Pan-cancer genomic variation characteristics of CDKN2A/CDKN2B/CCND1 in Chinese patients.

e13519Background: Cell cycle regulation plays a vital role in cancer development, and targeting the aberrant pathway using CDK4/6 inhibitors shows reliable efficacy in tumor suppression. Characteristics of these genes and the co-existing genomic variations in pan-cancer study had not been fully evaluated. Methods: FFPE samples of 515 Chinese patients (pts) including 317 males and 198 females with a mean age of 58 years were collected for next generation sequencing based panel of 450 cancer genes. The cohort included 314 lung adenocarcinomas (ADC), 128 colorectal carcinomas (CRC) and 73 hepatocellular carcinomas (HCC). All classes of genomic alterations were assessed. Results: Genomic alterations of CDKN2A/CDKN2B/CCND1 were detected in 9.1% (47/515) of Chinese pts (with mutations in at least one gene). Variation frequencies of each gene in the whole cohort were 5.6%, 1.9% and 3.5%, respectively, more common in HCC (16.0%) and ADC (10.5%) than CRC (1.6%). Frequently co-occurring mutated genes of CDKN2A/CDKN...