Article
Genetic links between ovarian ageing, cancer risk and de novo mutation rates.
Nature - 1 Sept 2024
Stankovic Stasa, Shekari Saleh, Huang Qin Qin, Gardner Eugene J, Ivarsdottir Erna V, Owens Nick D L, Mavaddat Nasim, Azad Ajuna, Hawkes Gareth, Kentistou Katherine A, Beaumont Robin N, Day Felix R, Zhao Yajie, Jonsson Hakon, Rafnar Thorunn, Tragante Vinicius, Sveinbjornsson Gardar, Oddsson Asmundur, Styrkarsdottir Unnur, Gudmundsson Julius, Stacey Simon N, Gudbjartsson Daniel F, Kennedy Kitale, Wood Andrew R, Weedon Michael N, Ong Ken K, Wright Caroline F, Hoffmann Eva R, Sulem Patrick, Hurles Matthew E, Ruth Katherine S, Martin Hilary C, Stefansson Kari, Perry John R B, Murray Anna
Abstract excerpt
Human genetic studies of common variants have provided substantial insight into the biological mechanisms that govern ovarian ageing1. Here we report analyses of rare protein-coding variants in 106,973 women from the UK Biobank study, implicating genes with effects around five times larger than previously found for common variants (ETAA1, ZNF518A, PNPLA8, PALB2 and SAMHD1). The SAMHD1 association reinforces the...
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