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After conducting research on melanoma, a group of scientists has more than doubled the known number of regions that influence the risk of developing melanoma. The research, co-chaired by QIMR Berghofer, the University of Leeds in the United Kingdom, and the National Cancer Institute in the United States, was published today in the prestigious journal Nature Genetics.
The joint study leader and QIMR statistical geneticist Berghofer, associate professor Matthew Law, said the researchers identified 33 new regions of the genome and confirmed 21 other previously reported regions that are related to a person’s risk of developing skin melanoma. “Two of the new regions have previously been linked to autoimmune disorders, providing additional evidence that the immune system plays an important role in a person who develops melanoma,” said associate professor Law.
“We also found an association between melanoma and the common genetic variants in the TP53 gene, which is a critical gene for controlling DNA repair when cells divide and for suppressing cancer,” added Law. UK-based co-author Dr. Mark Iles of the University of Leeds Institute for Data Analysis said researchers examined the DNA of 37,000 people who had been diagnosed with melanoma and compared their genetic information with that of almost 400,000 people with no record. of the illness
“The large population sample allowed us to recognize which regions of the genome were active in people with melanoma,” said Dr. Iles. “The population sample we use is three times larger than any previous genetic study on melanoma risk and gives us great confidence that the new regions we have discovered play a role in the disease.” Dr. Iles said.
“It is a product of power in numbers. The only way to discover these things is to have a study population so large that it spans the world, and we urge more people to enroll in these large melanoma research projects,” he added. Iles. Melanoma begins in melanocytes, cells in the skin responsible for producing the melanin pigment that gives the skin its color.
Melanin can block some of the harmful effects of UV radiation, which is why people with pale skin have an increased risk of skin cancer, but the protection is not complete. Moles also develop from melanocytes, and having a high number of moles is a factor risk for melanoma. Dr. Maria Teresa Landi, co-author of the study and principal investigator of the US National Cancer Institute. The US, part of the National Institutes of Health, said the research also uncovered other important clues to the genetic causes of melanoma.
“We used the relationship between moles, pigmentation, and melanoma to identify 31 additional genetic regions that potentially influence the risk of melanoma. For example, one of the regions we identified is involved in the growth of melanocytes,” said Dr. Landi. “In addition, we also include people from Mediterranean populations involved in the MelaNostrum Consortium. Most melanoma studies use people of Northern or Western European (eg British) descent and by expanding our analysis to include Mediterranean populations, we will obtain a better understanding of melanoma genetics in this highly sun-exposed group, “said Landi.
“Larger data sets are needed to find additional genes that influence melanoma risk, and in parallel, we need functional studies to determine the exact mechanisms that lead to these genes causing melanoma,” Landi added. The researchers said the study reaffirmed the importance of protecting the skin from the sun by avoiding exposure to UV rays between 10 a.m. and at 4 p.m., seek shade, cover exposed skin, and use sunscreen. (AND ME)
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