Genes Causing Melanomas
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Published: Fri, 25 May 2018
Melanoma is a type of skin cancer. It is the most dangerous type of skin cancer that produced a dark pigment on skin. Melanocytes are the cells that are involved and responsible for the person’s skin and hair color which produce a skin pigment called melanin. Melanoma can be seen on skin which starts with a mole and eventually gets larger and can spread thru other parts of the body. It can also be seen on the colored part of the eye which can also be called as the melanoma of the eye. Skin cancer is the uncontrolled growth of abnormal skin cells and if left untreated it can spread throughout the skin into other tissues and organs (Kantor, et al., 2009).
This topic focuses on genes that are responsible for mutation that causes melanoma. Human genes such as BRCA1 and BRCA2 are known as tumor suppressors. BRCA stands for breast cancer susceptibility 1 and 2. The normal function BRCA1 and BRCA2 stabilize the cell’s DNA which prevent the uncontrollable growth of the cells. If these genes mutate uncontrollably it can lead to melanoma or other types of cancers such as ovarian or breast cancer. People with harmful BRCA2 genes can increase the risk of cancers such as melanoma. Harmful mutations of either BRCA 1 or 2 are about five times more likely to develop various cancers than a person who does not have such a mutation. Researchers do their research based on large families with mutations of BRCA1 or 2 and are affected by cancers. By studying those families, BRCA1 and 2 mutations are calculated, since those families share a proportion of their genes and it is possible to see large number of cancer cases which can be due to genetic or environmental factors. Risks are just estimates based on families with many are affected by cancers, but not accurately reflect the levels for BRCA 1 or 2 mutation carriers in the population.
BRCA1 and BRCA2 mutations are more common in certain population. These genes are most common in the Ashkenazi Jewish people. In one study, 120 out of 5,318 carried these BRCA1 and BRCA2 mutations. This make the frequency five times higher compare to other ethnic groups. Researchers are not sure if there’s relevancy between an increase frequency in mutations and an increase of risk in developing cancers in comparison with Jewish populations to non-Jewish populations (Warner, E., et al., 1999). Other ethnic groups such as Icelandic and Dutch have shown higher frequencies on BRCA1 and BRCA2 mutation and limited data for Caucasians, Hispanics, African Americans, and non-Hispanic whites (John, EM., et al., 2007).
In testing for BRCA1 and BRCA2, geneticists would look for changes in protein produced by BRCA1 and BRCA2 genes. Doctors would take blood samples and it requires weeks or longer to get the results. There is no requirement for having your genes tested. It would be apply to people with history of any cancer such as breast cancer, ovarian cancer, or melanoma. Genetic counseling is also offered right before a genetic test, which involves assessment of the patient and any further information. A positive result for BRCA1 and BRCA2 genes mutation indicates that a person inherited a harmful mutation of BRCA1 or BRCA2. That indicates a person with a high risk of developing certain cancers such as melanoma.
There are four different kinds of melanoma. First one is the superficial spreading melanomas, which is the most common type and usually have flat, irregular shape, black or brown shades, and common in Whites (Caucasians). This type of melanoma can occur at any body types or at any age of the person. The second type of melanoma is the nodular melanoma, which has a blackish-blue or bluish-red dark color pigment on a particular area, but some people do not show any color or appearance on skin. The third type of melanoma is the lentigo melanoma, which is common on neck, arms, face, and elderly people. The appearance on skin would be brown, flat, and large on that particular area. The fourth type of melanoma is the arcal lentiginous melanoma, which is not very common and can be seen on palms and under the nail. This type of melanoma is very common to African Americans or Blacks.
Melanoma can be seen in the iris or the retina of the eye. It can also appear in other parts of the body such as the mouth, and rarely develop in esophagus, small intestine, liver, vagina, and some other more. Once this cancer proliferates in your body, it can spread quickly. Though this skin cancer is not common, it is very fatal and can affect young individuals or even healthy people. There are factors that increase the risk of melanoma, such as, exposing your skin too much on sunlight, overuse of tanning beds, or blistering sunburns. Other risk factors are genetically related like if your family has a history of melanoma. Other symptoms can also appear such as lumps, moles, or any abnormal growths on the skin. Pigmented skin or discoloration of some other parts of the skin can also be an early warning sign. Abnormal bleeding of the skin can also be a factor.
There are other things that can help you determine other symptoms. Clinical symptoms like the infected area are different from other parts of the skin and or the lesion or growth has irregularity. There are also some changes on your skin color texture like that particular area of your skin would appear black, or tan, sometimes bluish or reddish color. The change of size can also be seen which gets larger and larger overtime. In able for doctors to determine your case, he or she will perform a biopsy on a small area of the growth or even the entire growth. It can also be diagnosed by performing CT scans or x-ray tests on patients to see if the cancer has spread.
The cancerous part of the skin will be surgically removed and will be checked how deep the melanoma has grown. Patients with spread melanomas will undergo in more difficult treatments, such as, chemotherapy, radiation therapy, and medications such as interferon or interleukin, which increases the immune system that will help the body to fight the cancer. This type of treatment is called immunotherapy and side effects can be very difficult to tolerate (Goodson, et al., 2009). The treatment success depends on patient’s health or if the cancer is not totally spread especially to the lymph nodes or other organs. If the patient’s melanoma is detected early, it can be cured by many available treatments. Tumors that had grown deeply will most likely to come back or if the cancer is deeper than 4millimeter or if it spread through the lymph nodes, it is most likely will spread to other tissues or organs of the body. If the patient’s melanoma has spread throughout the skin, lymph nodes, organs, or beyond the skin, treatments would be very difficult and at this point, metastasize melanoma is not curable.
There are many complications that occur in patients’ with melanoma. These include deep tissue damage, metastasize cancer, and side effects such as, hair loss, fatigue, nausea, and severe pain. There are available preventative guidelines such as applying a sunscreen with SPF 30 or higher onto a person’s skin, avoiding tanning salons, and minimize sun exposure especially during the summer. Protective clothing such as long sleeves, hats, or sunglasses will help.
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