Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence.
Emadeldin HassaninIsabel SpierDheeraj R BobbiliRana AldisiHannah KlinkhammerFriederike DavidNuria DueñasRobert HüneburgClaudia PerneJoan BrunetGabriel CapellaMarkus M NöthenAndreas J ForstnerAndreas MayrPeter KrawitzPatrick MayStefan AretzCarlo MajPublished in: BMC medical genomics (2023)
The findings demonstrate that CRC risks are strongly influenced by the PRS for both a sporadic and monogenic background. FH, PV, and common variants complementary contribute to CRC risk. The implementation of PRS in routine care will likely improve personalized risk stratification, which will in turn guide tailored preventive surveillance strategies in high, intermediate, and low risk groups.
Keyphrases
- copy number
- healthcare
- quality improvement
- public health
- primary care
- palliative care
- risk factors
- late onset
- clinical practice
- human health
- dna repair
- fluorescent probe
- living cells
- smoking cessation
- gene expression
- amyotrophic lateral sclerosis
- risk assessment
- genome wide
- affordable care act
- climate change
- dna damage
- health insurance