Article
Gene-based burden tests of rare germline variants identify six cancer susceptibility genes.
Nature genetics - 1 Nov 2024
Ivarsdottir Erna V, Gudmundsson Julius, Tragante Vinicius, Sveinbjornsson Gardar, Kristmundsdottir Snaedis, Stacey Simon N, Halldorsson Gisli H, Magnusson Magnus I, Oddsson Asmundur, Walters G Bragi, Sigurdsson Asgeir, Saevarsdottir Saedis, Beyter Doruk, Thorleifsson Gudmar, Halldorsson Bjarni V, Melsted Pall, Stefansson Hreinn, Jonsdottir Ingileif, Sørensen Erik, Pedersen Ole B, Erikstrup Christian, Bøgsted Martin, Pøhl Mette, Røder Andreas, Stroomberg Hein Vincent, Gögenur Ismail, Hillingsø Jens, Bojesen Stig E, Lassen Ulrik, Høgdall Estrid, Ullum Henrik, Brunak Søren, Ostrowski Sisse R, Sonderby Ida Elken, Frei Oleksandr, Djurovic Srdjan, Havdahl Alexandra, Moller Pal, Dominguez-Valentin Mev, Haavik Jan, Andreassen Ole A, Hovig Eivind, Agnarsson Bjarni A, Hilmarsson Rafn, Johannsson Oskar Th, Valdimarsson Trausti, Jonsson Steinn, Moller Pall H, Olafsson Jon H, Sigurgeirsson Bardur, Jonasson Jon G, Tryggvason Geir, Holm Hilma, Sulem Patrick, Rafnar Thorunn, Gudbjartsson Daniel F, Stefansson Kari
Abstract excerpt
Discovery of cancer risk variants in the sequence of the germline genome can shed light on carcinogenesis. Here we describe gene burden association analyses, aggregating rare missense and loss of function variants, at 22 cancer sites, including 130,991 cancer cases and 733,486 controls from Iceland, Norway and the United Kingdom. We identified four genes associated with increased cancer risk; the pro-apoptotic...
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