Sunita M C De Sousa, Ann McCormack, Andreas Orsmond, Angeline Shen, Christopher J Yates, Roderick Clifton-Bligh, Stephen Santoreneos, James King, Jinghua Feng, John Toubia, David J Torpy, Hamish S Scott
CONTEXT: CHEK2 is a cell cycle checkpoint regulator gene with a long-established role as a clinically relevant, moderate risk breast cancer predisposition gene, with greater risk ascribed to truncating variants than missense variants. METHODS: We assessed 165 individuals with pituitary adenomas for CHEK2 variants. The study consisted of a primary cohort of 29 individuals who underwent germline and tumour whole exome sequencing, and a second, independent cohort of 136 individuals who had a targeted next-generation sequencing panel performed on both germline and tumour DNA (n=52) or germline DNA alone (n=84)...
April 23, 2024: Journal of Clinical Endocrinology and Metabolism