes have been reported to be affected by promoter hypermethylation in melanoma including CDKN2A, PTEN, APAF1, E-cadherin and RASSF1A. Our research lab has been among the first to demonstrate promoter hypermethylation in melanoma and we investigate the contribution of this mechanism to its malignant progression and prognosis.

Melanoma skin model

The research laboratory has extensive experience in developing and studying human skin equivalent models, which are engineered by introducing fibroblasts into a dermal matrix onto which keratinocytes are seeded. The engineered skin models generated at our research laboratory are among the most advanced in their resemblance to native skin. Tissue engineered models of cutaneous melanoma and its precursors are used to study the growth and invasive behavior of melanoma cells in their proper microenvironment. In addition to in vitro melanoma models, organotypic skin cultures containing melanocytes are generated to investigate melanocyte biology.

Clinical Research

The department has the largest pigmented lesion clinic in The Netherlands and serves as a tertiary referral center for (familial) melanoma. The well-organized management of patients with dysplastic naevi and melanoma ensures the availability of clinically annotated patient material for research purposes and the possibility for clinical ‘translation’ of research findings. The special position of our clinic as a melanoma center in The Netherlands is related to a large population of patients with familial melanoma carrying the p16-Leiden mutation living in the vicinity of Leiden. Optimizing the management of patients predisposed to the development of melanoma is one of the goals of our research group. To this end epidemiological studies of genetic and environmental influences on melanoma risk are performed and application of imaging devices in the early diagnosis of melanoma is studied by clinical researchers attached to our department.

 

Publications

1: 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. doe: 10.1007/s10689-015-9841-9. PubMed PMID: 26433962; PubMed Central PMCID:PMC4698275.

2: 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. Nat Genet. 2015 Sep;47(9):987-95. doi: 10.1038/ng.3373. PubMed PMID: 26237428; PubMed Central PMCID: PMC4557485.

3: Gao L, van den Hurk K, Nsengimana J, Laye JP, van den Oord JJ, Beck S, Gruis NA, Zoutman WH, van Engeland M, Newton-Bishop JA, Winnepenninckx VJ, van Doorn R. Prognostic Significance of Promoter Hypermethylation and Diminished Gene Expression of SYNPO2 in Melanoma. J Invest Dermatol. 2015 Sep;135(9):2328-31. doi: 10.1038/jid.2015.163. PubMed PMID: 25918983.

4: 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. doi: 10.1016/j.jid.2016.01.009. PubMed PMID:26827760.

5: Gao L, van den Hurk K, Moerkerk PT, Goeman JJ, Beck S, Gruis NA, van den Oord JJ, Winnepenninckx VJ, van Engeland M, van Doorn R. Promoter CpG island hypermethylation in dysplastic nevus and melanoma: CLDN11 as an epigenetic biomarker for malignancy. J Invest Dermatol. 2014 Dec;134(12):2957-66. dos: 10.1038/jid.2014.270. PubMed PMID: 24999589.

6: Commandeur S, Sparks SJ, Chan HL, Gao L, Out JJ, Gruis NA, van Doorn R, El Ghalbzouri A. In-vitro melanoma models: invasive growth is determined by dermal matrix and basement membrane. Melanoma Res. 2014 Aug;24(4):305-14. dos: 10.1097/CMR.0000000000000079. PubMed PMID: 24892959.

7: van der Rhee JI, Boonk SE, Putter H, Cannegieter SC, Flinterman LE, Hes FJ, de Snoo FA, Mooi WJ, Gruis NA, Vasen HF, Kukutsch NA, Bergman W. Surveillance of second-degree relatives from melanoma families with a CDKN2A germline mutation. Cancer Epidemiol Biomarkers Prev. 2013 Oct;22(10):1771-7. dos: 10.1158/1055-9965.EPI-13-0130. PubMed PMID: 23897584.

8: Gao L, Smit MA, van den Oord JJ, Goeman JJ, Verdegaal EM, van der Burg SH,Stas M, Beck S, Gruis NA, Tensen CP, Willemze R, Peeper DS, van Doorn R. Genome-wide promoter methylation analysis identifies epigenetic silencing of MAPK13 in primary cutaneous melanoma. Pigment Cell Melanoma Res. 2013 Jul;26(4):542-54. doi: 10.1111/pcmr.12096. PubMed PMID: 23590314.

9: Gao L, van Nieuwpoort FA, Out-Luiting JJ, Hensbergen PJ, de Snoo FA, Bergman W, van Doorn R, Gruis NA. Genome-wide analysis of gene and protein expression of dysplastic naevus cells. J Skin Cancer. 2012;2012:981308. dos:10.1155/2012/981308. PubMed PMID: 23251804; PubMed Central PMCID: PMC3515917.

10: Quint KD, van der Rhee JI, Gruis NA, Ter Huurne JA, Wolterbeek R, van der Stoep N, Bergman W, Kukutsch NA. Melanocortin 1 receptor (MC1R) variants in high melanoma risk patients are associated with specific dermoscopic ABCD features. Acta Derm Venereol. 2012 Nov;92(6):587-92. doi: 10.2340/00015555-1457. PubMed PMID: 22965007.

11: Gruis NA, van Doorn R. Melanocortin 1 receptor function: shifting gears from determining skin and nevus phenotype to fetal growth. J Invest Dermatol. 2012 Aug;132(8):1953-5. doi: 10.1038/jid.2012.216. PubMed PMID: 22797298.