Archives

University of the Highlands and Islands

Division of Biomedical Sciences:

https://pure.uhi.ac.uk/en/organisations/division-of-biomedical-sciences

Melanoma Research Group:

https://pure.uhi.ac.uk/en/organisations/melanoma-research-group

Oregon Health & Science University

Department of Dermatology

https://www.ohsu.edu/dermatology

Group Leaders

Elizabeth Berry, MD and Sancy Leachman, MD, PhD

Group Members

Elizabeth Berry, MD and Sancy Leachman, MD, PhD

Publications

    • Goldstein AM, Qin R, Chu EY, Elder DE, Massi D, Adams DJ, Harms PW, Robles-Espinoza CD, Newton-Bishop JA, Bishop DT, Harland M, Holland EA, Cust AE, Schmid H, Mann GJ, Puig S, Potrony M, Alos L, Nagore E, Millán-Esteban D, Hayward NK, Broit N, Palmer JM, Nathan V, Berry EG, Astiazaran-Symonds E, Yang XR, Tucker MA, Landi MT, Pfeiffer RM, Sargen MR. Association of germline variants in telomere maintenance genes (POT1, TERF2IP, ACD, and TERT) with spitzoid morphology in familial melanoma: A multi-center case series. JAAD Int. 2023 Jan 30;11:43-51. doi: 10.1016/j.jdin.2023.01.013. PMID: 36876055; PMCID: PMC9978843.
    • Slaught C, Berry EG, Bacik L, Skalet AH, Anadiotis G, Tuohy T, Leachman SA. Clinical challenges in interpreting multiple pathogenic mutations in single patients. Hered Cancer Clin Pract. 2021 Feb 4;19(1):15. doi: 10.1186/s13053-021-00172-3. PMID: 33541411; PMCID: PMC7863461.
    • Fuiten AM, Fankhauser RG, Smit DJ, Stark MS, Enright TF, Wood MA, DePatie NA, Pivik K, Sturm RA, Berry EG, Kulkarni RP. Genetic analysis of multiple primary melanomas arising within the boundaries of congenital nevi depigmentosa. Pigment Cell Melanoma Res. 2021
    • Leachman SA, Lucero OM, Sampson JE, Cassidy P, Bruno W, Queirolo P, Ghiorzo P. Identification, genetic testing, and management of hereditary melanoma. Cancer Metastasis Rev. 2017 Mar;36(1):77-90. doi: 10.1007/s10555-017-9661-5. PMID: 28283772; PMCID: PMC5385190.
    • Pho LN, Leachman SA. Genetics of pigmentation and melanoma predisposition. G Ital Dermatol Venereol. 2010 Feb;145(1):37-45. PMID: 20197744.
    • Hansen CB, Wadge LM, Lowstuter K, Boucher K, Leachman SA. Clinical germline genetic testing for melanoma. Lancet Oncol. 2004 May;5(5):314-9. doi: 10.1016/S1470-2045(04)01469-X. PMID: 15120668.
    • Leachman SA, Carucci J, Kohlmann W, Banks KC, Asgari MM, Bergman W, Bianchi-Scarrà G, Brentnall T, Bressac-de Paillerets B, Bruno W, Curiel-Lewandrowski C, de Snoo FA, Debniak T, Demierre MF, Elder D, Goldstein AM, Grant-Kels J, Halpern AC, Ingvar C, Kefford RF, Lang J, MacKie RM, Mann GJ, Mueller K, Newton-Bishop J, Olsson H, Petersen GM, Puig S, Rigel D, Swetter SM, Tucker MA, Yakobson E, Zitelli JA, Tsao H. Selection criteria for genetic assessment of patients with familial melanoma. J Am Acad Dermatol. 2009 Oct;61(4):677.e1-14. doi: 10.1016/j.jaad.2009.03.016. PMID: 19751883; PMCID: PMC3307795.
    • Pho L, Grossman D, Leachman SA. Melanoma genetics: a review of genetic factors and clinical phenotypes in familial melanoma. Curr Opin Oncol. 2006 Mar;18(2):173-9. doi: 10.1097/01.cco.0000208791.22442.09. PMID: 16462187.

Cancer Genetics & Bioinformatics – National University of Mexico

Group Leader

Dr Carla Daniela Robles-Espinoza

Laboratorio Internacional de Investigación sobre el Genoma Humano
Universidad Nacional Autónoma de México, Campus Juriquilla
Blvd. Juriquilla #3001 Col. Jurica La Mesa
C.P. 76230, Querétaro, México
Tel.  +52 55 56 23 43 31 ext. 259

Email: drobles@liigh.unam.mx
http://www.liigh.unam.mx/drobles

Group Members

Irving Simonin Wilmer
Carolina Castañeda García
Omar Isaac García Salinas
Raúl Ossio M.D – PhD student
Patricia Basurto Lozada – student

Research

Our research aims to study how cancer originates and evolves, especially in the context of admixed populations such as Mexican people. Our current focus is melanoma predisposition and progression, with aims to extend to other types of cancer that are prevalent in Latin America. We analyse data from large-scale sequencing methodologies and write software tools to help in its interpretation.

Our on-going projects are:

  • The study of genetic risk variants and mutation drivers in acral melanoma, a poorly studied melanoma subtype that is the most common in Mexico but very rare in European-descent populations. In this project, we are collaborating with Mexico’s National Cancer Institute and the Manuel Gonzalez Gea Hospital to study hundreds of samples collected in these hospitals over three decades.
  • The study of melanoma predisposition genes by exome-sequencing germline DNA from Mexican families and patients. As Mexicans are a highly admixed population, we might identify novel melanoma-predisposing haplotypes that are not found in European-descent populations. In this project, we are collaborating with the National Autonomous University of Mexico’s Clinic of Oncodermatology.
  • The creation of a software tool to easily interpret data from next-generation sequencing technologies in a clinical context.

Publications

Robles-Espinoza CD, Roberts ND, Chen S, Leacy FP, Alexandrov LB, Pornputtapong N, Halaban R, Krauthammer M, Cui R, Timothy Bishop D, Adams DJ (2016). Germline MC1R status influences somatic mutation burden in melanoma. Nat Commun. Jul 12;7:12064. doi: 10.1038/ncomms12064. PMID: 27403562 (See media related to this article)

McIntyre RE, Nicod J, Robles-Espinoza CD, Maciejowski J, Cai N, Hill J, Verstraten R, Iyer V, Rust AG, Balmus G, Mott R, Flint J, Adams DJ (2016). A Genome-Wide Association Study for Regulators of Micronucleus Formation in Mice. G3 (Bethesda) May 27. pii: g3.116.030767. doi: 10.1534/g3.116.030767. PMID: 27233670