Homozygosity for CHEK2 p.Gly167Arg leads to a unique cancer syndrome with multiple complex chromosomal translocations in peripheral blood karyotype.
Tamar PapernaNitzan Sharon-ShwartzmanAlina KurolapYael GoldbergNivin MoustafaYariv CarassoMiora FeinstienAdi MoryGili Reznick-LeviClaudia Gonzaga-JaureguiAlan R ShuldinerLina Basel-SalmonYishai OfranElizabeth E HalfHagit Baris FeldmanPublished in: Journal of medical genetics (2019)
The multiple chromosomal translocations in patient lymphocytes highlight the role of CHK2 in DNA repair. We suggest that homozygosity for p.Gly167Arg increases patients' susceptibility to non-accurate correction of DNA breaks and possibly explains their increased susceptibility to either multiple primary tumours during their lifetime or early-onset tumourigenesis.
Keyphrases
- early onset
- dna repair
- peripheral blood
- end stage renal disease
- late onset
- dna damage
- dna damage response
- ejection fraction
- newly diagnosed
- case report
- chronic kidney disease
- copy number
- papillary thyroid
- prognostic factors
- high resolution
- single molecule
- dna methylation
- squamous cell carcinoma
- gene expression
- squamous cell
- mass spectrometry
- genome wide
- circulating tumor cells