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Related Concept Videos

Skin Cancer01:30

Skin 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...
Skin Diseases and Disorders01:23

Skin Diseases and Disorders

Skin is the first line of defense and encounters a variety of microbes. Some pathogenic strains are often the cause of a broad range of infections of the skin and other body systems. These conditions can affect people of all ages and may have different causes, including genetic factors, infections, autoimmune reactions, environmental factors, and lifestyle choices.
Gram-positive Staphylococcus spp. and Streptococcus spp. are responsible for many of the most common skin infections. However, many...
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
Pigmentation01:19

Pigmentation

The color of the skin is influenced by a number of pigments, including melanin, carotene, and hemoglobin. Recall that melanin is produced by cells called melanocytes, which are found scattered throughout the stratum basale of the epidermis. The melanin is transferred to the keratinocytes via melanosomes.
Melanin occurs in two primary forms: eumelanin that provides black and brown pigment and pheomelanin that provides red color. Dark-skinned individuals produce more melanin than those with pale...
Cancers Originate from Somatic Mutations in a Single Cell02:21

Cancers Originate from Somatic Mutations in a Single Cell

Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...

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Related Experiment Video

Updated: Jun 10, 2026

Spatial and Temporal Control of Murine Melanoma Initiation from Mutant Melanocyte Stem Cells
06:09

Spatial and Temporal Control of Murine Melanoma Initiation from Mutant Melanocyte Stem Cells

Published on: June 7, 2019

Familial cutaneous melanoma.

Johan Hansson1

  • 1Department of Oncology-Pathology, Karolinska Institutet, Karolinska University Hospital Solna S-171 76, Stockholm, Sweden. johan.hansson@ki.se

Advances in Experimental Medicine and Biology
|August 7, 2010
PubMed
Summary

Hereditary melanoma predisposition is often linked to CDKN2A gene mutations, affecting cell cycle regulation. These mutations increase melanoma risk, particularly in sun-exposed areas, and may also raise the risk of pancreatic cancer.

Area of Science:

  • Genetics
  • Oncology
  • Dermatology

Background:

  • Hereditary melanoma accounts for 5-10% of all cutaneous melanomas.
  • Germline mutations in the CDKN2A gene are found in 20-40% of familial melanoma cases worldwide.
  • CDKN2A encodes p16INK4 and p14ARF, crucial for cell cycle control and senescence.

Purpose of the Study:

  • To review the genetic basis of hereditary melanoma, focusing on CDKN2A and CDK4 mutations.
  • To discuss the varying melanoma risk associated with CDKN2A mutations across populations.
  • To highlight the association of CDKN2A mutations with other cancers, such as pancreatic carcinoma.

Main Methods:

  • Literature review of studies on hereditary melanoma and associated gene mutations.
  • Analysis of population-specific CDKN2A founder mutations.

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  • Examination of the clinical implications and management strategies for affected families.

    • Main Results:

    • CDKN2A mutations are a primary cause of hereditary melanoma predisposition.
    • Melanoma risk in mutation carriers is influenced by geographic location and sun exposure levels.
    • CDKN2A mutations are also linked to an elevated risk of pancreatic cancer.

    Conclusions:

    • CDKN2A gene mutations are significant drivers of hereditary melanoma.
    • Management of hereditary melanoma families requires consideration of genetic risk and associated malignancies.
    • Further research into population-specific risks and management is warranted.