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Background  Although management guidelines exist for several genes associated with a 2‐fold to 5‐fold increase in the relative risk for certain cancers, the value of testing for them remains controversial.    Methods  De‐identified personal and family history data for 654 individuals with pathogenic variants (PVs) in  PALB2 ,  ATM ,  CHEK2 ,  NBN ,  BRIP1 ,  RAD51C , and/or  RAD51D  were analyzed for pretest and post‐test candidacy for guideline‐recommended management of cancer risk. These individuals were invited to complete a survey about provider recommendations and their adherence.    Results  Twenty‐four percent of  CHEK2 ,  ATM ,  PALB2 , or  NBN  PV carriers were appropriate for consideration of annual breast magnetic resonance imaging screening before genetic testing, with the remaining 76% appropriate only after testing. No  BRIP1 ,  RAD51C , or  RAD51D  PV carriers were appropriate for consideration of risk‐reducing salpingo‐oophorectomy before genetic testing; 100% were appropriate only after testing. Seventeen percent of  CHEK2  PV carriers were appropriate for earlier and more frequent colonoscopy before genetic testing, with the remaining 83% appropriate only after testing. Provider recommendations for annual breast magnetic resonance imaging, consideration of risk‐reducing salpingo‐oophorectomy, and earlier and more frequent colonoscopy were reported by 42%, 26%, and 66% of breast, ovarian, and colorectal cancer risk PV carriers, respectively, before genetic testing, versus 82%, 79%, and 81%, respectively, after testing. Nearly all respondents had planned or undertaken provider‐recommended management.    Conclusions  Testing for  PALB2 ,  ATM ,  CHEK2 ,  NBN ,  BRIP1 ,  RAD51C , and  RAD51D  changed management for those carrying PVs. Provider recommendations were aligned with guidelines, and patients adhered to recommendations, both of which are critical for reducing both long‐term cancer morbidity and mortality.

cancer

Clinical utility of hereditary cancer panel testing: Impact of  PALB2 ,  ATM ,  CHEK2 ,  NBN ,  BRIP1 ,  RAD51C , and  RAD51D  results on patient management and adherence to provider recommendations