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Genome-Wide Sex and Gender Differences in Cancer
Camila M Lopes-Ramos1, John Quackenbush1,2,3, Dawn L DeMeo3,4
1Department of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA, United States.
Abstract:
Despite their known importance in clinical medicine, differences based on sex and gender are among the least studied factors affecting cancer susceptibility, progression, survival, and therapeutic response. In particular, the molecular mechanisms driving sex differences are poorly understood and so most approaches to precision medicine use mutational or other genomic data to assign therapy without considering how the sex of the individual might influence therapeutic efficacy. The mandate by the National Institutes of Health that research studies include sex as a biological variable has begun to expand our understanding on its importance. Sex differences in cancer may arise due to a combination of environmental, genetic, and epigenetic factors, as well as differences in gene regulation, and expression. Extensive sex differences occur genome-wide, and ultimately influence cancer biology and outcomes. In this review, we summarize the current state of knowledge about sex-specific genetic and genome-wide influences in cancer, describe how differences in response to environmental exposures and genetic and epigenetic alterations alter the trajectory of the disease, and provide insights into the importance of integrative analyses in understanding the interplay of sex and genomics in cancer. In particular, we will explore some of the emerging analytical approaches, such as the use of network methods, that are providing a deeper understanding of the drivers of differences based on sex and gender. Better understanding these complex factors and their interactions will improve cancer prevention, treatment, and outcomes for all individuals.
Insights
Sex and gender significantly impact cancer, influencing susceptibility, progression, and treatment response. Understanding these biological differences is crucial for advancing precision medicine and improving patient outcomes.
Area of Science:
- Oncology
- Genomics
- Sex and Gender Studies
Background:
- Sex and gender differences are understudied in cancer, impacting susceptibility, progression, survival, and treatment.
- Current precision medicine often overlooks sex as a biological variable, focusing primarily on genomic data.
- National Institutes of Health mandates are increasing the study of sex as a biological variable in research.
Purpose of the Study:
- To review current knowledge on sex-specific genetic and genome-wide influences in cancer.
- To explore how environmental exposures, genetic, and epigenetic factors contribute to sex differences in cancer.
- To highlight the importance of integrative analyses and network methods for understanding sex and genomics in cancer.
Main Methods:
- Review of existing literature on sex differences in cancer.
- Analysis of genetic, epigenetic, and environmental factors influencing cancer.
- Exploration of network methods and integrative approaches for analyzing sex-specific data.
Main Results:
- Sex differences in cancer are extensive, occurring genome-wide and affecting cancer biology and outcomes.
- Environmental exposures, genetic alterations, and epigenetic changes interact to influence cancer trajectories differently between sexes.
- Emerging analytical approaches are beginning to elucidate the drivers of sex and gender differences in cancer.
Conclusions:
- Understanding the complex interplay of sex, gender, and genomics is vital for improving cancer prevention and treatment.
- Integrating sex as a biological variable in research and precision medicine is essential for equitable patient care.
- Further research into sex-specific mechanisms will lead to more effective, personalized cancer therapies for all individuals.
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