Rare germline variants in ATM are associated with chronic lymphocytic leukemia

• DOI: 10.1038/leu.2017.201
• Publication Date: 2017-06-27T06:41:06Z
• Authors: G Tiao; M R Improgo; S Kasar; W Poh; A Kamburov; D-A Landau; E Tausch; A Taylor-Weiner; C Cibulskis; S Bahl; S M Fernandes; K Hoang; E Rheinbay; H T Kim; J Bahlo; S Robrecht; K Fischer; M Hallek; S Gabriel; E S Lander; S Stilgenbauer; C J Wu; A Kiezun; G Getz; J R Brown
• Keywords: Genome-wide Association Study

Chronic lymphocytic leukemia (CLL) is a highly heritable cancer, with a 7.5-fold increased risk in first-degree relatives.1 However, inherited predisposition to CLL remains largely unexplained by traditional linkage or genome-wide association studies. Here, we hypothesized that CLL heritability might arise from rare coding variants not analyzed in previous studies.