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Background   CHEK2  has been recognized as a breast cancer risk gene with moderate effect. Women who have previously tested negative for a  BRCA1/2  gene germline pathogenic variant may benefit from additional genetic testing for the  CHEK2  c.1100del pathogenic variant. The aims of this study were: 1) to assess the uptake of an active approach by recontacting  BRCA1/2 -negative women for additional  CHEK2  c.1100del testing on stored DNA-samples and 2) to explore patients’ experiences with this approach.    Methods  Between 2015 and 2017, women who had been tested earlier negative for  BRCA1/2  germline pathogenic variants, were recontacted for additional  CHEK2  c.1100del testing on stored DNA-samples, free-of-charge. They received an information letter about the  CHEK2  pathogenic variant and could return an informed consent form when they opted for additional genetic testing. Those in whom the  CHEK2  pathogenic variant was absent, received a letter describing this result. Those who tested positive, were invited for a personal counseling at the department of genetics. On average 21 months (range 4–27) after the genetic test result, a questionnaire was sent to all identified carriers and a control group of women who tested negative for the pathogenic variant to explore patients’ experiences with our approach.    Results  In total, 70% ( N  = 1666) of the  N  = 2377 women contacted opted for additional testing, and 66 (4%) of them proved to be carriers of the  CHEK2  c.1100del pathogenic variant. Regardless of the outcome of the genetic test, women were generally satisfied with our approach and reported that the written information was sufficient to make an informed decision about the additional  CHEK2  testing.    Conclusions  The uptake (70%) of our approach was considered satisfactory. Patients considered the benefits more important than the psychosocial burden. Given the rapid developments in DNA-diagnostics, our findings may support future initiatives to recontact patients about additional genetic testing when they previously tested negative for a pathogenic variant in a breast cancer gene.

Recontacting non-BRCA1/2 breast cancer patients for germline CHEK2 c.1100del pathogenic variant testing: uptake and patient experiences