Related Experiment Video
Updated: May 13, 2026
12:37
Pharmacologic Induction of Epidermal Melanin and Protection Against Sunburn in a Humanized Mouse Model
Published on: September 7, 2013
ARLTS1 variants and melanoma risk
Bernd Frank1, Peter Meyer, Melanie Barbara Boettger
1Division of Molecular Genetic Epidemiology, German Cancer Research Center, DKFZ, Heidelberg, Germany. b.frank@dkfz.de
International Journal of Cancer
|April 29, 2006
Summary
The ARLTS1 Cys148Arg gene variant increases melanoma risk in heterozygous carriers. The Trp149Stop variant showed no impact on melanoma risk.
Area of Science:
- Genetics
- Oncology
- Dermatology
Background:
- The ADP-ribosylation factor-like tumor-suppressor gene 1 (ARLTS1) is implicated in familial cancer risk.
- Specific ARLTS1 variants, Cys148Arg and Trp149Stop, have been linked to breast cancer risk.
Purpose of the Study:
- To investigate the association between ARLTS1 gene variants (Cys148Arg and Trp149Stop) and melanoma risk.
- To determine if these variants influence the risk of developing multiple melanomas.
Main Methods:
- Case-control study design.
- Involved 351 melanoma patients and 804 control subjects.
- Genotyping of ARLTS1 variants.
Main Results:
- The ARLTS1 Trp149Stop variant did not significantly affect melanoma risk (OR = 0.83).
- The ARLTS1 Cys148Arg variant was associated with a statistically significant increased risk of melanoma in heterozygous carriers (OR = 1.43, p = 0.02).
- A non-significant trend towards increased risk was observed for individuals with multiple melanomas carrying the Cys148Arg variant (OR = 2.33).
Conclusions:
- The ARLTS1 Cys148Arg variant is a potential risk factor for melanoma development.
- ARLTS1 gene variants may play a role in the genetic predisposition to melanoma.
- Further research is warranted to explore the role of ARLTS1 in melanoma pathogenesis and risk stratification.
More Related Videos
Related Concept Videos
03:18Non-LTR Retrotransposons
As the name suggests, non-LTR retrotransposons lack the long terminal repeats characteristic of the LTR retrotransposons. Additionally, both LTR and non-LTR retrotransposons use distinct mechanisms of mobilization. Non-LTR retrotransposons are further divided into two classes - Long interspersed nuclear elements (LINEs) and short interspersed nuclear elements (SINEs), both of which occur abundantly in most mammals, including humans. Some of the active non-LTR retrotransposons in humans are L1...
02:41Lethal Alleles
Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
02:38The Ras Gene
The Ras-gene-encoded proteins are regulators of signaling pathways controlling cell proliferation, differentiation, or cell survival. The Ras-gene family in humans constitutes three primary members—the HRas, NRas, and KRas. These genes code for four functionally distinct yet closely related proteins—the HRas, NRas, KRas4A, and KRas4B. The involvement of mutant Ras genes in human cancer was first discovered in 1982 and is among the most common causes of human tumorigenesis.
Ras is a superfamily...
Ras is a superfamily...
01:30Skin Cancer
Skin cancer is a type of cancer that occurs when there is an abnormal growth of skin cells, usually triggered by damage to the DNA within the skin cells. It is primarily caused by exposure to ultraviolet (UV) radiation from the sun or artificial sources like tanning beds. Skin cancer is the most common type of cancer worldwide, and its incidence continues to rise.
Basal Cell Carcinoma (BCC): BCC is the most common type of skin cancer, accounting for about 80% of cases. It typically develops in...
Basal Cell Carcinoma (BCC): BCC is the most common type of skin cancer, accounting for about 80% of cases. It typically develops in...
01:29Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
01:11Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...