Article
The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium.
Journal of medical genetics - 1 Jan 2018
Moghadasi Setareh, Meeks Huong D, Vreeswijk Maaike Pg, Janssen Linda Am, Borg Åke, Ehrencrona Hans, Paulsson-Karlsson Ylva, Wappenschmidt Barbara, Engel Christoph, Gehrig Andrea, Arnold Norbert, Hansen Thomas Van Overeem, Thomassen Mads, Jensen Uffe Birk, Kruse Torben A, Ejlertsen Bent, Gerdes Anne-Marie, Pedersen Inge Søkilde, Caputo Sandrine M, Couch Fergus, Hallberg Emily J, van den Ouweland Ans Mw, Collée Margriet J, Teugels Erik, Adank Muriel A, van der Luijt Rob B, Mensenkamp Arjen R, Oosterwijk Jan C, Blok Marinus J, Janin Nicolas, Claes Kathleen Bm, Tucker Kathy, Viassolo Valeria, Toland Amanda Ewart, Eccles Diana E, Devilee Peter, Van Asperen Christie J, Spurdle Amanda B, Goldgar David E, García Encarna Gómez
Abstract excerpt
BACKGROUND: We previously showed that the BRCA1 variant c.5096G>A p.Arg1699Gln (R1699Q) was associated with an intermediate risk of breast cancer (BC) and ovarian cancer (OC). This study aimed to assess these cancer risks for R1699Q carriers in a larger cohort, including follow-up of previously studied families, to further define cancer risks and to propose adjusted clinical management of female BRCA1*R1699Q...
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