Article
Association of BRCA2 K3326* With Small Cell Lung Cancer and Squamous Cell Cancer of the Skin.
Journal of the National Cancer Institute - 1 Sept 2018
Rafnar Thorunn, Sigurjonsdottir Gudbjorg R, Stacey Simon N, Halldorsson Gisli, Sulem Patrick, Pardo Luba M, Helgason Hannes, Sigurdsson Stefan T, Gudjonsson Thorkell, Tryggvadottir Laufey, Olafsdottir Gudridur H, Jonasson Jon G, Alexiusdottir Kristin, Sigurdsson Asgeir, Gudmundsson Julius, Saemundsdottir Jona, Sigurdsson Jon K, Johannsdottir Hrefna, Uitterlinden Andre, Vermeulen Sita H, Galesloot Tessel E, Allain Dawn C, Lacko Martin, Sigurgeirsson Bardur, Thorisdottir Kristin, Johannsson Oskar T, Sigurdsson Fridbjorn, Ragnarsson Gunnar B, Isaksson Helgi, Hardardottir Hronn, Gudbjartsson Tomas, Gudbjartsson Daniel F, Masson Gisli, Kiemeney Lambertus A M L, Ewart Toland Amanda, Nijsten Tamar, Peters Wilbert H M, Olafsson Jon H, Jonsson Steinn, Thorsteinsdottir Unnur, Thorleifsson Gudmar, Stefansson Kari
Abstract excerpt
Background: Most pathogenic mutations in the BRCA2 gene carry a high risk of hereditary breast and ovarian cancer (HBOC). However, a stop-gain mutation, K3326* (rs11571833), confers risk of lung cancer and cancers of the upper-aero-digestive tract but only a modest risk of breast or ovarian cancer. The Icelandic population provides an opportunity for comprehensive characterization of the cancer risk profiles of...
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