Increased prevalence of germline pathogenic CHEK2 variants in individuals with pituitary adenomas

CONCLUSIONS: This is the first study to suggest a role for the breast cancer predisposition gene, CHEK2, in pituitary tumorigenesis, with pathogenic/likely pathogenic variants found in 3% of patients with pituitary adenomas. As pituitary adenomas are relatively common and typically lack classical autosomal dominant family histories, risk alleles - such as these variants found in CHEK2 - might be a significant contributor to pituitary adenoma risk in the general population.PMID:38651569 | DOI:10.1210/clinem/dgae268

Source: Cancer Control - April 23, 2024 Category: Cancer & Oncology Authors: 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 Source Type: research