Article
Subclinical Telomere Biology Disorder in Cancer Patients Heterozygous for the RTEL1 R1264H Founder Variant.
American journal of medical genetics. Part A - 1 May 2026
Banaszak Lauren G, Fiala Elise, Ceyhan-Birsoy Ozge, Khurram Aliya, Kemel Yelena M, Walsh Michael F, Liu Ying, Carlo Maria, Latham Alicia, Murciano-Goroff Yonina R, Abbass Mohammad Ali, Berger Micheal, Petrini John H J, Mandelker Diana, Offit Kenneth, Stadler Zsofia Kinga
Abstract excerpt
RTEL1 R1264H is a founder variant with a carrier frequency of 0.3%-1.0% in the Ashkenazi Jewish population. While biallelic RTEL1 R1264H causes a severe form of telomere biology disorder (TBD) presenting in childhood, the clinical significance of monoallelic carrier status has remained uncertain, limiting effective counseling and management. Here, we describe the clinical features, telomere lengths, and tumor...
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