Assessing biases of information contained in pedigrees for the classification of BRCA-genetic variants (ENIGMA)

Assessing biases of information contained in pedigrees for the classification of BRCA-genetic variants: a study arising from the ENIGMA analytical working group | Hereditary Cancer in Clinical Practice | Full Text 
 

Conclusion

Clinical scores change significantly over time for BRCAm families. This may be due to differences in follow-up, but also to differences in cancer risks from carrying a pathogenic variant in a highly penetrant gene. To reduce bias, models for VUS classification should incorporate FH collected at intake.