Identification of Mutational Signatures and Tumor Activity in Chinese Patients

Recent research conducted by scientists at Boston University School of Medicine has advanced our understanding of the genetic landscape of cancer in Chinese populations. Tumor mutational signatures are distinctive patterns of DNA damage that can shed light on the environmental factors and mechanisms driving carcinogenesis across different cancers. Historically, most of the characterization of these mutational signatures has been based on data from American and European populations, thanks to large-scale genomic databases like The Cancer Genome Atlas and the International Cancer Genome Consortium. However, due to limited data, the mutational profiles specific to Asian populations, including Chinese patients, remain poorly understood.

Through analyzing over 2,000 tumor samples spanning 25 cancer types, researchers employed their innovative software tool, "musicatk," to identify prevalent mutational signatures within the Chinese cohort. They found that, in general, the activity patterns of these signatures were similar to those observed in Western populations. Still, notable differences emerged, such as reduced UV-related mutational activity in cutaneous melanoma among Chinese patients compared to American patients. This aligns with epidemiological data showing a significantly lower incidence of melanoma in China, which is approximately 54 times less in men and 60 times less in women than in the United States.

Another significant finding was the detection of a mutational signature linked to aristolochic acid, a compound present in certain traditional Chinese herbal medicines. Aristolochic acid is known for its carcinogenic potential, particularly causing kidney failure and specific cancers. The study authors reported for the first time that aristolochic acid-related mutations are present in soft tissue sarcomas, indicating this carcinogen’s role in additional tumor types beyond previously known associations.

The research highlights both similarities and differences in mutational processes between Chinese and Western populations, offering insights that could impact diagnosis, prognosis, and tailored treatment strategies. It also emphasizes the importance of including diverse populations in genomic studies to accurately understand cancer etiology globally.

Overall, these findings fill a critical knowledge gap, revealing unique mutational processes in Chinese tumors and underscoring the need for further region-specific genomic research to improve cancer management worldwide. The full study is published in Cancer Research Communications, providing a deeper understanding of the mutational signatures that drive tumor development in Chinese patients.

Source: https://medicalxpress.com/news/2025-08-mutational-signatures-tumor-chinese-patients.html