Characterization of frequently mutated cancer genes in Chinese breast tumors: a comparison of Chinese and TCGA cohorts

Zhang, Guochun; Wang, Yulei; Chen, Bin; Guo, Liping; Cao, Li; Ren, Chen; Li, Wen; Li, Kai; Jia, Minghan; Li, Cheukfai; Mok, Hsiaopei; Chen, Xiaoqing; Wei, Guodong; Lin, Jiali; Zhang, Zhou; Hou, Ting; Han‐Zhang, Han; Liu, Cheng‐Lin; Líu, Hao; Liu, Jing; Balch, Charles M.; Meric‐Bernstam, Funda; Liao, Ning

doi:10.21037/atm.2019.04.23

Cited by 55 publications

(71 citation statements)

References 47 publications

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“…Although several consortia have published on genetic variation that predicts survival in patients with breast cancer, no specific genetic markers have been identified that predict differences in survival metrics according to race. 13 - 16 There is limited evidence that genomic mutations in Chinese women with breast cancer differ significantly from those in White women, such as an increased prevalence of TP53 and AKT1 mutations, 4 which may translate into differences in oncologic outcomes.…”

Section: Discussionmentioning

confidence: 99%

“…Our study avoids the limitations of comparing Chinese women in China with Western women, where study differences may be accounted for by different health care systems and cultural barriers facing women in China, such as access to care, fatalism of cancer, and reliance on traditional medicine. 4 …”

Section: Discussionmentioning

confidence: 99%

“…In the National Central Cancer Registry of China, between 2003 and 2005, the 5-year survival for all women with breast cancer was 73.0%—much lower than the crude survival of women with breast cancer in Australia (89%), Europe (82%), Hong Kong (85.2%), and the United States (90%). 4 , 5 …”

Section: Introductionmentioning

confidence: 99%

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Survival Differences in Chinese Versus White Women With Breast Cancer in the United States: A SEER-Based Analysis

Lim

Giannakeas

Narod

2020

JCO Global Oncology

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PURPOSE The affect of race on breast cancer prognosis is not well understood. We compared crude and adjusted breast cancer survival rates of Chinese women versus White women in the United States. METHODS We conducted a cohort study of Chinese and White women with breast cancer diagnosed between 2004 to 2015 in the SEER 18 registries database. We abstracted information on age at diagnosis, tumor size, grade, lymph node status, receptor status, surgical treatment, receipt of radiotherapy and chemotherapy, and death. We compared crude breast cancer–specific mortality between the two ethnic groups. We calculated adjusted hazard ratios (HRs) in a propensity-matched design using the Cox proportional hazards model. P < .05 was considered statistically significant. RESULTS There were 7,553 Chinese women (1.8%) and 414,618 White women (98.2%) with stage I-IV breast cancer in the SEER database. There were small differences in demographics, nodal burden, and clinical stage between Chinese and White women. Ten-year breast cancer–specific survival was 88.8% for Chinese women and 85.6% for White women (HR, 0.73; 95% CI, 0.67 to 0.80; P < .0001). In a propensity-matched analysis among women with stage I–IIIC breast cancer, the HR was 0.71 (95% CI, 0.62 to 0.81; P < .0001). Annual mortality rates in White women exceeded those in Chinese women for the first 9 years after diagnosis. CONCLUSION Chinese women in the United States have superior breast cancer–specific survival compared with White women. The reason for the observed difference is not clear. Differences in demographic and tumor features between Chinese and White women with breast cancer may contribute to the disparity, as may the possibility of intrinsic biologic differences.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Survival Differences in Chinese Versus White Women With Breast Cancer in the United States: A SEER-Based Analysis

Lim

Giannakeas

Narod

2020

JCO Global Oncology

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“…HER2-positive breast cancer has a high frequency of TP53 mutations (up to 72%) [8], and in our previous study, the mutation frequency of TP53 in the triple-positive HR + /HER2 + group is 66.1% and up to 89.3% in the HR-/HER2 + group in Chinese breast cancer patients [19].…”

Section: Discussionmentioning

confidence: 88%

Genetic mutation profile of Chinese HER2-positive breast cancers and genetic predictors of responses to Neoadjuvant anti-HER2 therapy

Chen

et al. 2020

Breast Cancer Res Treat

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Purpose Despite the therapeutic success of existing HER2-targeted therapies, tumors respond quite differently to them. This study aimed at figuring out genetic mutation profile of Chinese HER2-positive patients and investigating predictive factors of neoadjuvant anti-HER2 responses. Methods We employed two cohorts. The first cohort was comprised of 181 HER2-positive patients treated at Guangdong Provincial People's Hospital from 2012 to 2018. The second cohort included 40 patients from the first cohort who underwent HER2-targeted neoadjuvant chemotherapy. Genetic mutations were characterized using next-generation sequencing. We employed the most commonly used definition of pathological complete response (pCR)-eradication of tumor from both breast and lymph nodes (ypT0/is ypN0). Results In Chinese HER2-positive breast cancer patients, TP53 (74.6%), CDK12 (64.6%) and PIK3CA (46.4%) have the highest mutation frequencies. In cohort 2, significant differences were found between pCR and non-pCR groups in terms of the initial Ki67 status, TP53 missense mutations, TP53 LOF mutations, PIK3CA mutations and ROS1 mutations (p = 0.028, 0.019, 0.005, 0.013, 0.049, respectively). Furthermore, TP53 LOF mutations and initial Ki67 status (OR 7.086, 95% CI 1.366-36.749, p = 0.020 and OR 6.007, 95% CI 1.120-32.210, p = 0.036, respectively) were found to be predictive of pCR status. Conclusion TP53 LOF mutations and initial Ki67 status in HER2-positive breast cancer are predictive of pCR status after HER2-targeted NACT.

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“…Wu AH et al reported that the incidence of BC in Filipino people is signi cantly higher than that in Japan and China [21]. Zhang G et al found that compared with the white, the expression of TP53 and AKT1 is higher in Chinese, which may be a potential factor affecting the incidence of BC [22]. Yang SY et al found that the morbidity of BC is different between China and other Asian populations, and the mutation frequency of BRCA2 was much higher than that of BRCA1, by comparison, BRCA1 mutations are more common than BRCA2 mutations in Caucasian populations [23].…”

Section: Introductionmentioning

confidence: 99%

The Characteristics Comparison of Breast Cancer Patients in Southern China and America: A Multicentre Study in China Versus SEER Database

Niu¹,

Zhang²,

Chen³

et al. 2020

Preprint

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Background and Objective: The morbidity and mortality of breast cancer are increasing in recent years, which had become the second main cause of cancer death in women. However, there are different characteristics of breast cancer in developing countries and developed countries. What’s more, it has not reported the comparison of breast cancer between southern China and the United States. We intend to compare the age, different stages and grades of tumor and treatment methods, in order to study the factors which influence the survival and prognosis of breast cancer patients. Methods: To study the two groups which have been diagnosed with breast cancer in southern China from 2001 to 2016 and SEER database from 1975 to 2016. To register, collect and analyze the clinicopathological features and treatment information. To follow up the patients who have been diagnosed before 2016. Kaplan-Meier method was used to evaluate disease-free survival (DFS) and overall survival (OS). Results: Young breast cancer patients accounted for 19.8% and 6.14% respectively in southern China and SEER cohort. The early diagnostic rate of breast cancer is high in southern China, but still lower than SEER cohort. Our study found that there are significant differences in tumor size and positive lymph node status between southern China and SEER cohort (P=0.000), which notably affect the OS of breast cancer patients (P=0.018 and P=0.000). Furthermore, KI-67 is also an important prognostic factor of breast cancer patients in southern China, which also affect the OS of patients (P=0.034). In treatment, there are also significant differences between the two regions. In southern China, there are 4.91% of breast cancer patients performed breast conserving surgery and 95.09% patients performed mastectomy. But in SEER cohort, there are only 4.91% patients preformed breast surgery. Conclusions: The age, tumor size, positive-node and KI-67 may cause the difference of morbidity and mortality of breast cancer patients in southern China and SEER cohort. Overall, the prognosis of breast cancer patients in SEER cohort is better than southern China.

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Characterization of frequently mutated cancer genes in Chinese breast tumors: a comparison of Chinese and TCGA cohorts

Cited by 55 publications

References 47 publications

Survival Differences in Chinese Versus White Women With Breast Cancer in the United States: A SEER-Based Analysis

Survival Differences in Chinese Versus White Women With Breast Cancer in the United States: A SEER-Based Analysis

Genetic mutation profile of Chinese HER2-positive breast cancers and genetic predictors of responses to Neoadjuvant anti-HER2 therapy

The Characteristics Comparison of Breast Cancer Patients in Southern China and America: A Multicentre Study in China Versus SEER Database

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