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中华结直肠疾病电子杂志 ›› 2024, Vol. 13 ›› Issue (01) : 1 -5. doi: 10.3877/cma.j.issn.2095-3224.2024.01.001

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遗传性结直肠癌的基因阻断
陈园园1, 颜宏利1,()   
  1. 1. 200433 上海,海军军医大学第一附属医院生殖医学中心
  • 收稿日期:2023-10-16 出版日期:2024-02-25
  • 通信作者: 颜宏利
  • 基金资助:
    国家自然科学基金面上项目(No.82273465)

Genetic blockade in hereditary colorectal cancer

Yuanyuan Chen1, Hongli Yan1,()   

  1. 1. Reproductive Medicine Center, the First Affiliated Hospital of Naval Medical University, Shanghai 200433, China
  • Received:2023-10-16 Published:2024-02-25
  • Corresponding author: Hongli Yan
引用本文:

陈园园, 颜宏利. 遗传性结直肠癌的基因阻断[J/OL]. 中华结直肠疾病电子杂志, 2024, 13(01): 1-5.

Yuanyuan Chen, Hongli Yan. Genetic blockade in hereditary colorectal cancer[J/OL]. Chinese Journal of Colorectal Diseases(Electronic Edition), 2024, 13(01): 1-5.

遗传性结直肠癌的发病率和死亡率呈逐年上升趋势,年轻化为其重要特征。随着肿瘤治疗技术和辅助生殖技术的进步以及患者对生育质量要求的提高,基因阻断可避免遗传性肿瘤基因向下一代传递,已成为该类患者最佳的辅助生育策略选择。本文就遗传性结直肠癌的研究现状和基因阻断方法做一概述,并提出全流程解决方案。该方案亦可借鉴用于其他遗传性肿瘤的基因阻断实践。

The incidence and mortality of hereditary colorectal cancer are increasing year by year, and young age of onset is one of its most important features. With the advancement of tumor treatment and assisted reproductive technology and the increased demand of reproductive quality, pathogenic gene blocking is becoming the best strategy for these patients. Here we summarized the research status and specific methods of gene blocking for hereditary colorectal cancer, and proposed the whole-process solutions. Meanwhile, the protocol can also be used as a reference for gene blocking in other hereditary tumors.

图1 生育力保存全流程图注:虚线代表技术尚未成熟。PGT:胚胎植入前遗传学检测
图2 年轻肿瘤患者生育力保护流程图
[1]
Ma H, Brosens LAA, Offerhaus GJA, et al. Pathology and genetics of hereditary colorectal cancer[J]. Pathology, 2018, 50(1): 49-59.
[2]
Lynch HT, de la Chapelle A. Hereditary colorectal cancer[J]. N Engl J Med, 2003, 348(10): 919-932.
[3]
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[J].中华肿瘤杂志, 2018, 40(1):64-77.
[4]
Monahan KJ, Bradshaw N, Dolwani S, et al. Guidelines for the management of hereditary colorectal cancer from the British Society of Gastroenterology (BSG)/Association of Coloproctology of Great Britain and Ireland (ACPGBI)/United Kingdom Cancer Genetics Group (UKCGG)[J]. Gut, 2020, 69(3): 411-444.
[5]
Tomita N, Ishida H, Tanakaya K, et al. Japanese Society for Cancer of the Colon and Rectum (JSCCR) guidelines 2020 for the clinical practice of hereditary colorectal cancer[J]. Int J Clin Oncol, 2021, 26(8): 1353-1419.
[6]
Kupfer SS, Burke CA. Patients in whom to consider genetic evaluation and testing for hereditary colorectal cancer syndromes[J]. Am J Gastroenterol, 2020, 115(1): 1-4.
[7]
Hampel H, Kalady MF, Pearlman R, et al. Hereditary colorectal cancer[J]. Hematol Oncol Clin North Am, 2022, 36(3): 429-447.
[8]
Kim JC, Bodmer WF. Genotypic and phenotypic characteristics of hereditary colorectal cancer[J]. Ann Coloproctol, 2021, 37(6): 368-381.
[9]
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[J]. BMC Res Notes, 2014, 7: 734.
[10]
陈园园,颜宏利.遗传性结直肠癌及其基因阻断的研究现状与患者的临床管理[J].结直肠肛门外科, 2023, 29(2): 110-114.
[11]
Tulchinsky H, Keidar A, Strul H, et al. Extracolonic manifestations of familial adenomatous polyposis after proctocolectomy[J]. Arch Surg, 2005, 140(2): 159-163; discussion164.
[12]
Half E, Bercovich D, Rozen P. Familial adenomatous polyposis[J]. Orphanet J Rare Dis, 2009, 4: 22.
[13]
Te Paske IBAW, Ligtenberg MJL, Hoogerbrugge N, et al. Candidate gene discovery in hereditary colorectal cancer and polyposis syndromes-considerations for future studies[J]. Int J Mol Sci, 2020, 21(22): 8757.
[14]
Wang D, Liang S, Zhang X, et al. Targeted next-generation sequencing approach for molecular genetic diagnosis of hereditary colorectal cancer: Identification of a novel single nucleotide germline insertion in adenomatous polyposis coli gene causes familial adenomatous polyposis[J]. Mol Genet Genomic Med, 2019, 7(1): e00505.
[15]
Lambertini M, Del Mastro L, Pescio MC, et al. Cancer and fertility preservation: international recommendations from an expert meeting[J]. BMC Med, 2016, 14: 1.
[16]
Chian RC, Xu Y, Keilty D. Chapter 3 current challenges in immature oocyte cryopreservation[J]. Methods Mol Biol, 2017, 1568: 33-44.
[17]
Dolmans MM, Donnez J, Cacciottola L. Fertility preservation: the challenge of freezing and transplanting ovarian tissue[J]. Trends Mol Med, 2021, 27(8): 777-791.
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