Study: Sex-Specific Disparities Found Across Various Cancer Types


Investigators compared the copy number alterations of patients who were male and female using 16 cancer types in The Cancer Genome Atlas Program.

Investigators from the State Key Laboratory of Vascular Homeostasis and Remodeling at Peking University at China unveiled sex-specific disparities in copy number alterations in various cancer types, according to results published in Health Data Science.1,2

DNA strand and Cancer Cell Oncology Research Concept 3D rendering | Image Credit: catalin -

Image Credit: catalin -

"At the crux of cancer research, understanding the divergent paths this disease takes in men and women is paramount," Chunmei Cui from Peking University said in the press release. "Our latest findings delve into the heart of this divergence, revealing distinct genomic imbalances that underscore the importance of a gender-tailored approach in cancer prognosis and treatment."1

Investigators of the study aimed to compare the copy number alterations of patients who were male and female using 16 cancer types in The Cancer Genome Atlas Program (TCGA), according to the study authors. They included a sample size of 5947 tumors, with 3658 male and 2289 female.2

The study authors said the analysis focused on sex differences in the autosomal gene instability, and therefore sex chromosomes were excluded. They compared the DNA segments of the copy number aberration for sex and cancer type, with significant sex differences only observed in head and neck cancer, according to the study authors. The investigators identified 104 sex-biased copy number alteration regions within 16 cancer types, according to the results.2

The results of the study demonstrated differences in genomic instability, specifically among kidney, lung, liver, and head and neck cancers, due to the impact of sex-biased copy number alterations on gene expression and its potential as prognostic biomarkers, according to the press release.1 Investigators added that the results showed that there were limited cancer types that had sex disparities regarding copy number alterations, according to the study authors. Further, kidney renal cell carcinoma and lung squamous cell carcinoma had consistent tendencies with the copy number alterations in genomic instability indicators more prevalent in male patients, the results showed.2

Investigators found that over 60% of genes with the copy number alteration regions were influenced by the alterations, and approximately 14% of the mRNA abundance was affected by gender and copy number alterations, according to the results.1

Furthermore, investigators used a framework called CNGPLD, specifically designed for comparing copy number analysis, according to the study authors. According to the press release, the results expand on implications beyond the known sex disparities in lung and kidney cancer by emphasizing the role of sex in head and neck cancers as well as lower-grade glioma. The study authors said that the results of the study validates the CNGPLD method.1,2

Key Takeaways

  1. Significant sex-based differences in copy number alterations were only observed in a few cancers, including head and neck, kidney, lung, and liver cancers.
  2. The study identified genetic regions with sex-specific alterations that might serve as potential prognostic biomarkers.
  3. The findings suggest a need for a more nuanced understanding of sex differences in cancer development, with a focus on head and neck, kidney, lung, and lower-grade glioma cancers.

"Our insights into these gender-specific genetic alterations pave the way for more personalized cancer care, highlighting the necessity of integrating gender considerations into prognostic models and therapeutic interventions," Cui said in the press release. "The next phase of our research will focus on validating these [copy number alterations] in independent cohorts and elucidating their roles in cancer mechanisms, with the ultimate goal of translating these discoveries into clinical practice.”1

Cui hopes that the results of the study can help the development of gender-specific personalized medicines as well as gender-specific biomarkers, according to the press release.1

  1. Unveiling gender differences in cancer: new insight into genomic instability. News release. EurekAlert. March 29, 2024. Accessed April 2, 2024.
  2. Zhang C, Yang Y, Cui Q, Zhao D, Cui C. Identification and Analysis of Sex-Biased Copy Number Alterations. Health Data Sci. 2024;4:0121. doi:10.34133/hds.0121
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