Cancer Susceptibility Genetic Testing in a High‐Risk Cohort of Urban Ashkenazi Jewish Individuals. Issue 6 (26th June 2018)

• Record Type: Journal Article
• Authors: Nielsen, Sarah M.; De Simone, Lenika M.; Olopade, Olufunmilayo I.
• Is Part Of: Journal of genetic counseling. Volume 27:Issue 6(2018)
• Page Start: 1405
• Page End: 1410
• Publication Date: 2018-06-26
• Subjects: Ashkenazi Jewish -- Hereditary cancer -- Cancer susceptibility genes -- Founder genetic testing -- BRCA1/BRCA2 -- Population‐based screening; Genetic counseling -- Periodicals; 616.042
• DOI: 10.1007/s10897-018-0269-x
• Languages: English
• ISSNs: 1059-7700

Abstract

Abstract: Prior to 2013, genetic testing for Ashkenazi Jewish (AJ) individuals primarily consisted of the three‐site BRCA1/BRCA2 AJ panel, full sequencing of BRCA1/2, or the Lynch syndrome mismatch repair genes. Multigene panel testing became more widely available in 2013, but limited data are available regarding the impact of multigene panel testing for AJ individuals. Here, we report the frequency of cancer susceptibility gene mutations in a cohort of 427 AJ individuals seen in the Cancer Risk Clinic at The University of Chicago. We found that 29% of affected and 37% of unaffected individuals carried a pathogenic mutation (32% of overall cohort), primarily known familial mutations in BRCA1/2 . A minority of mutations were identified in non‐ BRCA1/2 genes and consisted mainly of AJ founder mutations in CHEK2, APC, and the mismatch repair genes. A panel of AJ founder mutations would have identified the majority (94%) of mutations in clinically actionable genes in both affected and unaffected patients. Based on recent cost‐effectiveness studies, offering all AJ individuals a founder mutation panel may be a cost‐effective cancer prevention strategy.