World's largest genetic study of moles maps new melanoma risk genes
Researchers at Australia's QIMR Berghofer institute built the largest genetic study of mole count to date, analyzing over 85,000 people. They pinpointed 24 new gene regions tied to how many moles a person has, a fivefold increase over prior work, and flagged more than 250 genes as possible drug targets. Many of these factors appear independent of sun exposure and skin tone.
Australian scientists have built the world's largest genetic map of why some people have far more moles than others, and the findings could reshape how melanoma is caught early. Researchers at QIMR Berghofer analyzed data from more than 85,000 people of European ancestry, identifying 24 new regions of the genome that influence mole count, a fivefold increase over the five regions found in a 2018 study. In total, the team flagged more than 250 genes that warrant closer investigation, many sitting in pathways tied to the immune system and abnormal cell growth. One newly identified gene, SIKE1, normally helps the body respond to viral infections; the researchers suggest that when it malfunctions, the immune system may fail to clear skin cells multiplying abnormally. Many of these genetic factors appear independent of sun exposure, skin color, and pigmentation, pointing toward screening based on a person's genetics. Published in Nature Communications.