Affiliation: University of Utah
- First-in-human mutation-targeted siRNA phase Ib trial of an inherited skin disorderSancy A Leachman
Department of Dermatology, Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah 84112 5550, USA
Mol Ther 18:442-6. 2010..The callus regression seen on the patient's siRNA-treated foot appears sufficiently promising to warrant additional studies of siRNA in this and other dominant-negative skin diseases...
- Clinical and pathological features of pachyonychia congenitaSancy A Leachman
Department of Dermatology, University of Utah Health Sciences Center, Salt Lake City, Utah 84112 5550, USA
J Investig Dermatol Symp Proc 10:3-17. 2005..Possible pathogenic mechanisms are discussed with respect to the clinicopathologic and genetic correlations observed...
- Therapeutic siRNAs for dominant genetic skin disorders including pachyonychia congenitaSancy A Leachman
Department of Dermatology and Huntsman Cancer Institute, University of Utah, Salt Lake City, UT, United States
J Dermatol Sci 51:151-7. 2008..If clinical efficacy is ultimately demonstrated, this "first-in-skin" siRNA may herald a paradigm shift in the treatment of dominant-negative genetic disorders...
- Pharmacogenetic candidate genes for melanomaChristopher Hull
University of Utah School of Medicine
Pharmacogenomics 4:753-65. 2003..This review will summarize the genetics of melanoma with the goal of providing insights into potential pharmacogenetic candidate genes...
- Selection criteria for genetic assessment of patients with familial melanomaSancy A Leachman
Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah 84112 5550, USA
J Am Acad Dermatol 61:677.e1-14. 2009..The work summarized in this review should help identify individuals who are appropriate candidates for referral for genetic consultation and possible testing...
- Melanoma mimic: a case of multiple pagetoid Spitz neviKalynne Harris
Department of Dermatology, University of Utah, Salt Lake City, UT 84112, USA
Arch Dermatol 148:370-4. 2012..Differentiating Spitz nevi from melanoma can be difficult. Pagetoid spread of melanocytes is among the features making diagnosis difficult. Rare reports of isolated pagetoid Spitz nevi exist...
- Melanocortin 1 receptor genotype: an important determinant of the damage response of melanocytes to ultraviolet radiationAna Luisa Kadekaro
Department of Dermatology, University of Cincinnati College of Medicine, 231 Albert Sabin Way, Cincinnati, OH 45267 0592, USA
FASEB J 24:3850-60. 2010..Our findings highlight the molecular mechanisms by which the melanocortin 1 receptor genotype controls genomic stability of and the mutagenic effect of ultraviolet radiation on human melanocytes...
- Protein phosphorylation in irradiated human melanoma cellsRaymond L Warters
Department of Radiation Oncology, University of Utah Health Sciences Center, Salt Lake City, UT 84132, USA
Radiat Res 168:535-44. 2007..Characterization of these phosphoproteins will require greater enrichment of low-abundance proteins...
- Novel application of a fibrin cell block method to evaluate melanocytic cell populationsScott R Florell
Department of Dermatology, University of Utah Health Sciences Center, Salt Lake City, Utah 84132, USA
Pigment Cell Res 16:662-9. 2003..Preparation of a FCB followed by immunohistochemical staining is an easy and inexpensive way to confirm melanocytic lineage, estimate population purity, and provide a permanent archive of cultured cells...
- Melanoma cells express elevated levels of phosphorylated histone H2AX fociRaymond L Warters
Department of Radiation Oncology, University of Utah Health Sciences Center, Salt Lake City, Utah 85132, USA
J Invest Dermatol 124:807-17. 2005....
- Sampling of melanocytic nevi for research purposes: a prospective, pilot study to determine effect on diagnosisScott R Florell
The Melanoma Program, Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah 84132, USA
J Am Acad Dermatol 59:814-21. 2008..Withholding portions of fresh nevus tissue for molecular studies could result in the loss of important diagnostic material...
- Evaluation of a 7-day continuous intravenous infusion of decitabine: inhibition of promoter-specific and global genomic DNA methylationWolfram E Samlowski
Huntsman Cancer Institute and the Department of Internal Medicine Oncology, University of Utah, Salt Lake City, UT 84112 5550, USA
J Clin Oncol 23:3897-905. 2005..A clinical study was designed to examine the molecular effects and toxicity of a continuous 1-week intravenous infusion of decitabine in solid tumor patients...
- Longitudinal assessment of the nevus phenotype in a melanoma kindredScott R Florell
The Melanoma Program, Huntsman Cancer Institute, University of Utah, 2000 Circle of Hope, Salt Lake City, UT 84112 5550, USA
J Invest Dermatol 123:576-82. 2004..Continued accumulation of nevi in mutation carriers supports a nevogenic role for this CDKN2A mutation. An intermediate nevus phenotype in non-carrier family members suggests the presence of additional modifier genes...
- Histopathologic recognition of involved margins of lentigo maligna excised by staged excision: an interobserver comparison studyScott R Florell
Department of Dermatology, University of Utah Health Sciences Center, 30 North 1900 East, Salt Lake City, UT 84132 2409, USA
Arch Dermatol 139:595-604. 2003....
- CDKN2A/p16 genetic test reporting improves early detection intentions and practices in high-risk melanoma familiesLisa G Aspinwall
Department of Psychology, University of Utah, 380 South 1530 East, Room 502, Salt Lake City, UT 84112 0251, USA
Cancer Epidemiol Biomarkers Prev 17:1510-9. 2008....
- The nuclear matrix shell proteome of human epidermisRaymond L Warters
Department of Radiation Oncology, University of Utah Health Sciences Center, Salt Lake City, UT 84132, United States
J Dermatol Sci 58:113-22. 2010..Proteomic approaches have identified cancer specific biomarker proteins in the nuclear matrix fraction of cancer cells. We wanted to determine whether a similar approach could be used to investigate melanoma biomarkers...
- Molecular classification of melanoma using real-time quantitative reverse transcriptase-polymerase chain reactionTracey B Lewis
Research and Development, ARUP Laboratories Inc, Salt Lake City, Utah, USA
Cancer 104:1678-86. 2005..These markers could have diagnostic utility for the detection of melanoma micrometastasis in sentinel lymph nodes...
- Proliferative nodules in congenital melanocytic nevi: a clinicopathologic and immunohistochemical analysisMark D Herron
Department of Dermatology, University of Utah School of Medicine, 100 North Medical Drive, Salt Lake City, UT 84113, USA
Am J Surg Pathol 28:1017-25. 2004..These findings underscore the similarities between PNs and the underlying CMN and suggest that maturational, proliferative, and apoptotic processes are involved in their clinical evolution...
- Treatment of pachyonychia congenitaLeonard M Milstone
Department of Dermatology, Yale University School of Medicine, New Haven, Connecticut 06520 8059, USA
J Investig Dermatol Symp Proc 10:18-20. 2005..pachyonychia.org/Registry.html)...
- A unique genome-wide association analysis in extended Utah high-risk pedigrees identifies a novel melanoma risk variant on chromosome arm 10qCraig Teerlink
Division of Genetic Epidemiology, Department of Internal Medicine, University of Utah School of Medicine, Salt Lake City, UT 84132, USA
Hum Genet 131:77-85. 2012..Our approach illustrates an example of using high-risk pedigrees for the identification of new melanoma predisposition variants...
- Melanoma genetics: a review of genetic factors and clinical phenotypes in familial melanomaLana Pho
Department of Dermatology, University of Utah Health Sciences Center, Salt Lake City, 84112, USA
Curr Opin Oncol 18:173-9. 2006..Understanding genotype-phenotype and environmental relationships in familial melanoma will likely lead to improved understanding of pathogenesis for all melanoma patients...
- Population-based assessment of non-melanoma cancer risk in relatives of cutaneous melanoma probandsApril A Larson
Department of Dermatology, University of Utah School of Medicine, Salt Lake City, Utah 84108, USA
J Invest Dermatol 127:183-8. 2007..The increased risks for five additional cancer types in first-degree relatives of melanoma cases suggest that individuals with a family history of melanoma should strictly adhere to recommended screenings for all cancers...
- Clinical germline genetic testing for melanomaChristopher B Hansen
Department of Dermatology, University of Utah, UT 84112, USA
Lancet Oncol 5:314-9. 2004....
- N-acetylcysteine protects melanocytes against oxidative stress/damage and delays onset of ultraviolet-induced melanoma in miceMurray A Cotter
Department of Dermatology, Huntsman Cancer Institute, Salt Lake City, Utah 84112, USA
Clin Cancer Res 13:5952-8. 2007..We evaluated whether the thiol antioxidant N-acetylcysteine (NAC) could protect melanocytes from UV-induced oxidative stress/damage in vitro and from UV-induced melanoma in vivo...
- Responses of human cells to ZnO nanoparticles: a gene transcription studyPhilip J Moos
Department of Pharmacology and Toxicology, University of Utah, 30 S 2000 East, Salt Lake City, Utah 84112, USA
Metallomics 3:1199-211. 2011..This provides some of the first data on the effects of commercial metal oxide nanoparticles on human colon-derived and skin-derived cells...
- Patterns of photoprotection following CDKN2A/p16 genetic test reporting and counselingLisa G Aspinwall
Department of Psychology, University of Utah, Salt Lake City, Utah, USA
J Am Acad Dermatol 60:745-57. 2009..The impact of melanoma genetic testing and counseling on photoprotective behaviors is unknown...
- Reflectance spectrophotometer: the dermatologists' sphygmomanometer for skin phototyping?Lynn K Pershing
Department of Dermatology, University of Utah, Salt Lake City, Utah 84108 1806, USA
J Invest Dermatol 128:1633-40. 2008..Thus, RS assessment of constitutive skin color at the upper volar arm provides a quick, noninvasive, precise, and accurate method to objectively determine SPT...
- Multiple primary melanomas in a CDKN2A mutation carrier exposed to ionizing radiationMark J Eliason
Department of Dermatology, Health Sciences Center, University of Utah, Salt Lake City, UT 84112 5550, USA
Arch Dermatol 143:1409-12. 2007..We describe a patient from a familial melanoma pedigree with 7 primary melanomas on the right side of her body, the first occurring 5 years after exposure to atmospheric nuclear bomb testing in the 1950s...
- Metastatic melanoma in pregnancy: risk of transplacental metastases in the infantApril Alexander
Department of Dermatology, University of Utah, 2000 Circle of Hope, Room 5242, Salt Lake City, UT 84112-5550, USA
J Clin Oncol 21:2179-86. 2003..Neonates delivered with concomitant placental involvement should be considered a high-risk population. The risk-benefit ratio of adjuvant treatment for a potentially affected infant should be carefully weighed...
- Activation of dual apoptotic pathways in human melanocytes and protection by survivinTong Liu
Huntsman Cancer Institute, University of Utah Health Sciences Center, Salt Lake City, 84112, USA
J Invest Dermatol 126:2247-56. 2006....
- Biochemotherapy of metastatic melanoma in patients with or without recently diagnosed brain metastasesMartin Majer
Multidisciplinary Melanoma Program, Huntsman Cancer Institute, Salt Lake City, Utah, USA
Cancer 110:1329-37. 2007....
- Population-based analysis of prognostic factors and survival in familial melanomaScott R Florell
Department of Dermatology, Melanoma Program, Huntsman Cancer Institute, University of Utah, Salt Lake City, UT, USA
J Clin Oncol 23:7168-77. 2005..2). CONCLUSION: These data suggest that melanomas occurring in the context of an underlying inherited susceptibility do not have a significantly different biologic behavior...
- Population-based prevalence of CDKN2A mutations in Utah melanoma familiesMark J Eliason
Department of Dermatology, University of Utah Health Sciences Center, Salt Lake City, Utah, USA
J Invest Dermatol 126:660-6. 2006..We observed a significantly elevated rate of pancreatic cancer in one of four families with a deleterious CDKN2A mutation...
- Vulvar melanoma: diffuse melanosis and metastasis to the placentaApril Alexander
Department of Dermatology, University of Utah, Salt Lake City, Utah 84112-5550, USA
J Am Acad Dermatol 50:293-8. 2004..Pregnancy does not alter the incidence or prognosis of melanoma; however, patients with a poor prognosis or high recurrence risk should be informed of potential pregnancy complications associated with melanoma recurrence or metastasis...
- Pancreatic carcinoma surveillance in patients with familial melanomaJana Foley Parker
Department of Dermatology and Huntsman Cancer Institute and the Divisions of Gastroenterology and Oncology, University of Utah, Salt Lake City, Utah 84112, USA
Arch Dermatol 139:1019-25. 2003..Conclusion Patients with melanoma and a germline CDKN2A mutation should be considered for pancreatic adenocarcinoma surveillance that is based on the most recent published studies...
- Management of melanoma during pregnancySancy A Leachman
University of Utah Health Sciences Center, Department of Dermatology, and Huntsman Cancer Institute Melanoma Program, University of Utah, Salt Lake City, UT, USA
Dermatol Nurs 19:145-52, 161. 2007..Treatment of early-stage melanoma is the same irrespective of whether or not the patient is pregnant. Chemotherapeutic regimens for metastatic disease administered during pregnancy have not demonstrated significant efficacy...
- Paternal germ cell mosaicism in autosomal dominant pachyonychia congenitaLana N Pho
Department of Dermatology, University of Utah School of Medicine, Salt Lake City, UT 84132, USA
Arch Dermatol 147:1077-80. 2011....
- Motivating factors for attendance of skin cancer screeningsTyler R Call
Huntsman Cancer Institute, Salt Lake City, Utah 84112, USA
J Am Acad Dermatol 51:642-4. 2004..Little is known about targeting these subgroups. This study investigates the attendance motivations of screening participants, including men 50 years of age and older, who are at heightened risk...
- The use of dermatologic drugs in pregnancy and lactationSancy A Leachman
Tom C. Mathews Jr. Familial Melanoma Research Clinic, Huntsman Cancer Institute, University of Utah, 2000 Circle of Hope, Suite 5242, Salt Lake City, UT 84112, USA
Dermatol Clin 24:167-97, vi. 2006..A discussion of the necessity of considering stages of childbearing in choosing drug therapies introduces the tables. A summary list of cautions spells out the steps physicians should take in treating women of childbearing age...
- The genetic basis of pachyonychia congenitaFrances J D Smith
Epithelial Genetics Group, Human Genetics Unit, Ninewells Hospital and Medical School, University of Dundee, Dundee DD1 9SY, UK
J Investig Dermatol Symp Proc 10:21-30. 2005..Understanding the genetic basis of these disorders allows better counseling for patients and paves the way for therapy development...
- Increased melanocytic nevi and nevus density in a G-34T CDKN2A/p16 melanoma-prone pedigreeScott R Florell
J Invest Dermatol 128:2122-5. 2008
- Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continentsAlisa M Goldstein
Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Bethesda, Maryland 20892 7236, USA
J Med Genet 44:99-106. 2007....
- High-risk melanoma susceptibility genes and pancreatic cancer, neural system tumors, and uveal melanoma across GenoMELAlisa M Goldstein
Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Bethesda, Maryland 20892 7236, USA
Cancer Res 66:9818-28. 2006..This GenoMEL study provides the most extensive characterization of mutations in high-risk melanoma susceptibility genes in families with three or more melanoma patients yet available...
- Single-nucleotide-specific siRNA targeting in a dominant-negative skin modelRobyn P Hickerson
TransDerm Inc, Santa Cruz, California, USA
J Invest Dermatol 128:594-605. 2008..These results suggest that efficient delivery of these "designer siRNAs" may allow effective treatment of numerous genetic disorders including PC...
- Nevus distribution in a Utah melanoma kindred with a temperature-sensitive CDKN2A mutationScott R Florell
J Invest Dermatol 125:1310-2. 2005
- Failure to detect differences in proliferation status of nevi from CDKN2A mutation carriers and non-carriersScott R Florell
J Invest Dermatol 118:386-7. 2002
- Absence of senescence-associated beta-galactosidase activity in human melanocytic nevi in vivoMurray A Cotter
J Invest Dermatol 127:2469-71. 2007
- Phase Ib trial of TD101 siRNA for pachyonychia congenita (IND 77,504, 12-03-07)Sancy Leachman; Fiscal Year: 2009....