CDKN1B mutation and copy number variation are associated with tumor aggressiveness in luminal breast cancer.

ABSTRACT: The CDKN1B gene, encoding for the CDK inhibitor p27^kip1 , is mutated in defined human cancer subtypes, including breast, prostate carcinomas and small intestine neuroendocrine tumors. Lessons learned from small intestine neuroendocrine tumors suggest that CDKN1B mutations could be subclonal, raising the question of whether a deeper sequencing approach could lead to the identification of higher numbers of patients with mutations. Here, we addressed this question and analyzed human cancer biopsies from breast (n = 396), ovarian (n = 110) and head and neck squamous carcinoma (n = 202) patients, using an ultra-deep sequencing approach. Notwithstanding this effort, the mutation rate of CDKN1B remained substantially aligned with values from the literature, showing that essentially onl

SUBMITTER: Viotto D 

PROVIDER: S-EPMC7839435 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature