453 THE ASSOCIATION OF GENITOURINARY CANCERS WITH BRCA CARRIER STATUS IN A CLINICALLY TESTED COHORT FROM A SINGLE INSTITUTION (2013)

You have accessJournal of UrologyKidney Cancer: Basic Research (III)1 Apr 2013453 THE ASSOCIATION OF GENITOURINARY CANCERS WITH BRCA CARRIER STATUS IN A CLINICALLY TESTED COHORT FROM A SINGLE INSTITUTION Shaheen Alanee, Kasmintan Schrader, Kara Sarrel, Rohini Rau-Murthy, Christopher Manschreck, Mark Robson, James Eastham, and Kenneth Offit Shaheen AlaneeShaheen Alanee New York, NY , Kasmintan SchraderKasmintan Schrader New York, NY , Kara SarrelKara Sarrel New York, NY , Rohini Rau-MurthyRohini Rau-Murthy New York, NY , Christopher ManschreckChristopher Manschreck New York, NY , Mark RobsonMark Robson New York, NY , James EasthamJames Eastham New York, NY , and Kenneth OffitKenneth Offit New York, NY View All Author Informationhttps://doi.org/10.1016/j.juro.2013.02.1844AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookTwitterLinked InEmail INTRODUCTION AND OBJECTIVES Germline mutations in BRCA1 and BRCA2 cause Hereditary Breast and Ovarian Cancer. In addition these tumor suppressor genes are implicated in the etiology of other malignancies. Herein, we report the association between BRCA1/2 and genitourinary malignancies in a large clinically tested cohort. METHODS Between 1996 and 2012, 6830 patients referred to the MSKCC clinical genetics service undertook genetic testing for BRCA1/2 mutations based on their personal or family history of breast and ovarian cancer, or based on a previously identified family mutation. Patients with a history of genitourinary malignancies at the time of genetic testing were identified. Fisher exact and Mann-Whitney tests were used to examine the association between the carrier status of BRCA1/2 mutations and personal history of genitourinary malignancies. RESULTS Of the 6830 patients examined, 1297 (18.9%) patients were carriers of BRCA1/2 mutations. The majority of individuals tested were female (91% of carriers and 95% of non-carriers) and Caucasian (93% of carriers and 91% of non-carriers). At the time of testing, 15 (1%) and 42 (0.8%), patients provided a history of genitourinary malignancies in the BRCA carrier and non carrier cohorts, respectively. Of the carriers, prostate cancer occurred in 6% of males, bladder cancer in 2% of males and 0.1% of females, kidney cancer in 0.3% of females and no males, and testicular cancer occurred in 1% of males. The percentage of BRCA1/2 carriers with genitourinary cancers was not significantly different from that of non-carriers by cancer type (Two tailed P value=0.7 for prostate, 0.1 for kidney, 0.8 for bladder, and 0.08 for testis), however, subset analysis by mutations showed kidney cancer to be significantly associated with the BRCA1 Ashkenazi Jewish founder mutation (185delAG) (OR 12.71, CI: 1.453 - 152.4: P=0.02). CONCLUSIONS In our series of patients referred for BRCA1/2 testing, only the BRCA1 mutation (185delAG) was associated with an increased risk of genitourinary (kidney) cancer. As 185delAG is a common mutation in Ashkenazim as well as non-Jewish Eastern Europeans, replication of this association and possible genotype-phenotype correlations can be explored in more heterogeneous populations. Limitations of this study include the retrospective nature of data, and possible ascertainment bias resulting in the relatively small number of cases of genitourinary malignancies. © 2013 by American Urological Association Education and Research, Inc.FiguresReferencesRelatedDetails Volume 189Issue 4SApril 2013Page: e186 Advertisement Copyright & Permissions© 2013 by American Urological Association Education and Research, Inc.Metrics Author Information Shaheen Alanee New York, NY More articles by this author Kasmintan Schrader New York, NY More articles by this author Kara Sarrel New York, NY More articles by this author Rohini Rau-Murthy New York, NY More articles by this author Christopher Manschreck New York, NY More articles by this author Mark Robson New York, NY More articles by this author James Eastham New York, NY More articles by this author Kenneth Offit New York, NY More articles by this author Expand All Advertisement Advertisement PDF downloadLoading ...