Report on the prevalence and clinical features of double heterozygous germline pathogenic variants found through multigene panels in a tertiary cancer genetics clinic.
Key Takeaways
- 21 of 2,802 tested individuals (0.75%) carried double heterozygous pathogenic variants
- Among pathogenic carriers, DH variants represented 3.5% and 0.36% met a stricter two dominant-gene definition
- DH carriers had a 26.3% rate of multiple primary cancers compared with 23.3% for single carriers