Polygenic score
Influential genes: MC1R,TYR,CLPTM1L
The MCR1 gene is well established in the context of melanoma risk. This gene controls the type of melanin pigment that is produced by melanocytes: eumelanin or pheomelanin.
The TYR gene codes for an enzyme that plays a key role in the production of melanin, the pigment that gives color to the skin, hair, and eyes.
Variants in the CLPTM1L gene have been associated with an increased risk of several cancers, including melanoma.
Melanoma is a highly aggressive and malignant tumor arising from cells called melanocytes. While it is not the most common skin cancer type, it is the most aggressive one due to its ability to spread to other organs rapidly.
It is the 5th most common cancer in the US, and despite an increased awareness its incidence has increased by an average of 4% every year since the early 1970s.[1;5]
The prevalence of melanoma depends on where you live. The risk of developing melanoma correlates with both genetic and personal characteristics and a person's UV exposure behavior. Melanomas present themselves in many different shapes, sizes, and colors. It is very tricky to self-diagnose them, but it is vital to observe new, changing, or unusual-looking skin lesions on both sun-exposed and protected areas of the body. Women tend to develop melanomas on the legs, whereas, in men, they can be found more often on the trunk. A worldwide method to assess potential melanomas is the so-called "ABCDEs of melanomas". The primary treatment for melanoma is excision, but further treatment depends on the diagnosed stage.
The incidence of melanoma in the white population increased with decreasing latitude, with the highest incidence recorded in Australia. Be extra cautious if any of the following applies to you:
Fair-skinned people naturally have little UV protection. Sunburns at an early age and having a benign skin lesion are also considered risk factors by several epidemiological studies.
Approximately 10% of melanomas are familial, meaning they arise from a genetic background.[2]
Melanoma is a type of disease influenced by more than one single gene. It is estimated that about 10% of melanoma cases are of familial nature. The presence of affected close relatives and positive family history are connected to a higher risk of disease development. Even though most of the genetic changes are represented by somatic mutations, inheritance plays an important role.
Due to the research and technological progress, we already know several genes associated with melanoma, such as:
CDKN2A was the first identified susceptibility melanoma gene, mutations are often found among relatives, and are connected with higher counts of atypical nevus.[4][6]
Despite our current knowledge of the susceptibility genes gained from years of research, the genetic mechanism and pathways are still not fully understood.[3] However, it is important to mention that sun exposure and UV light exposure are suggested to trigger these mutations' expression.
Melanomas often look like brown moles or birthmarks. What makes them different from normal moles is that they have an asymmetric shape, uneven borders, different colors within the same mole, are larger than the eraser on the end of a pencil in diameter, and sometimes they turn into sores that bleed. The worldwide accepted method to recognize melanomas is by using the appearance ABCDE criteria:
A = asymmetry
B = border
C = color
D = diameter (>6mm)
E = evolution (lesion changes in size, shape or color over time)
The clinical recognition of melanoma may be challenging, especially in its early stages. The history of the lesion and risk factors are vital aspects that the doctor investigates to evaluate a mole further. A detailed skin examination, including the visual analysis of the mole based on the ABCDE criteria, searching for the "ugly duckling" (which is the presence of a single lesion that does not match the patient's other nevi), and the history of the changes of the specific mole are all extremely important. The doctor may use dermoscopy to examine all suspicious lesions. Furthermore, a full-thickness excisional biopsy is the gold-standard diagnostic test for melanomas. Finally, the melanoma is rated according to the tumor's thickness, the spread to lymph nodes, and distant metastases.
There are different approaches considering the treatment course for melanoma. Usually, it is treated by surgery, excising the area with cancer and all affected lymph nodes. In addition, doctors may choose to use immunotherapy, targeted therapy, or radiation therapy.
The primary prevention against melanomas is protecting the skin from UV light, as sun exposure and sunburns are significant causes of melanoma. Avoiding sun exposure during the middle of the day (12:00 - 15:00), applying sunscreen before sunbathing, wearing protective clothing, and not using tanning beds are essential steps in preventing melanomas. In addition, you can check for your family history and consider genetic testing to check for genetic mutations that are related to an increased chance of developing melanoma.
The overall 5-year survival rate will depend on the thickness of the primary lesion, whether there was lymph node involvement, and whether the melanoma has spread to distant sites or not. People with "thin melanoma" (<1mm) and with no lymph node involvement have a 99% 5-year survival rate.[9]
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