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Genomics|Features|Skin Cancer

Skin Cancer

Skin Cancer: Public Health and Genomic Insights - May 26, 2015

CDC and Related Info

• Skin cancer awareness
• Prevention and control of skin cancer
• Skin cancer is the most common cancer in the United States. Most cases of melanoma, the deadliest kind of skin cancer, are caused by exposure to ultraviolet light
• Risk factors for skin cancer include family health history-know your family health history
• Genes reported in relation to melanoma, including genomewide association studies via theHuGE Navigator
• Genes reported in relation to skin cancer, including genomewide association studies via theHuGE Navigator

CDC information: Skin Cancer Awareness

It's Melanoma and Skin Cancer Awareness Month, American Association for Cancer Research

Prevention and control of skin cancer 
CDC Public Health Grand Rounds

Cancer. Preprocancer.
Brash DE et al. Science 2015 May 22. (6237) 867-8

Tumor evolution. High burden and pervasive positive selection of somatic mutations in normal human skin.
Martincorena I et al. Science 2015 May 22. (6237) 880-6

Cancer systems biology of TCGA SKCM: efficient detection of genomic drivers in melanoma.
Guan J et al. Sci Rep 2015 7857

Common genetic risk for melanoma encourages preventive behavior change.
Diseati Lori et al. J Pers Med 2015 (1) 36-49

Genetic variants in Hippo pathway genes YAP1, TEAD1 and TEAD4 are associated with melanoma-specific survival.
Yuan Hua et al. Int. J. Cancer 2015 Jan 13.

Cancer systems biology of TCGA SKCM: efficient detection of genomic drivers in melanoma.
Guan Jian et al. Sci Rep 2015 7857

Genetic basis for clinical response to CTLA-4 blockade in melanoma.
Snyder Alexandra et al. N. Engl. J. Med. 2014 Dec 4. (23) 2189-99

Milestones in skin carcinogenesis: the biology of multistage carcinogenesis.
Balmain Allan et al. J. Invest. Dermatol. 2014 (e1) E2-7

Genetics of skin cancer (PDQ®), from the National Cancer Institute

More on Melanoma Genomics: From Research to Practice - April 24, 2015

Melanoma
Schadendorf D et al. Nature Reviews Disease Primers, April 23, 2015

Therapeutic advances and treatment options in metastatic melanoma
Johnson DBet al. JAMA Oncology, April 23, 2015

NRAS and BRAF mutational status and melanoma-specific survival 
Thomas N et al. JAMA Oncology, April 9, 2015

Towards predicting metastatic progression of melanoma based on gene expression data.
Li Y et al. Pigment Cell Melanoma Res 2015 Apr 3.

Inherited genetic variants associated with occurrence of multiple primary melanoma.
Gibbs DC et al. Cancer Epidemiol. Biomarkers Prev. 2015 Apr 2.

Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition.
Wadt KA et al. PLoS ONE 2015 (3) e0122662

Unique genomic profile associated with pediatric uveal melanoma.
Blasi MA et al. Eur J Ophthalmol 2015 Mar 16. 0

Pleiotropic and sex-specific effects of cancer GWAS SNPs on melanoma risk in the population architecture using genomics and epidemiology (PAGE) study.
Kocarnik JM et al. PLoS ONE 2015 (3) e0120491

Targeted therapies in melanoma.
Moschos Stergios J et al. Surg. Oncol. Clin. N. Am. 2015 Apr (2) 347-358

Loss of CITED1, an MITF regulator, drives a phenotype switch in vitro and can predict clinical outcome in primary melanoma tumours.
Howlin J et al. PeerJ 2015 e788

A melanoma subtype with intrinsic resistance to BRAF inhibition identified by receptor tyrosine kinases gene-driven classification.
Dugo M et al. Oncotarget 2015 Mar 10. (7) 5118-33

Genome-wide DNA methylation analysis in melanoma reveals the importance of CpG methylation in MITF regulation.
Lauss M et al. J. Invest. Dermatol. 2015 Feb 23.

Melanoma: Recent Genomic Insights - January 23, 2015

Development of a prognostic genetic signature to predict the metastatic risk associated with cutaneous melanoma. 
Gerami P, et al. Clin Cancer Res. 2015 Jan 1;21(1):175-83.

New test identifies early-stage melanoma with metastatic risk, Medscape, Jan 15 [by free subscription only]

Epigenetic regulation in human melanoma: Past and future.
Sarkar D, et al. Epigenetics. 2015 Jan 14:0.

TRIB2 as a biomarker for diagnosis and progression of melanoma.
Hill R, et al.  Carcinogenesis. 2015 Jan 13.

Limited genomic heterogeneity of circulating melanoma cells in advanced stage patients.
Ruiz C, et al. Phys Biol. 2015 Jan 9;12(1):016008

Current therapeutic leads for the treatment of melanoma: Targeted Immunotherapy in the post-genomic era.
Papanastasiou AD, et al. Curr Mol Pharmacol. 2014;7(1):33-43.

Clinically relevant genes and regulatory pathways associated with NRASQ61 mutations in melanoma through an integrative genomics approach.
Jiang W, et al. Oncotarget. 2014 Dec 10

Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma.
Aoude LG, et al. J Natl Cancer Inst. 2014 Dec 13

Melanoma genome sequencing reveals frequent PREX2 mutations.
Chroscinski D,et al. Elife. 2014 Dec 10;3.

Implementation of a companion diagnostic in the clinical laboratory: the BRAF example in melanoma.
Mancini I, et al. Clin Chim Acta. 2015 Jan 15;439:128-36

Genomic microarray analysis on formalin-fixed paraffin-embedded material for uveal melanoma prognostication.
Minca EC et al. Cancer Genet. 2014 Jul-Aug;207(7-8):306-15

Melanomagenesis; multifaceted attacks on the genome.
Bordelon JR, et al. Exp Dermatol. 2014 Nov 24.

The melanoma revolution: from UV carcinogenesis to a new era in therapeutics.
Lo JA, Fisher DE. Science. 2014 Nov 21;346(6212):945-9.

Genetic basis for clinical response to CTLA-4 blockade in melanoma.
Snyder A, et al.  N Engl J Med. 2014 Dec 4;371(23):2189-99.

Updated field synopsis and systematic meta-analyses of genetic association studies in cutaneous melanoma: The MelGene database.
Antonopoulou K,et al. J Invest Dermatol. 2014 Nov 19.

IL28B polymorphism cannot predict response to interferon alpha treatment in patients with melanoma.
Probst M, et al. PLoS One. 2014 Nov 12;9(11):e112613

Melanoma Genomics: Sun Exposure and New Therapies - November 26, 2014

CDC information: Skin cancer is the most common cancer in the United States. Most cases of melanoma, the deadliest kind of skin cancer, are caused by exposure to ultraviolet light

Risk factors for melanoma include genes and family health history, from the National Cancer Institute

A special supplement from Nature Outlook:  Melanoma — the deadliest form of skin cancer is on the rise in many parts of the world. But new treatments, and efforts to tell people how to prevent it, could mean we will soon gain the upper hand on the disease. November, 2014

The cancer that rises with the sun. 
David Holmes Nature, 515, S110–S111, 20 November 2014

Risk factors: Riddle of the rays 
Cassandra Willyard, Nature 515, S112–S113 (20 November 2014)

Epidemiology, risk factors, prevention, and early detection of melanoma.
Azoury SC, Lange JR. Surg Clin North Am. 2014 Oct;94(5):945-62

Did you know? 389 genes have been reported in relation to melanoma risk and outcomes, including 33 genomewide association studies. To find out more, check out the HuGE Navigator

Recent Genomic Insights

Interactions between ultraviolet light and MC1R and OCA2 variants are determinants of childhood nevus and freckle phenotypes. 
Anna E. Barón et al. CEBP, November 18, 2014

Genes and sun behaviors during childhood may play large role in future melanoma risk, American Association for Cancer Research, November 19, 2014

Editorial: Somatic mutations and immunotherapy outcome with CTLA-4 blockade in melanoma. 
NEJM, November 19, 2014.  

Genetic basis for clinical response to CTLA-4 blockade in melanoma. 
NEJM, November 19, 2014

Skin Cancer: Sun Exposure and Genetics - August 7, 2014

The Surgeon General's call to action to prevent skin cancer, July 2014

CDC information: Skin cancer is the most common cancer in the United States. Most cases of melanoma, the deadliest kind of skin cancer, are caused by exposure to ultraviolet (UV) light.

CDC information: Risk factors for skin cancer include family health history-know your family health history

Genetics of skin cancer, from the National Cancer Institute

Did you know? 286 genes have been reported in relation to risk and outcomes of skin cancer, including 17 genomewide association studies and 29 meta analyses. To find out more, visit the HuGE Navigator

Learn about genetic disorders and tests associated with skin cancer from the NIH Genetic Testing Registry