Identiffcation and Analysis of Sex-Biased Copy Number Alterations  

作　　者：Chenhao Zhang Yang Yang Qinghua Cui Dongyu Zhao Chunmei Cui 

机构地区：[1]Department of Biomedical Informatics,Center for Noncoding RNA Medicine,State Key Laboratory of Vascular Homeostasis and Remodeling,School of Basic Medical Sciences,Peking University,38 Xueyuan Rd,Beijing 100191,China [2]Department of Biochemistry and Biophysics,School of Basic Medical Sciences,Peking University Health Science Center,Beijing 100191,China [3]School of Sports Medicine,Wuhan Institute of Physical Education,No.461 Luoyu Rd.Wuchang District,Wuhan 430079,Hubei Province,China

出　　处：《Health Data Science》2024年第1期355-363,共9页健康数据科学(英文)

基　　金：supported by the grants from the National Natural Science Foundation of China(32301239,62025102,and 81921001);Scientiffc and Technological Research Project of Xinjiang Production and Construction Corps(grant number 2023AB057);China Postdoctoral Science Foun dation(2023M740151).

摘　　要：Background:Sex difference has long been recognized at cancer incidence,outcomes,and responses to therapy.Analyzing the somatic mutation proffles of large-scale cancer samples between the sexes have revealed several potential drivers of cancer with sex difference.However,it is still a demand for indepth scrutinizing the sex-biased characteristics of genome instability to link the clinical differences for individual cancer type.Methods:Here,we utilized a published framework devised to speciffcally compare the copy number proffles between 2 groups to identify the sex-biased copy number alterations(CNAs)across 16 cancer types from the The Cancer Genome Atlas Program database,and dissected the impact of those CNAs.Results:Totally,81 male-biased CNA regions and 23 female-biased CNA regions in 16 cancer types were found.Functional annotation analysis showed that several critical biological functions associated with sex-biased CNAs are shared in multiple cancer types,including immune-related pathways and regulation of cellular signaling.Most sex-biased CNAs have a substantial effect on transcriptional consequence,where the average of over 68%of genes have a linear relationship with CNAs across cancer types,and 14%of those genes are affected by the combination of the sex and copy number.Furthermore,29 sex-biased CNA regions show latent capacity to be sex-speciffc prognostic biomarker such as CNA on 11q13.4 for head and neck cancer and lung cancer.Conclusions:This analysis offers new insights into the role of sex in cancer etiology and prognosis through a detailed characterization of sex differences in genome instability of diverse cancers.

关 键 词：alterations utilized LATENT 

分 类 号：R73[医药卫生—肿瘤]