Abstract CN10-02: Rare disorders informing cancer biology: Lessons learned from dyskeratosis congenita

This study includes comprehensive family history and individual history questionnaires, detailed medical record review, biospecimen collection, and evaluation at the NIH Clinical Center. In addition to the development of the diagnostic test, detailed clinical characterization of patients with DC and their families has led to improved understanding of the clinical consequences and management of DC and the spectrum of related telomere biology disorders. Through the use of genetic approaches ranging from linkage scans to whole exome sequencing, we have discovered three of the genetic causes of DC (TINF2, WRAP53, and RTEL1). Additional gene discovery efforts are underway. These clinical and molecular studies have led to improved understanding of key telomere proteins and formed the foundation for epidemiology studies of telomere biology and cancer in the general population.Citation Format: Sharon A. Savage. Rare disorders informing cancer biology: Lessons learned from dyskeratosis congenita. [abstract]. In: Proceedings of the Thirteenth Annual AACR International Conference on Frontiers in Cancer Prevention Research; 2014 Sep 27-Oct 1; New Orleans, LA. Philadelphia (PA): AACR; Can Prev Res 2015;8(10 Suppl): Abstract nr CN10-02.
Source: Cancer Prevention Research - Category: Cancer & Oncology Authors: Tags: Other Topics in Cell, Molecular, and Tumor Biology: Oral Presentations - Invited Abstracts Source Type: research