Advances in mutant gene sequences of hereditary colorectal cancer_CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY

Authors：

ZHANG Yunlu , JING Pengfei , NIE Pan ,  WANG Cun

Department of Gastrointestinal Surgery, West China Hospital, Sichuan University, Chengdu 610041, P. R. China;

Corresponding author：

WANG Cun, Email: ffz6927@163.com

Keywords：

hereditary colorectal cancer; gene mutation; review

DOI：

10.7507/1007-9424.201907119

Video：

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Abstract Full text Figures/Tables Video References Cited by

Objective To summarize the progress in mutant gene sequences of different types of hereditary colorectal cancer.Method The relevant literatures about genetic mutations in hereditary colorectal cancer at home and abroad were reviewed.Results Hereditary colorectal cancer coule be divided into two categories according to whether it was related to the germline mutations of known oncogenes. Among the known germline mutant genes, the gene of adenomatous polyposis coli (APC), MUTYH, thymidine glycol DNA glycosylase 1 (NTHL1), polymerase (DNA) epsilon, catalytic subunit (POLE), and polymerase (DNA) delta 1, catalytic subunit (POLD1) were closely related to adenomatous polyposis syndromes, mismatch repair (MMR)-related genes were related to Lynch syndrome, serine/threonine kinase 11 (STK-11) gene was related to Peutz-Jeghers syndrome, mutant genes of SMAD4 and bone morphogenetic protein receptor type 1A (BMPR1A) were found in JPS individuals, and Cowden syndrome was caused by phosphatase and tensin homology deleted on chromosome ten (PTEN) gene mutation. For colorectal cancer patients with unknown germline mutations but significant genetic characteristics (such as hyperplastic polyposis), relevant genes had also been gradually searched out, which needed further evidence.Conclusions Colorectal cancer is a malignant tumor with genetic characteristics. Compared with sporadic colorectal cancer, the time of hereditary colorectal cancer from adenoma to cancer is shorter, and the occurrence of heterogeneous tumor is also increased, but the survival rate after active intervention is higher than the sporadic one. To study the mutant gene sequences of hereditary colorectal cancer is the improvement and development of the diseases control in modern medicine.

Citation： ZHANG Yunlu, JING Pengfei, NIE Pan, WANG Cun. Advances in mutant gene sequences of hereditary colorectal cancer. CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY, 2020, 27(5): 634-640. doi: 10.7507/1007-9424.201907119 Copy

1.	Zhang Y, Chen Z, Li J. The current status of treatment for colorectal cancer in China: a systematic review. Medicine (Baltimore), 2017, 96(40): e8242.
2.	Chen E, Xu X, Liu T. Hereditary nonpolyposis colorectal cancer and cancer syndromes: recent basic and clinical discoveries. J Oncol, 2018, 2018: 3979135.
3.	Stoffel EM, Kastrinos F. Familial colorectal cancer, beyond Lynch syndrome. Clin Gastroenterol Hepatol, 2014, 12(7): 1059-1068.
4.	Talseth-Palmer BA. The genetic basis of colonic adenomatous polyposis syndromes. Hered Cancer Clin Pract, 2017, 15: 5.
5.	Grolleman JE, de Voer RM, Elsayed FA, et al. Mutational signature analysis reveals NTHL1 deficiency to cause a multi-tumor phenotype. Cancer Cell, 2019, 35(2): 256-266.
6.	Sarvepalli S, Burke CA, Monachese M, et al. Natural history of colonic polyposis in young patients with familial adenomatous polyposis. Gastrointest Endosc, 2018, 88(4): 726-733.
7.	Nusliha A, Dalpatadu U, Amarasinghe B, et al. Congenital hypertrophy of retinal pigment epithelium (CHRPE) in patients with familial adenomatous polyposis (FAP); a polyposis registry experience. BMC Res Notes, 2014, 7: 734.
8.	Nallamilli BR, Hegde M. Detecting APC gene mutations in familial adenomatous polyposis (FAP). Curr Protoc Hum Genet, 2017, 92: 10.
9.	Half E, Bercovich D, Rozen P. Familial adenomatous polyposis. Orphanet J Rare Dis, 2009, 4: 22.
10.	Tanaka N, Mashima T, Mizutani A, et al. APC mutations as a potential biomarker for sensitivity to tankyrase inhibitors in colorectal cancer. Mol Cancer Ther, 2017, 16(4): 752-762.
11.	Kim B, Won D, Jang M, et al. Next-generation sequencing with comprehensive bioinformatics analysis facilitates somatic mosaic APC gene mutation detection in patients with familial adenomatous polyposis. BMC Med Genomics, 2019, 12(1): 103.
12.	Fitzpatrick SG, Hirsch SA, Listinsky CM, et al. Ameloblastic carcinoma with features of ghost cell odontogenic carcinoma in a patient with suspected Gardner syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol, 2015, 119(4): e241-e245.
13.	Jasperson KW, Tuohy TM, Neklason DW, et al. Hereditary and familial colon cancer. Gastroenterology, 2010, 138(6): 2044-2058.
14.	Vasen HF, Möslein G, Alonso A, et al. Guidelines for the clinical management of familial adenomatous polyposis (FAP). Gut, 2008, 57(5): 704-713.
15.	Walton SJ, Kallenberg FG, Clark SK, et al. Frequency and features of duodenal adenomas in patients with MUTYH-associated polyposis. Clin Gastroenterol Hepatol, 2016, 14(7): 986-992.
16.	Grover S, Kastrinos F, Steyerberg EW, et al. Prevalence and phenotypes of APC and MUTYH mutations in patients with multiple colorectal adenomas. JAMA, 2012, 308(5): 485-492.
17.	Kantor M, Sobrado J, Patel S, et al. Hereditary colorectal tumors: a literature review on MUTYH-associated polyposis. Gastroenterol Res Pract, 2017, 2017: 8693182.
18.	Weren RD, Ligtenberg MJ, Kets CM, et al. A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer. Nat Genet, 2015, 47(6): 668-671.
19.	Kuiper RP, Hoogerbrugge N. NTHL1 defines novel cancer syndrome. Oncotarget, 2015, 6(33): 34069-34070.
20.	Wimmer K, Beilken A, Nustede R, et al. A novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency. Fam Cancer, 2017, 16(1): 67-71.
21.	Nicolas E, Golemis EA, Arora S. POLD1: central mediator of DNA replication and repair, and implication in cancer and other pathologies. Gene, 2016, 590(1): 128-141.
22.	Vasen HF, Watson P, Mecklin JP, et al. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology, 1999, 116(6): 1453-1456.
23.	李晓芬, 袁瑛, 张苏展. 中国人遗传性大肠癌综合征的特征及诊疗规范. 中国癌症杂志, 2015, 25(11): 841-848.
24.	Yurgelun MB, Kulke MH, Fuchs CS, et al. Cancer susceptibility gene mutations in individuals with colorectal cancer. J Clin Oncol, 2017, 35(10): 1086-1095.
25.	Ryan NAJ, Morris J, Green K, et al. Association of mismatch repair mutation with age at cancer onset in Lynch Syndrome: implications for stratified surveillance strategies. JAMA Oncol, 2017, 3(12): 1702-1706.
26.	Gatalica Z, Vranic S, Xiu J, et al. High microsatellite instability (MSI-H) colorectal carcinoma: a brief review of predictive biomarkers in the era of personalized medicine. Fam Cancer, 2016, 15(3): 405-412.
27.	Pearlman R, Frankel WL, Swanson B, et al. Prevalence and spectrum of germline cancer susceptibility gene mutations among patients with early-onset colorectal cancer. JAMA Oncol, 2017, 3(4): 464-471.
28.	Cini G, Quaia M, Canzonieri V, et al. Toward a better definition of EPCAM deletions in Lynch Syndrome: report of new variants in Italy and the associated molecular phenotype. Mol Genet Genomic Med, 2019, 7(5): e587.
29.	Ryan E, Sheahan K, Creavin B, et al. The current value of determining the mismatch repair status of colorectal cancer: a rationale for routine testing. Crit Rev Oncol Hematol, 2017, 116: 38-57.
30.	Duraturo F, Liccardo R, De Rosa M, et al. Genetics, diagnosis and treatment of Lynch syndrome: old lessons and current challenges. Oncol Lett, 2019, 17(3): 3048-3054.
31.	Benson AB, Venook AP, Al-Hawary MM, et al. Rectal Cancer, Version 2.2018, NCCN Clinical Practice Guidelines in Oncology. J Natl Compr Canc Netw, 2018, 16(7): 874-901.
32.	Shaco-Levy R, Jasperson KW, Martin K, et al. Morphologic characterization of hamartomatous gastrointestinal polyps in Cowden syndrome, Peutz-Jeghers syndrome, and juvenile polyposis syndrome. Hum Pathol, 2016, 49: 39-48.
33.	Gilad O, Rosner G, Fliss-Isakov N, et al. Clinical and histologic overlap and distinction among various hamartomatous polyposis syndromes. Clin Transl Gastroenterol, 2019, 10(5): 1-9.
34.	Syngal S, Brand RE, Church JM, et al. ACG clinical guideline: genetic testing and management of hereditary gastrointestinal cancer syndromes. Am J Gastroenterol, 2015, 110(2): 223-262.
35.	Jenne DE, Reimann H, Nezu J, et al. Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase. Nat Genet, 1998, 18(1): 38-43.
36.	Hemminki A, Markie D, Tomlinson I, et al. A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. Nature, 1998, 391(6663): 184-187.
37.	Achatz MI, Porter CC, Brugières L, et al. Cancer screening recommendations and clinical management of inherited gastrointestinal cancer syndromes in childhood. Clin Cancer Res, 2017, 23(13): e107-e114.
38.	Sweet K, Willis J, Zhou XP, et al. Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis. JAMA, 2005, 294(19): 2465-2473.
39.	Gallione CJ, Repetto GM, Legius E, et al. A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). Lancet, 2004, 363(9412): 852-859.
40.	Starink TM, van der Veen JP, Arwert F, et al. The Cowden syndrome: a clinical and genetic study in 21 patients. Clin Genet, 1986, 29(3): 222-233.
41.	Heald B, Mester J, Rybicki L, et al. Frequent gastrointestinal polyps and colorectal adenocarcinomas in a prospective series of PTEN mutation carriers. Gastroenterology, 2010, 139(6): 1927-1933.
42.	Valle L. Genetic predisposition to colorectal cancer: where we stand and future perspectives. World J Gastroenterol, 2014, 20(29): 9828-9849.
43.	Garre P, Martín L, Bando I, et al. Cancer risk and overall survival in mismatch repair proficient hereditary non-polyposis colorectal cancer, Lynch syndrome and sporadic colorectal cancer. Fam Cancer, 2014, 13(1): 109-119.
44.	Nejadtaghi M, Jafari H, Farrokhi E, et al. Familial colorectal cancer type X (FCCTX) and the correlation with various genes-a systematic review. Curr Probl Cancer, 2017, 41(6): 388-397.
45.	Francisco I, Albuquerque C, Lage P, et al. Familial colorectal cancer type X syndrome: two distinct molecular entities? Fam Cancer, 2011, 10(4): 623-631.
46.	Herreros de Tejada A, González-Lois C, Santiago J. Serrated lesions and serrated polyposis syndrome. Rev Esp Enferm Dig, 2017, 109(7): 516-526.
47.	Carballal S, Rodríguez-Alcalde D, Moreira L, et al. Colorectal cancer risk factors in patients with serrated polyposis syndrome: a large multicentre study. Gut, 2016, 65(11): 1829-1837.
48.	Rex DK, Ahnen DJ, Baron JA, et al. Serrated lesions of the colorectum: review and recommendations from an expert panel. Am J Gastroenterol, 2012, 107(9): 1315-1329.
49.	Guarinos C, Sánchez-Fortún C, Rodríguez-Soler M, et al. Serrated polyposis syndrome: molecular, pathological and clinical aspects. World J Gastroenterol, 2012, 18(20): 2452-2461.
50.	Horpaopan S, Kirfel J, Peters S, et al. Exome sequencing characterizes the somatic mutation spectrum of early serrated lesions in a patient with serrated polyposis syndrome (SPS). Hered Cancer Clin Pract, 2017, 15: 22.
51.	中国抗癌协会大肠癌专业委员会遗传学组. 遗传性结直肠癌临床诊治和家系管理中国专家共识. 实用肿瘤杂志, 2018, 33(1): 3-16.
52.	Durno C, Boland CR, Cohen S, et al. Recommendations on surveillance and management of biallelic mismatch repair deficiency (BMMRD) syndrome: a consensus statement by the US multi-society task force on colorectal cancer. Gastroenterology, 2017, 152(6): 1605-1614.
53.	Kastrinos F, Allen JI, Stockwell DH, et al. Development and validation of a colon cancer risk assessment tool for patients undergoing colonoscopy. Am J Gastroenterol, 2009, 104(6): 1508-1518.

1. Zhang Y, Chen Z, Li J. The current status of treatment for colorectal cancer in China: a systematic review. Medicine (Baltimore), 2017, 96(40): e8242.
2. Chen E, Xu X, Liu T. Hereditary nonpolyposis colorectal cancer and cancer syndromes: recent basic and clinical discoveries. J Oncol, 2018, 2018: 3979135.
3. Stoffel EM, Kastrinos F. Familial colorectal cancer, beyond Lynch syndrome. Clin Gastroenterol Hepatol, 2014, 12(7): 1059-1068.
4. Talseth-Palmer BA. The genetic basis of colonic adenomatous polyposis syndromes. Hered Cancer Clin Pract, 2017, 15: 5.
5. Grolleman JE, de Voer RM, Elsayed FA, et al. Mutational signature analysis reveals NTHL1 deficiency to cause a multi-tumor phenotype. Cancer Cell, 2019, 35(2): 256-266.
6. Sarvepalli S, Burke CA, Monachese M, et al. Natural history of colonic polyposis in young patients with familial adenomatous polyposis. Gastrointest Endosc, 2018, 88(4): 726-733.
7. Nusliha A, Dalpatadu U, Amarasinghe B, et al. Congenital hypertrophy of retinal pigment epithelium (CHRPE) in patients with familial adenomatous polyposis (FAP); a polyposis registry experience. BMC Res Notes, 2014, 7: 734.
8. Nallamilli BR, Hegde M. Detecting APC gene mutations in familial adenomatous polyposis (FAP). Curr Protoc Hum Genet, 2017, 92: 10.
9. Half E, Bercovich D, Rozen P. Familial adenomatous polyposis. Orphanet J Rare Dis, 2009, 4: 22.
10. Tanaka N, Mashima T, Mizutani A, et al. APC mutations as a potential biomarker for sensitivity to tankyrase inhibitors in colorectal cancer. Mol Cancer Ther, 2017, 16(4): 752-762.
11. Kim B, Won D, Jang M, et al. Next-generation sequencing with comprehensive bioinformatics analysis facilitates somatic mosaic APC gene mutation detection in patients with familial adenomatous polyposis. BMC Med Genomics, 2019, 12(1): 103.
12. Fitzpatrick SG, Hirsch SA, Listinsky CM, et al. Ameloblastic carcinoma with features of ghost cell odontogenic carcinoma in a patient with suspected Gardner syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol, 2015, 119(4): e241-e245.
13. Jasperson KW, Tuohy TM, Neklason DW, et al. Hereditary and familial colon cancer. Gastroenterology, 2010, 138(6): 2044-2058.
14. Vasen HF, Möslein G, Alonso A, et al. Guidelines for the clinical management of familial adenomatous polyposis (FAP). Gut, 2008, 57(5): 704-713.
15. Walton SJ, Kallenberg FG, Clark SK, et al. Frequency and features of duodenal adenomas in patients with MUTYH-associated polyposis. Clin Gastroenterol Hepatol, 2016, 14(7): 986-992.
16. Grover S, Kastrinos F, Steyerberg EW, et al. Prevalence and phenotypes of APC and MUTYH mutations in patients with multiple colorectal adenomas. JAMA, 2012, 308(5): 485-492.
17. Kantor M, Sobrado J, Patel S, et al. Hereditary colorectal tumors: a literature review on MUTYH-associated polyposis. Gastroenterol Res Pract, 2017, 2017: 8693182.
18. Weren RD, Ligtenberg MJ, Kets CM, et al. A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer. Nat Genet, 2015, 47(6): 668-671.
19. Kuiper RP, Hoogerbrugge N. NTHL1 defines novel cancer syndrome. Oncotarget, 2015, 6(33): 34069-34070.
20. Wimmer K, Beilken A, Nustede R, et al. A novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency. Fam Cancer, 2017, 16(1): 67-71.
21. Nicolas E, Golemis EA, Arora S. POLD1: central mediator of DNA replication and repair, and implication in cancer and other pathologies. Gene, 2016, 590(1): 128-141.
22. Vasen HF, Watson P, Mecklin JP, et al. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology, 1999, 116(6): 1453-1456.
23. 李晓芬, 袁瑛, 张苏展. 中国人遗传性大肠癌综合征的特征及诊疗规范. 中国癌症杂志, 2015, 25(11): 841-848.
24. Yurgelun MB, Kulke MH, Fuchs CS, et al. Cancer susceptibility gene mutations in individuals with colorectal cancer. J Clin Oncol, 2017, 35(10): 1086-1095.
25. Ryan NAJ, Morris J, Green K, et al. Association of mismatch repair mutation with age at cancer onset in Lynch Syndrome: implications for stratified surveillance strategies. JAMA Oncol, 2017, 3(12): 1702-1706.
26. Gatalica Z, Vranic S, Xiu J, et al. High microsatellite instability (MSI-H) colorectal carcinoma: a brief review of predictive biomarkers in the era of personalized medicine. Fam Cancer, 2016, 15(3): 405-412.
27. Pearlman R, Frankel WL, Swanson B, et al. Prevalence and spectrum of germline cancer susceptibility gene mutations among patients with early-onset colorectal cancer. JAMA Oncol, 2017, 3(4): 464-471.
28. Cini G, Quaia M, Canzonieri V, et al. Toward a better definition of EPCAM deletions in Lynch Syndrome: report of new variants in Italy and the associated molecular phenotype. Mol Genet Genomic Med, 2019, 7(5): e587.
29. Ryan E, Sheahan K, Creavin B, et al. The current value of determining the mismatch repair status of colorectal cancer: a rationale for routine testing. Crit Rev Oncol Hematol, 2017, 116: 38-57.
30. Duraturo F, Liccardo R, De Rosa M, et al. Genetics, diagnosis and treatment of Lynch syndrome: old lessons and current challenges. Oncol Lett, 2019, 17(3): 3048-3054.
31. Benson AB, Venook AP, Al-Hawary MM, et al. Rectal Cancer, Version 2.2018, NCCN Clinical Practice Guidelines in Oncology. J Natl Compr Canc Netw, 2018, 16(7): 874-901.
32. Shaco-Levy R, Jasperson KW, Martin K, et al. Morphologic characterization of hamartomatous gastrointestinal polyps in Cowden syndrome, Peutz-Jeghers syndrome, and juvenile polyposis syndrome. Hum Pathol, 2016, 49: 39-48.
33. Gilad O, Rosner G, Fliss-Isakov N, et al. Clinical and histologic overlap and distinction among various hamartomatous polyposis syndromes. Clin Transl Gastroenterol, 2019, 10(5): 1-9.
34. Syngal S, Brand RE, Church JM, et al. ACG clinical guideline: genetic testing and management of hereditary gastrointestinal cancer syndromes. Am J Gastroenterol, 2015, 110(2): 223-262.
35. Jenne DE, Reimann H, Nezu J, et al. Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase. Nat Genet, 1998, 18(1): 38-43.
36. Hemminki A, Markie D, Tomlinson I, et al. A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. Nature, 1998, 391(6663): 184-187.
37. Achatz MI, Porter CC, Brugières L, et al. Cancer screening recommendations and clinical management of inherited gastrointestinal cancer syndromes in childhood. Clin Cancer Res, 2017, 23(13): e107-e114.
38. Sweet K, Willis J, Zhou XP, et al. Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis. JAMA, 2005, 294(19): 2465-2473.
39. Gallione CJ, Repetto GM, Legius E, et al. A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). Lancet, 2004, 363(9412): 852-859.
40. Starink TM, van der Veen JP, Arwert F, et al. The Cowden syndrome: a clinical and genetic study in 21 patients. Clin Genet, 1986, 29(3): 222-233.
41. Heald B, Mester J, Rybicki L, et al. Frequent gastrointestinal polyps and colorectal adenocarcinomas in a prospective series of PTEN mutation carriers. Gastroenterology, 2010, 139(6): 1927-1933.
42. Valle L. Genetic predisposition to colorectal cancer: where we stand and future perspectives. World J Gastroenterol, 2014, 20(29): 9828-9849.
43. Garre P, Martín L, Bando I, et al. Cancer risk and overall survival in mismatch repair proficient hereditary non-polyposis colorectal cancer, Lynch syndrome and sporadic colorectal cancer. Fam Cancer, 2014, 13(1): 109-119.
44. Nejadtaghi M, Jafari H, Farrokhi E, et al. Familial colorectal cancer type X (FCCTX) and the correlation with various genes-a systematic review. Curr Probl Cancer, 2017, 41(6): 388-397.
45. Francisco I, Albuquerque C, Lage P, et al. Familial colorectal cancer type X syndrome: two distinct molecular entities? Fam Cancer, 2011, 10(4): 623-631.
46. Herreros de Tejada A, González-Lois C, Santiago J. Serrated lesions and serrated polyposis syndrome. Rev Esp Enferm Dig, 2017, 109(7): 516-526.
47. Carballal S, Rodríguez-Alcalde D, Moreira L, et al. Colorectal cancer risk factors in patients with serrated polyposis syndrome: a large multicentre study. Gut, 2016, 65(11): 1829-1837.
48. Rex DK, Ahnen DJ, Baron JA, et al. Serrated lesions of the colorectum: review and recommendations from an expert panel. Am J Gastroenterol, 2012, 107(9): 1315-1329.
49. Guarinos C, Sánchez-Fortún C, Rodríguez-Soler M, et al. Serrated polyposis syndrome: molecular, pathological and clinical aspects. World J Gastroenterol, 2012, 18(20): 2452-2461.
50. Horpaopan S, Kirfel J, Peters S, et al. Exome sequencing characterizes the somatic mutation spectrum of early serrated lesions in a patient with serrated polyposis syndrome (SPS). Hered Cancer Clin Pract, 2017, 15: 22.
51. 中国抗癌协会大肠癌专业委员会遗传学组. 遗传性结直肠癌临床诊治和家系管理中国专家共识. 实用肿瘤杂志, 2018, 33(1): 3-16.
52. Durno C, Boland CR, Cohen S, et al. Recommendations on surveillance and management of biallelic mismatch repair deficiency (BMMRD) syndrome: a consensus statement by the US multi-society task force on colorectal cancer. Gastroenterology, 2017, 152(6): 1605-1614.
53. Kastrinos F, Allen JI, Stockwell DH, et al. Development and validation of a colon cancer risk assessment tool for patients undergoing colonoscopy. Am J Gastroenterol, 2009, 104(6): 1508-1518.

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CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY

Advances in mutant gene sequences of hereditary colorectal cancer

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