Visual analysis of research on POLE/POLD1 mutation in colorectal cancer: based on bibliometrics_CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY

Authors：

ZHAO Long ¹ , YANG Kelu ² , YE Yingjiang ¹ ,  SHEN Zhanlong ¹

1. Department of Gastroenterological Surgery, Laboratory of Surgical Oncology, Beijing Key Laboratory of Colorectal Cancer Diagnosis and Treatment Research, Peking University People’s Hospital, Beijing 100044, P. R. China;
2. Evidence-Based Medicine Center of Lanzhou University, Key Laboratory of Evidence-Based Medicine and Knowledge Translation of Gansu Province, Lanzhou University, Lanzhou 735000, P. R. China;

Corresponding author：

SHEN Zhanlong, Email: shenzhanlong@pkuph.edu.cn

Keywords：

DNA polymerase epsilon catalytic mutation; DNA polymerase delta catalytic subunit mutation; colorectal cancer; knowledge visualization; advancement

DOI：

10.7507/1007-9424.202011097

Video：

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Objective Based on the method of bibliometrics, to visually analyze the current research status of DNA polymerase epsilon catalytic/DNA polymerase delta catalytic subunit (POLE/POLD1) mutations in colorectal cancer, and further to explore its current hot spots and to look forward to future development trends.Methods Used the Web of Science database as the data source to retrieve the published related literatures in the 30 years from the establishment of the database to September 2020, and used VOSviewer 1.6.11 and CiteSpace 5.7 software to analyze the the distribution of research countries/institutions, authors and keywords in the included published literatures. And to perform cluster analysis, time evolution analysis and Burst analysis on keywords, draw corresponding visual maps and analyzed them.Results A total of 299 published articles were included. Bibliometric analysis showed that the application of POLE/POLD1 mutations in colorectal cancer had developed steadily in recent years. After 2012, the number of published studies had increased significantly; the journals with the most articles were Familial Cancer and Proceedings of the National Academy of Sciences of the United States of America. The author with the highest number of articles was Tomlinson I. The analysis of countries and regions showed that the United States was the main country for research in this field and had contributed the most to the amount of publications. After analyzed the academic institutions/universities where the researchers were located, it could be seen that the University of Oxford was the research university/institution with the most publications. Keyword cluster analysis and time evolution analysis showed that the research hotspots in this field focus on the impact of this gene mutation on immunotherapy. Burst analysis showed that the current published research in this field started two years after publication and continues to be highly cited.Conclusions POLE/POLD1 mutation has undoubtedly become a hot area of current research in colorectal cancer research. Among them, tumor immunotherapy is the focus of research in this field.

Citation： ZHAO Long, YANG Kelu, YE Yingjiang, SHEN Zhanlong. Visual analysis of research on POLE/POLD1 mutation in colorectal cancer: based on bibliometrics. CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY, 2021, 28(8): 1009-1015. doi: 10.7507/1007-9424.202011097 Copy

1.	Bray F, Ferlay J, Soerjomataram I, et al. Global cancer statistics 2018: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA Cancer J Clin, 2018, 68(6): 394-424.
2.	Ahn SM, Ansari AA, Kim J, et al. The somatic POLE P286R mutation defines a unique subclass of colorectal cancer featuring hypermutation, representing a potential genomic biomarker for immunotherapy. Oncotarget, 2016, 7(42): 68638-68649.
3.	Palles C, Cazier JB, Howarth KM, et al. Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. Nat Genet, 2013, 45(2): 136-144.
4.	郑文晖. 文献计量法与内容分析法的比较研究. 情报杂志, 2006, 5: 31-33.
5.	黄子星, 李谋, 于浩鹏, 等. 基于 CiteSpace 的胰腺神经内分泌肿瘤影像研究的科学知识图谱分析. 中国普外基础与临床杂志, 2019, 26(1): 96-101.
6.	Fridman WH, Zitvogel L, Sautès-Fridman C, et al. The immune contexture in cancer prognosis and treatment. Nat Rev Clin Oncol, 2017, 14(12): 717-734.
7.	Cancer Genome Atlas Network. Comprehensive molecular characterization of human colon and rectal cancer. Nature, 2012, 487(7407): 330-337.
8.	Shinbrot E, Henninger EE, Weinhold N, et al. Exonuclease mutations in DNA polymerase epsilon reveal replication strand specific mutation patterns and human origins of replication. Genome Res, 2014, 24(11): 1740-1750.
9.	Rayner E, van Gool IC, Palles C, et al. A panoply of errors: polymerase proofreading domain mutations in cancer. Nat Rev Cancer, 2016, 16(2): 71-81.
10.	Domingo E, Freeman-Mills L, Rayner E, et al. Somatic POLE proofreading domain mutation, immune response, and prognosis in colorectal cancer: a retrospective, pooled biomarker study. Lancet Gastroenterol Hepatol, 2016, 1(3): 207-216.
11.	Liang YD, Li Y, Zhao J, et al. Study of acupuncture for low back pain in recent 20 years: a bibliometric analysis via CiteSpace. J Pain Res, 2017, 10: 951-964.
12.	Briggs S, Tomlinson I. Germline and somatic polymerase ε and δ mutations define a new class of hypermutated colorectal and endometrial cancers. J Pathol, 2013, 230(2): 148-153.
13.	Church DN, Briggs SE, Palles C, et al. DNA polymerase ε and δ exonuclease domain mutations in endometrial cancer. Hum Mol Genet, 2013, 22(14): 2820-2828.
14.	Liu D, Keijzers G, Rasmussen LJ. DNA mismatch repair and its many roles in eukaryotic cells. Mutat Res, 2017, 773: 174-187.
15.	Xing X, Kane DP, Bulock CR, et al. A recurrent cancer-associated substitution in DNA polymerase ε produces a hyperactive enzyme. Nat Commun, 2019, 10(1): 374.
16.	Parra-Herran C, Bassiouny D, Lerner-Ellis J, et al. p53, mismatch repair protein, and POLE abnormalities in ovarian clear cell carcinoma: an outcome-based clinicopathologic analysis. Am J Surg Pathol, 2019, 43(12): 1591-1599.
17.	Khan N, Lipsa A, Arunachal G, et al. Novel mutations and phenotypic associations identified through APC, MUTYH, NTHL1, POLD1, POLE gene analysis in Indian Familial Adenomatous Polyposis cohort. Sci Rep, 2017, 7(1): 2214.
18.	Valle L, Hernández-Illán E, Bellido F, et al. New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis. Hum Mol Genet, 2014, 23(13): 3506-3512.
19.	Bellido F, Pineda M, Aiza G, et al. POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance. Genet Med, 2016, 18(4): 325-332.
20.	Buchanan DD, Stewart JR, Clendenning M, et al. Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1. Genet Med, 2018, 20(8): 890-895.
21.	Wang F, Zhao Q, Wang YN, et al. Evaluation of POLE and POLD1 mutations as biomarkers for immunotherapy outcomes across multiple cancer types. JAMA Oncol, 2019, 5(10): 1504-1506.
22.	于永扬, 陈海宁, 周总光. 我国结直肠癌的现状、制约瓶颈与反思. 中国普外基础与临床杂志, 2019, 26(8): 897-902.
23.	王权, 杨珂璐, 王铸, 等. 单细胞测序技术的文献计量学研究及热点应用. 中国医药导刊, 2020, 22(9): 634-641.
24.	Daly CA, De Stavola B, Sendon JL, et al. Predicting prognosis in stable angina-results from the Euro heart survey of stable angina: prospective observational study. BMJ, 2006, 332(7536): 262-267.

1. Bray F, Ferlay J, Soerjomataram I, et al. Global cancer statistics 2018: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA Cancer J Clin, 2018, 68(6): 394-424.
2. Ahn SM, Ansari AA, Kim J, et al. The somatic POLE P286R mutation defines a unique subclass of colorectal cancer featuring hypermutation, representing a potential genomic biomarker for immunotherapy. Oncotarget, 2016, 7(42): 68638-68649.
3. Palles C, Cazier JB, Howarth KM, et al. Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. Nat Genet, 2013, 45(2): 136-144.
4. 郑文晖. 文献计量法与内容分析法的比较研究. 情报杂志, 2006, 5: 31-33.
5. 黄子星, 李谋, 于浩鹏, 等. 基于 CiteSpace 的胰腺神经内分泌肿瘤影像研究的科学知识图谱分析. 中国普外基础与临床杂志, 2019, 26(1): 96-101.
6. Fridman WH, Zitvogel L, Sautès-Fridman C, et al. The immune contexture in cancer prognosis and treatment. Nat Rev Clin Oncol, 2017, 14(12): 717-734.
7. Cancer Genome Atlas Network. Comprehensive molecular characterization of human colon and rectal cancer. Nature, 2012, 487(7407): 330-337.
8. Shinbrot E, Henninger EE, Weinhold N, et al. Exonuclease mutations in DNA polymerase epsilon reveal replication strand specific mutation patterns and human origins of replication. Genome Res, 2014, 24(11): 1740-1750.
9. Rayner E, van Gool IC, Palles C, et al. A panoply of errors: polymerase proofreading domain mutations in cancer. Nat Rev Cancer, 2016, 16(2): 71-81.
10. Domingo E, Freeman-Mills L, Rayner E, et al. Somatic POLE proofreading domain mutation, immune response, and prognosis in colorectal cancer: a retrospective, pooled biomarker study. Lancet Gastroenterol Hepatol, 2016, 1(3): 207-216.
11. Liang YD, Li Y, Zhao J, et al. Study of acupuncture for low back pain in recent 20 years: a bibliometric analysis via CiteSpace. J Pain Res, 2017, 10: 951-964.
12. Briggs S, Tomlinson I. Germline and somatic polymerase ε and δ mutations define a new class of hypermutated colorectal and endometrial cancers. J Pathol, 2013, 230(2): 148-153.
13. Church DN, Briggs SE, Palles C, et al. DNA polymerase ε and δ exonuclease domain mutations in endometrial cancer. Hum Mol Genet, 2013, 22(14): 2820-2828.
14. Liu D, Keijzers G, Rasmussen LJ. DNA mismatch repair and its many roles in eukaryotic cells. Mutat Res, 2017, 773: 174-187.
15. Xing X, Kane DP, Bulock CR, et al. A recurrent cancer-associated substitution in DNA polymerase ε produces a hyperactive enzyme. Nat Commun, 2019, 10(1): 374.
16. Parra-Herran C, Bassiouny D, Lerner-Ellis J, et al. p53, mismatch repair protein, and POLE abnormalities in ovarian clear cell carcinoma: an outcome-based clinicopathologic analysis. Am J Surg Pathol, 2019, 43(12): 1591-1599.
17. Khan N, Lipsa A, Arunachal G, et al. Novel mutations and phenotypic associations identified through APC, MUTYH, NTHL1, POLD1, POLE gene analysis in Indian Familial Adenomatous Polyposis cohort. Sci Rep, 2017, 7(1): 2214.
18. Valle L, Hernández-Illán E, Bellido F, et al. New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis. Hum Mol Genet, 2014, 23(13): 3506-3512.
19. Bellido F, Pineda M, Aiza G, et al. POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance. Genet Med, 2016, 18(4): 325-332.
20. Buchanan DD, Stewart JR, Clendenning M, et al. Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1. Genet Med, 2018, 20(8): 890-895.
21. Wang F, Zhao Q, Wang YN, et al. Evaluation of POLE and POLD1 mutations as biomarkers for immunotherapy outcomes across multiple cancer types. JAMA Oncol, 2019, 5(10): 1504-1506.
22. 于永扬, 陈海宁, 周总光. 我国结直肠癌的现状、制约瓶颈与反思. 中国普外基础与临床杂志, 2019, 26(8): 897-902.
23. 王权, 杨珂璐, 王铸, 等. 单细胞测序技术的文献计量学研究及热点应用. 中国医药导刊, 2020, 22(9): 634-641.
24. Daly CA, De Stavola B, Sendon JL, et al. Predicting prognosis in stable angina-results from the Euro heart survey of stable angina: prospective observational study. BMJ, 2006, 332(7536): 262-267.

CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY

Visual analysis of research on POLE/POLD1 mutation in colorectal cancer: based on bibliometrics

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