卵巢癌和子宫内膜癌的遗传基因。
The inherited genetics of ovarian and endometrial cancer.
机构信息
EGA Institute for Women's Health, Gynaecological Cancer Research Laboratories, University College London, London, UK.
出版信息
Curr Opin Genet Dev. 2010 Jun;20(3):231-8. doi: 10.1016/j.gde.2010.03.001. Epub 2010 Apr 24.
Abstract
Endometrial and epithelial ovarian cancers are the fourth and fifth most common cancers in women in developed countries, after breast, lung, and colorectal cancer. In the United States alone, in 2008 there were about 40,000 new diagnoses of endometrial cancer and 7500 disease-related deaths. For ovarian cancer, there were about 22,000 new diagnoses and 15,000 deaths over the same period. The purpose of this article is to review the recent developments in the inherited genetics of ovarian and endometrial cancer, with particular attention to recent progress in identifying common low-penetrance susceptibility genes and their clinical implications.
摘要
在发达国家，子宫内膜癌和上皮性卵巢癌是女性中第四和第五大常见癌症，排在乳腺癌、肺癌和结直肠癌之后。仅在美国，2008 年就有约 4 万例子宫内膜癌新发病例和 7500 例与疾病相关的死亡。同期卵巢癌的新发病例约为 2.2 万例，死亡约 1.5 万例。本文旨在综述卵巢癌和子宫内膜癌遗传易感性的最新研究进展，特别关注识别常见低外显率易感基因的最新进展及其临床意义。
相似文献
1
The inherited genetics of ovarian and endometrial cancer.卵巢癌和子宫内膜癌的遗传基因。
Curr Opin Genet Dev. 2010 Jun;20(3):231-8. doi: 10.1016/j.gde.2010.03.001. Epub 2010 Apr 24.
2
Impact of promoter SNP55 (rs2870820) on risk of endometrial and ovarian cancer.启动子 SNP55（rs2870820）对子宫内膜癌和卵巢癌风险的影响。
Biomarkers. 2021 Jun;26(4):302-308. doi: 10.1080/1354750X.2021.1891291. Epub 2021 Feb 28.
3
Role of common genetic variants in ovarian cancer susceptibility and outcome: progress to date from the Ovarian Cancer Association Consortium (OCAC).常见遗传变异在卵巢癌易感性和结局中的作用：来自卵巢癌协会联盟（OCAC）的最新进展。
J Intern Med. 2012 Apr;271(4):366-78. doi: 10.1111/j.1365-2796.2011.02509.x.
4
Gynecologic manifestations of hereditary nonpolyposis colorectal cancer. From inherited to sporadic disease.遗传性非息肉病性结直肠癌的妇科表现。从遗传性疾病到散发性疾病。
Oncology (Williston Park). 2006 Jan;20(1):85-94; discussion 94-6, 100.
5
Genetic Contribution of Endometriosis to the Risk of Developing Hormone-Related Cancers.子宫内膜异位症对激素相关癌症发病风险的遗传贡献。
Int J Mol Sci. 2021 Jun 4;22(11):6083. doi: 10.3390/ijms22116083.
6
Cross-Cancer Genome-Wide Association Study of Endometrial Cancer and Epithelial Ovarian Cancer Identifies Genetic Risk Regions Associated with Risk of Both Cancers.子宫内膜癌和上皮性卵巢癌的跨癌种全基因组关联研究鉴定了与两种癌症风险相关的遗传风险区域。
Cancer Epidemiol Biomarkers Prev. 2021 Jan;30(1):217-228. doi: 10.1158/1055-9965.EPI-20-0739. Epub 2020 Nov 3.
7
Low-penetrance susceptibility to hematological malignancy.低外显率血液系统恶性肿瘤易感性。
Curr Opin Genet Dev. 2010 Jun;20(3):245-50. doi: 10.1016/j.gde.2010.03.004. Epub 2010 Apr 8.
8
Screening and prevention of hereditary gynecologic cancers.遗传性妇科癌症的筛查与预防
Semin Oncol. 2007 Oct;34(5):406-10. doi: 10.1053/j.seminoncol.2007.07.004.
9
Family history of hormonal cancers and colorectal cancer risk: a case-control study conducted in Ontario.激素相关癌症家族史与结直肠癌风险：在安大略省开展的一项病例对照研究
Int J Cancer. 2009 Aug 15;125(4):918-25. doi: 10.1002/ijc.24385.
10
Association of Mismatch Repair Mutation With Age at Cancer Onset in Lynch Syndrome: Implications for Stratified Surveillance Strategies.错配修复基因突变与林奇综合征发病年龄的关联：对分层监测策略的影响。
JAMA Oncol. 2017 Dec 1;3(12):1702-1706. doi: 10.1001/jamaoncol.2017.0619.
引用本文的文献
1
Comparative sequencing study of mismatch repair and homology-directed repair genes in endometrial cancer and breast cancer patients from Kazakhstan.哈萨克斯坦子宫内膜癌和乳腺癌患者错配修复与同源重组修复基因的比较测序研究
Int J Cancer. 2025 Feb 15;156(4):764-775. doi: 10.1002/ijc.35215. Epub 2024 Oct 14.
2
Sindbis Virus Vaccine Platform: A Promising Oncolytic Virus-Mediated Approach for Ovarian Cancer Treatment.辛德毕斯病毒疫苗平台：一种用于卵巢癌治疗的有前景的溶瘤病毒介导方法。
Int J Mol Sci. 2024 Mar 2;25(5):2925. doi: 10.3390/ijms25052925.
3
Hysterectomy and thyroid cancer risk: A systematic review and meta-analysis.子宫切除术与甲状腺癌风险：一项系统评价与荟萃分析
Glob Epidemiol. 2023 Oct 5;6:100122. doi: 10.1016/j.gloepi.2023.100122. eCollection 2023 Dec.
4
Epidemiology and risk factors for ovarian cancer.卵巢癌的流行病学及危险因素
Prz Menopauzalny. 2023 Jun;22(2):93-104. doi: 10.5114/pm.2023.128661. Epub 2023 Jun 14.
5
Cutaneous Metastasis of Endometrial Cancer and Long-Term Survival: A Scoping Review and Our Experience.子宫内膜癌的皮肤转移与长期生存：一项范围综述及我们的经验
Diagnostics (Basel). 2023 Aug 4;13(15):2603. doi: 10.3390/diagnostics13152603.
6
Upgrading Treatment and Molecular Diagnosis in Endometrial Cancer-Driving New Tools for Endometrial Preservation?子宫内膜癌的治疗与分子诊断升级——为子宫内膜保护带来新工具？
Int J Mol Sci. 2023 Jun 5;24(11):9780. doi: 10.3390/ijms24119780.
7
The epidemiology of multiple primary cancers in Belgium (2004-2017): Incidence, proportion, risk, stage and impact on relative survival estimates.比利时多原发癌的流行病学（2004-2017）：发病率、比例、风险、分期及对相对生存估计的影响。
BMC Cancer. 2023 Apr 17;23(1):349. doi: 10.1186/s12885-023-10777-7.
8
Multimerin 1 aids in the progression of ovarian cancer possibly via modulation of DNA damage response and repair pathways.多聚体蛋白1可能通过调节DNA损伤反应和修复途径来促进卵巢癌的进展。
Mol Cell Biochem. 2023 Oct;478(10):2395-2403. doi: 10.1007/s11010-023-04668-5. Epub 2023 Feb 1.
9
Pan-Asian adapted ESMO Clinical Practice Guidelines for the diagnosis, treatment and follow-up of patients with endometrial cancer.泛亚地区适应性欧洲肿瘤内科学会（ESMO）子宫内膜癌诊断、治疗和随访临床实践指南。
ESMO Open. 2023 Feb;8(1):100774. doi: 10.1016/j.esmoop.2022.100774. Epub 2023 Jan 23.
10
Clinicopathological Prognostic Parameters of Endometrioid Endometrial Carcinomas.子宫内膜样子宫内膜癌的临床病理预后参数
Curr Health Sci J. 2022 Apr-Jun;48(2):187-195. doi: 10.12865/CHSJ.48.02.08. Epub 2022 Jun 30.
本文引用的文献
1
Risks of Lynch syndrome cancers for MSH6 mutation carriers.MSH6 突变携带者的林奇综合征癌症风险。
J Natl Cancer Inst. 2010 Feb 3;102(3):193-201. doi: 10.1093/jnci/djp473. Epub 2009 Dec 22.
2
Penetrance of colorectal cancer among MLH1/MSH2 carriers participating in the colorectal cancer familial registry in Ontario.参与安大略省结直肠癌家族登记的MLH1/MSH2携带者中结直肠癌的外显率。
Hered Cancer Clin Pract. 2009 Aug 23;7(1):14. doi: 10.1186/1897-4287-7-14.
3
A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2.一项全基因组关联研究在9号染色体短臂22.2区域发现了一个新的卵巢癌易感位点。
Nat Genet. 2009 Sep;41(9):996-1000. doi: 10.1038/ng.424. Epub 2009 Aug 2.
4
Inhibition of poly(ADP-ribose) polymerase in tumors from BRCA mutation carriers.对携带BRCA突变的肿瘤中聚（ADP - 核糖）聚合酶的抑制作用。
N Engl J Med. 2009 Jul 9;361(2):123-34. doi: 10.1056/NEJMoa0900212. Epub 2009 Jun 24.
5
Role of genetic polymorphisms and ovarian cancer susceptibility.基因多态性与卵巢癌易感性的作用。
Mol Oncol. 2009 Apr;3(2):171-81. doi: 10.1016/j.molonc.2009.01.008. Epub 2009 Feb 4.
6
The contribution of BRCA1 and BRCA2 to ovarian cancer.BRCA1和BRCA2在卵巢癌中的作用。
Mol Oncol. 2009 Apr;3(2):138-50. doi: 10.1016/j.molonc.2009.02.001. Epub 2009 Feb 10.
7
Family history of cancer and the risk of endometrial cancer.癌症家族史与子宫内膜癌风险
Eur J Cancer Prev. 2009 Apr;18(2):95-9. doi: 10.1097/CEJ.0b013e328305a0c9.
8
Sensitivity and specificity of multimodal and ultrasound screening for ovarian cancer, and stage distribution of detected cancers: results of the prevalence screen of the UK Collaborative Trial of Ovarian Cancer Screening (UKCTOCS).多模式及超声筛查卵巢癌的敏感性和特异性，以及所检测癌症的分期分布：英国卵巢癌筛查协作试验（UKCTOCS）患病率筛查结果
Lancet Oncol. 2009 Apr;10(4):327-40. doi: 10.1016/S1470-2045(09)70026-9. Epub 2009 Mar 11.
9
Single nucleotide polymorphisms in the TP53 region and susceptibility to invasive epithelial ovarian cancer.TP53区域的单核苷酸多态性与侵袭性上皮性卵巢癌易感性
Cancer Res. 2009 Mar 15;69(6):2349-57. doi: 10.1158/0008-5472.CAN-08-2902. Epub 2009 Mar 10.
10
Endometrial cancer and Lynch syndrome: clinical and pathologic considerations.子宫内膜癌与林奇综合征：临床及病理考量
Cancer Control. 2009 Jan;16(1):14-22. doi: 10.1177/107327480901600103.
Zotero 插件