MEDICINE AND HEALTH

64% of Cancer Patients in China have potentially clinical genetic mutations that can be used


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Screenshot of the paper

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Researchers analyzing data (courtesy of respondents)

Recently, Nature Communications published a research result by the team of Professor Wang Minghui of Sun Yat-sen Memorial Hospital of Sun Yat-sen University, which jointly met a number of hospitals and Zhiben Medical for the genomic characteristics of cancer populations in Asia. This result systematically analyzes and comprehensively compares the similarities and differences between the mutation characteristics of Chinese population and Western populations from the genetic level, and comprehensively expounds the different clinical genomic characteristics of cancer patients in the East and the West, which is the largest comprehensive analysis of the genome of Asian cancer populations so far.

The study reported more than 10,000 cases of pan-solid tumor somatic mutations in Chinese patients, including more than 100 tumor subtypes of 25 cancer species, and found for the first time that 64% of Chinese cancer patients had potential genetic mutations that were clinically available for medication. This is of great significance for selecting patients for clinical trials of molecularly targeted therapy, and can also help pharmaceutical companies quickly screen drug targets, clarify clinical indications, formulate strategies for new drug research and development, and accelerate the listing of new drugs.

Fill in the clinical genomics data of large-scale pan-cancer species in Asian cancer populations

Cancer incidence and mortality remain major challenges to global public health. According to the National Cancer Center, more than 4 million people with new cancers occur in China every year, and more than 2 million people die from cancer every year. In recent years, with the development of precision medicine, cancer is developing rapidly in the direction of genomics, precision oncology, and personalized diagnosis and treatment.

The occurrence and development of cancer is affected by multiple factors such as genes, age, environment, habits, and geography. Western populations have made great strides in their research in this area, discovering a range of cancer-related genes that play a driving role in the development of cancer.

The Asian cancer population has its own “characteristics”, but unfortunately, there has been a lack of large-scale systematic clinical genomic data in China.

With this in mind, the research team collected more than 10,000 asian cancer patient samples covering more than 100 cancer subtypes, comprehensively sequenced and comparatively analyzed these tumor samples through second-generation sequencing (NGS) technology, and compared them with the cohort of Memorial Sloan Kettering Cancer Center (MSK), the largest published cancer genome study.

“We systematically analyzed and comprehensively compared the similarities and differences between the mutant characteristics of Chinese populations and Western populations from the genetic level, comprehensively elaborated the different genomic characteristics of cancer patients in the East and the West, and filled the gap in the large-scale cancer genomics comparison study of cancer populations in Asia.” Wang Minghui said that the study provides important basic evidence for the international real-time integration of Precision Medicine in China.

In order to ensure the consistency of the sequencing results, according to Chen Hui, one of the authors of the research paper and the person in charge of bioinformatics of Zhiben Medical, all second-generation sequencing passes are responsible for Zhiben Medical, and the analysis bias caused by inconsistent processes is excluded as much as possible, thus providing a high-quality data analysis foundation.

Provide important basic evidence for the integration of international precision treatment

It is understood that the study contained a total of 31 ethnic cancer patient samples, including 25 cancer species and more than 100 tumor subtypes. The main types of tumors are non-small cell lung cancer, colorectal cancer, hepatocellular carcinoma, gastric cancer, esophageal cancer, soft tissue sarcoma, intrahepatic bile duct carcinoma, pancreatic cancer, extrahepatic bile duct carcinoma, and breast cancer.

“Our study systematically integrated and large-scale studies of the cancer genome and the clinical characteristics of cancer patients in China, mainly focusing on the correlation between multiple clinical features (age, sex, tumor stage, smoking history, treatment and sample type).” Wang Minghui said that in general, genomic differences related to clinical features are distributed in colorectal cancer and lung cancer.

For example, female non-smokers with early-stage non-small cell lung cancer have more EGFR mutations, while men with advanced non-small cell lung cancer have more mutations in TP53, CDKN2A, PIK3CA, and KRAS.

For the incidence of tumor tissue somatic cell genomes in various cancer species in eastern and western populations, the results of the study showed that there were great similarities, and only a few had significant differences. For example, in the lung adenocarcinoma population, the frequency of EGFR mutations and TP53 mutations in Chinese lung adenocarcinoma patients is higher than in western populations, while KEAP1 mutations are lower than in Western patients.

“This result shows that cancer genome characteristics have no borders, and there are small differences between races, but there are still significant differences in genetic mutations in Chinese and Western cancer populations in individual cancer species.” This provides an important basis for the real-time integration of China’s cancer precision treatment with advanced international diagnosis and treatment technology. Chen Hui said.

It is expected that more patients will receive personalized and accurate diagnosis and treatment

It is worth mentioning that the study found for the first time that 64% of Chinese cancer patients have clinically available gene mutations. Based on the calculation of 4 million new cancer populations in China every year, this means that more than 2.5 million Chinese cancer patients can use genetic testing for symptomatic drugs every year, select suitable targeted/immune drugs, prolong survival and obtain a higher quality of life.

Moreover, the study is also the first large-scale analysis of the tumor mutation burden (TMB) of pan-cancer species, which analyzes the distribution of TMB in the pan-cancer population, indicating that a high proportion of lung cancer patients in China can benefit from immunotherapy.

In this regard, the researchers collected all the clinical factors available in the Eastern and Western datasets before the specific comparison, and then compared the statistically balanced data set.

“The study provides a highly reliable data set and resource for cancer medicine. Accurate data is the cornerstone of individualized diagnosis and treatment, such as different genders, age structure, living habits, onset site, and molecular structure. By stringing this information together, we can find the most suitable personalized and accurate diagnosis and treatment plan for serving Chinese patients, and improve the five-year survival rate of cancer patients. Wang Aodi, head of zhiben medical data center, said. (Source: China Science Daily, Zhang Siwei, Lv Jing)

Related paper information:https://doi.org/10.1038/s41467-022-31780-9



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