Article
Mutations in BRIP1 confer high risk of ovarian cancer.
Nature genetics - 2 Oct 2011
Rafnar Thorunn, Gudbjartsson Daniel F, Sulem Patrick, Jonasdottir Aslaug, Sigurdsson Asgeir, Jonasdottir Adalbjorg, Besenbacher Soren, Lundin Pär, Stacey Simon N, Gudmundsson Julius, Magnusson Olafur T, le Roux Louise, Orlygsdottir Gudbjorg, Helgadottir Hafdis T, Johannsdottir Hrefna, Gylfason Arnaldur, Tryggvadottir Laufey, Jonasson Jon G, de Juan Ana, Ortega Eugenia, Ramon-Cajal Jose M, García-Prats Maria D, Mayordomo Carlos, Panadero Angeles, Rivera Fernando, Aben Katja K H, van Altena Anne M, Massuger Leon F A G, Aavikko Mervi, Kujala Paula M, Staff Synnöve, Aaltonen Lauri A, Olafsdottir Kristrun, Bjornsson Johannes, Kong Augustine, Salvarsdottir Anna, Saemundsson Hafsteinn, Olafsson Karl, Benediktsdottir Kristrun R, Gulcher Jeffrey, Masson Gisli, Kiemeney Lambertus A, Mayordomo Jose I, Thorsteinsdottir Unnur, Stefansson Kari
Abstract excerpt
Ovarian cancer causes more deaths than any other gynecologic malignancy in developed countries. Sixteen million sequence variants, identified through whole-genome sequencing of 457 Icelanders, were imputed to 41,675 Icelanders genotyped using SNP chips, as well as to their relatives. Sequence variants were tested for association with ovarian cancer (N of affected individuals = 656). We discovered a rare (0.41%...
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