Melanoma develops from the pigment-containing cells in the skin which is known as melanocytes. Melanoma usually occurs on normal skin, but can also occur in the mouth, intestines or in the eyes. It can be characterized as sudden appearance or rapid growth of the numerous pigmented macules, deepening in color, surrounded by stellate nodules or pigmented rings, local pain, infection, ulcers or bleeding and enlarged lymph nodes. Prolonged exposure of skin cells to the ultraviolet light can cause damage to genetic material in skin cells, which may result in uncontrolled cell growth and development of cancer. The pigment can protect skin cell and block UV radiation from damaging DNA. Due to UV radiation, cutaneous melanomas show a markedly elevated base mutation rate compared to other solid tumors because of the increasing cytidine to thymidine (C > T) transitions.
The mutations in NRAS result in abnormally sustained activation of downstream genes such as Raf kinase. And the mutations in BRAF gene can affect tumor proliferation, growth and differentiation. Pathogenic variant in NRAS, BRAF and other common genetic aberrations, such as PTEN and TP53 genes may increase the risk of malignant melanoma. The inactivation of NF1, which is a negative regulator of RAS signaling, may activate aberrant mitogen-activated protein kinase (MAPK) pathway. CDKN2A is a suppressor gene for melanoma tumor encoding two tumor suppressor proteins by variable splicing. One of them is p16INK4a, a cyclin-dependent kinase inhibitor, and the other is p14ARF, which activates p53 through inhibiting the expression of MDM2. In addition to these well-known cancer genes, new candidates (PPP6C, RAC1, SNX31, TACC1, STK19 and ARID2) were also reported to be the significantly mutated melanoma genes.
Our custom melanoma panel platform offers a comprehensive melanoma gene panel, from which you can choose the genes only associated with your researches. Amplicon sequencing technology that enables deep sequencing at high coverage levels is provided. Our customized melanoma panel can be applied to efficiently discover, validate and screen genetic variants among the melanoma genes to help research the new therapeutic strategies of melanoma biology.
For more information about the Custom Melanoma Panel or need other amplification requirements, please contact us.