caa a22 4500 605545081 CHVBK 20210128100934.0 cr unu---uuuuu 210128e20150401xx s 000 0 eng 10.1007/s10897-014-9762-z doi (NATIONALLICENCE)springer-10.1007/s10897-014-9762-z To Reflex or Not: Additional BRCA1/2 Testing in Ashkenazi Jewish Individuals Without Founder Mutations [Elektronische Daten] [Nancie Petrucelli, Sarah Mange, Jennifer Fulbright, Lindsay Dohany, Dana Zakalik, Debra Duquette] This study determined the prevalence of non-Ashkenazi Jewish BRCA1/2 mutations in the Ashkenazi Jewish population in the state of Michigan, current provider testing practices, and the use of mutation probability models in determining which Ashkenazi Jewish individuals should be offered further analysis following negative BRCA1/2 founder testing. Testing patterns, mutation probabilities, and testing results were assessed for 327 Ashkenazi Jewish individuals seen for BRCA1/2 counseling in the state of Michigan who underwent testing for the Ashkenazi Jewish founder mutations. Only one (0.6%) Ashkenazi Jewish individual with sequencing after negative founder analysis was found to have a non-founder mutation; no rearrangements were identified. Testing patterns varied by clinic, with the proportion of Ashkenazi Jewish individuals undergoing additional sequencing ranging from 22.2 to 92.9%. In Ashkenazi Jewish individuals with a pre-test BRCAPRO risk calculation, the mean risk was significantly higher in those with follow-up sequencing compared to those who did not pursue additional testing. The low prevalence of non-founder BRCA1/2 mutations in Ashkenazi Jewish individuals does not warrant automatically reflexing to full analysis after negative mutation testing. Increased use of mutation probability models may aid in determining which cases warrant additional testing. National Society of Genetic Counselors, Inc., 2014 BRCA1/2 nationallicence Ashkenazi Jewish nationallicence Sequencing nationallicence Large rearrangement analysis nationallicence Petrucelli Nancie Cancer Genetic Counseling Service, Karmanos Cancer Institute, 4100 John R, HPO3GC, 48201, Detroit, MI, USA aut Mange Sarah Lifecourse Epidemiology and Genomics Division, Michigan Department of Community Health, Lansing, MI, USA aut Fulbright Jennifer Cancer Genetics Program, Beaumont Health System, Royal Oak, MI, USA aut Dohany Lindsay Cancer Genetics Program, Beaumont Health System, Royal Oak, MI, USA aut Zakalik Dana Cancer Genetics Program, Beaumont Health System, Royal Oak, MI, USA aut Duquette Debra Lifecourse Epidemiology and Genomics Division, Michigan Department of Community Health, Lansing, MI, USA aut Journal of Genetic Counseling Springer US; http://www.springer-ny.com 24/2(2015-04-01), 285-293 1059-7700 24:2<285 2015 24 10897 https://doi.org/10.1007/s10897-014-9762-z text/html Onlinezugriff via DOI BK010053 XK010053 XK010000 Metadata rights reserved Springer special CC-BY-NC licence nationallicence 1 research-article jats NATIONALLICENCE NATIONALLICENCE NL-springer NATIONALLICENCE 856 40 https://doi.org/10.1007/s10897-014-9762-z text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Petrucelli Nancie Cancer Genetic Counseling Service, Karmanos Cancer Institute, 4100 John R, HPO3GC, 48201, Detroit, MI, USA aut NATIONALLICENCE 700 1- Mange Sarah Lifecourse Epidemiology and Genomics Division, Michigan Department of Community Health, Lansing, MI, USA aut NATIONALLICENCE 700 1- Fulbright Jennifer Cancer Genetics Program, Beaumont Health System, Royal Oak, MI, USA aut NATIONALLICENCE 700 1- Dohany Lindsay Cancer Genetics Program, Beaumont Health System, Royal Oak, MI, USA aut NATIONALLICENCE 700 1- Zakalik Dana Cancer Genetics Program, Beaumont Health System, Royal Oak, MI, USA aut NATIONALLICENCE 700 1- Duquette Debra Lifecourse Epidemiology and Genomics Division, Michigan Department of Community Health, Lansing, MI, USA aut NATIONALLICENCE 773 0- Journal of Genetic Counseling Springer US; http://www.springer-ny.com 24/2(2015-04-01), 285-293 1059-7700 24:2<285 2015 24 10897