Article
Multiplex melanoma families are enriched for polygenic risk.
Human molecular genetics - 10 Oct 2020
Law Matthew H, Aoude Lauren G, Duffy David L, Long Georgina V, Johansson Peter A, Pritchard Antonia L, Khosrotehrani Kiarash, Mann Graham J, Montgomery Grant W, Iles Mark M, Cust Anne E, Palmer Jane M, Shannon Kerwin F, Spillane Andrew J, Stretch Jonathan R, Thompson John F, Saw Robyn P M, Scolyer Richard A, Martin Nicholas G, Hayward Nicholas K, MacGregor Stuart
Abstract excerpt
Cancers, including cutaneous melanoma, can cluster in families. In addition to environmental etiological factors such as ultraviolet radiation, cutaneous melanoma has a strong genetic component. Genetic risks for cutaneous melanoma range from rare, high-penetrance mutations to common, low-penetrance variants. Known high-penetrance mutations account for only about half of all densely affected cutaneous melanoma...
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