Melanoma (Landi, 2020)

picture of woman's back with some freckles

STUDY TITLE: Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility

SUMMARY: Identification of 54 genomic regions associated with melanoma risk.

OVERVIEW: Melanoma is the most serious type of skin cancer. This study compared ~36,000 melanoma patients with ~375,000 healthy individuals of European descent and identified 68 genetic variants in 54 different genomic regions. The study also found associations between cancer risk and lighter skin color as well as a larger number of moles on the body. One of the regions associated with both melanoma and moles is near the PARP1 gene, a DNA repair gene that helps control the melanoma causing gene MITF. Another variant was associated with the HLA region, which suggests a role for immunity in the development of skin cancer. Other genes were involved in telomere maintenance. The genomic regions discovered in this study collectively explain ~8.5% of this condition’s risk heritability.

DID YOU KNOW? There are a lot of warning signs to determine if a spot is just a mole or is actually melanoma. The easiest check is called the “Ugly Duckling” test — if a mole looks different from the other moles on your body like the ugly duckling looked different from its siblings, it’s worth getting checked out! Melanomas are often asymmetric, have unusual borders, have different colors, are large in diameter, or change over time. [SOURCE]

SAMPLE RESULTS: Learn more about the Nebula Research Library.

melanoma sample results

STUDY-ASSOCIATED VARIANTS: rs1805007, rs6059655, rs1126809, rs408825, rs16891982, rs7902587, rs871024, rs132941, rs1801516, rs117132860, rs4354713, rs1339759, rs6914598, rs10739220, rs2695237, rs13178866, rs32578, rs4731207, rs76798800, rs1800440, rs8444, rs4420522, rs149617956, rs143190905, rs72834823, rs10960710, rs12913832, rs1278768, rs117648907, rs3950296, rs10859996, rs78378222, rs12984831, rs113469387, rs4237963, rs7941496, rs5766565, rs2967383, rs1056927, rs6908626, rs6994183, rs12473635, rs12215602, rs79966207, rs7778378, rs670318, rs2369633, rs28986343, rs12539524, rs3780269, rs10931936, rs12290699, rs13263376, rs12523094

ABCDE’s for detecting melanoma (Video)
Where melanoma comes from, how to detect it, and how to prevent it (Video)

WEEKLY UPDATE: May 12, 2020