Variants in the tumor suppressor gene ARLTS1 (ADP-ribosylation factor-like tumor-suppressor gene 1) have been shown to influence familial cancer risk. Both Cys148Arg and Trp149Stop were associated with an increased risk of familial or high-risk familial breast cancer, respectively. We studied the impact of these gene variants on melanoma risk, investigating 351 melanoma patients and 804 control subjects. While ARLTS1 Trp149Stop did not influence melanoma risk (OR = 0.83, 95% CI = 0.37-1.88, p = 0.65), Cys148Arg revealed a statistically significant association with an increased risk for heterozygous carriers (OR = 1.43, 95% CI = 1.05-1.95, p = 0.02). An additional risk enhancement, though statistically non-significant, was observed in individuals with multiple melanomas (OR = 2.33, 95% CI = 0.87-6.26, p = 0.08).
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http://dx.doi.org/10.1002/ijc.22008 | DOI Listing |
Mod Pathol
January 2025
Department of Pathology, Research Institute for Medical Innovation, Radboud university medical center, Nijmegen, The Netherlands; Department of Pathology, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands. Electronic address:
Pancreatic ductal adenocarcinoma (PDAC) is a lethal disease. About 10% of affected individuals have an inherited component. Deleterious germline variants increase the lifetime risk for PDAC and are often associated with an elevated risk for extra-pancreatic malignancies.
View Article and Find Full Text PDFEur J Case Rep Intern Med
November 2024
Department of Lung Diseases and Thoracic Surgery, Pauls Stradins Clinical University Hospital, Riga, Latvia.
Background: Clinically amyopathic dermatomyositis (CADM) is a rare subtype of idiopathic inflammatory myositis often linked with the presence of autoantibodies targeting melanoma differentiation-associated protein 5 (MDA5). Patients with CADM are at increased risk of developing rapidly progressing interstitial lung disease, which significantly increases both morbidity and mortality compared to other forms of inflammatory myopathies. While there is no standardized treatment regimen, current therapeutic strategies are generally focused on combination immunosuppressive therapies.
View Article and Find Full Text PDFSurgery
January 2025
Melanoma Institute Australia, The University of Sydney, North Sydney, NSW, Australia; Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia. Electronic address: https://www.twitter.com/SerineLo.
Eur J Epidemiol
January 2025
Department of Dermatology, Erasmus MC Cancer Institute, Rotterdam, The Netherlands.
Early-stage cutaneous melanoma patients generally have a favorable prognosis, yet a significant proportion of metastatic melanoma cases arise from this group, highlighting the need for improved risk stratification using novel prognostic biomarkers. The Dutch Early-Stage Melanoma (D-ESMEL) study introduces a robust, population-based methodology to develop an absolute risk prediction model for stage I/II melanoma, incorporating clinical, imaging, and multi-omics data to identify patients at increased risk for distant metastases. Utilizing the Netherlands Cancer Registry and Dutch Nationwide Pathology Databank, we collected primary tumor samples from early-stage melanoma patients, with and without distant metastases during follow-up.
View Article and Find Full Text PDFClin Exp Dermatol
December 2024
Department of Dermatology, Medical University of Vienna, Vienna, Austria.
Background: Although ultraviolet radiation is the most important risk factor for skin cancer in general, its role in disease control after the diagnosis of melanoma remains to be elucidated.
Objectives: To analyse the association between survival and self-assessed sun protection behaviour after a melanoma diagnosis.
Methods: This was a questionnaire-based pilot study.
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