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Publication Record


Integrative genetic analysis suggests that skin color modifies the genetic architecture of melanoma.
Hulur I, Skol AD, Gamazon ER, Cox NJ, Onel K
(2017) PLoS One 12: e0185730
MeSH Terms: European Continental Ancestry Group, Gene Frequency, Genetic Loci, Genetic Predisposition to Disease, Genetic Testing, Genetic Variation, Genome-Wide Association Study, Humans, Melanoma, Models, Genetic, Polymorphism, Single Nucleotide, Skin Neoplasms, Skin Pigmentation
Show Abstract · Added October 27, 2017
Melanoma is the deadliest form of skin cancer and presents a significant health care burden in many countries. In addition to ultraviolet radiation in sunlight, the main causal factor for melanoma, genetic factors also play an important role in melanoma susceptibility. Although genome-wide association studies have identified many single nucleotide polymorphisms associated with melanoma, little is known about the proportion of disease risk attributable to these loci and their distribution throughout the genome. Here, we investigated the genetic architecture of melanoma in 1,888 cases and 990 controls of European non-Hispanic ancestry. We estimated the overall narrow-sense heritability of melanoma to be 0.18 (P < 0.03), indicating that genetics contributes significantly to the risk of sporadically-occurring melanoma. We then demonstrated that only a small proportion of this risk is attributable to known risk variants, suggesting that much remains unknown of the role of genetics in melanoma. To investigate further the genetic architecture of melanoma, we partitioned the heritability by chromosome, minor allele frequency, and functional annotations. We showed that common genetic variation contributes significantly to melanoma risk, with a risk model defined by a handful of genomic regions rather than many risk loci distributed throughout the genome. We also demonstrated that variants affecting gene expression in skin account for a significant proportion of the heritability, and are enriched among melanoma risk loci. Finally, by incorporating skin color into our analyses, we observed both a shift in significance for melanoma-associated loci and an enrichment of expression quantitative trait loci among melanoma susceptibility variants. These findings suggest that skin color may be an important modifier of melanoma risk. We speculate that incorporating skin color and other non-genetic factors into genetic studies may allow for an improved understanding of melanoma susceptibility and guide future investigations to identify melanoma risk genes.
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13 MeSH Terms
Nonmelanoma skin and mucosal cancers after hematopoietic cell transplantation.
Leisenring W, Friedman DL, Flowers ME, Schwartz JL, Deeg HJ
(2006) J Clin Oncol 24: 1119-26
MeSH Terms: Acute Disease, Adult, Age Factors, Aged, Analysis of Variance, Carcinoma, Basal Cell, Carcinoma, Squamous Cell, Cohort Studies, Female, Graft vs Host Disease, Hematopoietic Stem Cell Transplantation, Humans, Incidence, Male, Middle Aged, Proportional Hazards Models, Retrospective Studies, Risk Factors, Skin Neoplasms, Skin Pigmentation, Transplantation, Homologous, Whole-Body Irradiation
Show Abstract · Added March 27, 2014
PURPOSE - To evaluate the incidence of and risk factors for basal cell carcinoma (BCC) and squamous cell carcinoma (SCC) in survivors of hematopoietic cell transplantation (HCT).
PATIENTS AND METHODS - The impact of patient-, disease-, treatment-, and toxicity-related factors on risk of BCC and SCC was determined in a retrospective cohort study of 4,810 patients who received allogeneic HCT and who survived for at least 100 days.
RESULTS - Among allogeneic HCT recipients, 237 developed at least one skin or mucosal cancer (BCC, n = 158; SCC, n = 95). Twenty-year cumulative incidences of BCC and SCC were 6.5% and 3.4%, respectively. Total-body irradiation was a significant risk factor for BCC (P = .003), most strongly among patients younger than 18 years old at HCT (P = .02, interaction). Light-skinned patients had an increased risk of BCC (P = .01). Acute graft-versus-host disease (GVHD) increased the risk of SCC (P = .02), whereas chronic GVHD increased the risk of both BCC (P = .01) and SCC (P < .001).
CONCLUSION - This analysis suggests that immutable factors, such as age and complexion, have a significant impact on BCC and SCC. However, specific treatment (radiotherapy) and transplantation complications (GVHD) may modify that risk. These additional risk factors suggest the contribution of immunologic mechanism DNA and tissue repair in the development of BCC and SCC. We confirm previous reports that exposure to ionizing radiation increases the risk of BCC but not SCC. Survivors of HCT should be monitored for the development of BCC and SCC and use preventive strategies.
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22 MeSH Terms