Recontacting non-BRCA1/2 breast cancer patients for germline CHEK2 c.1100del pathogenic variant testing: uptake and patient experiences.
Mary E VelthuizenRob B van der LuijtBeja J de VriesMarco J KoudijsEveline M A BleikerMargreet G E M AusemsPublished in: Hereditary cancer in clinical practice (2021)
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.