Germ Cell Mosaicism: A Rare Cause of Li-Fraumeni Recurrence Among Siblings.
作者信息
Donovan Lauren N, Kohlmann Wendy, Snow Angela K, Neklason Deborah W, Schiffman Joshua D, Maese Luke
机构信息
University of Utah School of Medicine, Salt Lake City, UT.
University of Utah Huntsman Cancer Institute, Salt Lake City, UT.
出版信息
JCO Precis Oncol. 2020 Jun 16;4. doi: 10.1200/PO.20.00064. eCollection 2020.
Abstract
摘要
相似文献
1
Germ Cell Mosaicism: A Rare Cause of Li-Fraumeni Recurrence Among Siblings.生殖细胞镶嵌现象：李-弗劳梅尼综合征在兄弟姐妹中复发的罕见原因。
JCO Precis Oncol. 2020 Jun 16;4. doi: 10.1200/PO.20.00064. eCollection 2020.
2
p53 mosaicism with an exon 8 germline mutation in the founder of a cancer-prone pedigree.在一个癌症易患家系的奠基人身上发现具有第8外显子种系突变的p53镶嵌现象。
Oncogene. 1992 Nov;7(11):2169-73.
3
Pediatric cancer and Li-Fraumeni/Li-Fraumeni-like syndromes: a review for the pediatrician.儿童癌症与李-弗劳梅尼/李-弗劳梅尼样综合征：儿科医生综述
Rev Assoc Med Bras (1992). 2015 May-Jun;61(3):282-9. doi: 10.1590/1806-9282.61.03.282.
4
Rhabdoid tumor predisposition syndrome caused by SMARCB1 constitutional deletion: prenatal detection of new case of recurrence in siblings due to gonadal mosaicism.由SMARCB1基因胚系缺失引起的横纹肌瘤易感综合征：因生殖腺嵌合导致同胞中复发性新病例的产前检测。
Fam Cancer. 2016 Jan;15(1):123-6. doi: 10.1007/s10689-015-9836-6.
5
Li-Fraumeni syndrome: not a straightforward diagnosis anymore-the interpretation of pathogenic variants of low allele frequency and the differences between germline PVs, mosaicism, and clonal hematopoiesis.李-佛美尼综合征：诊断不再简单——低等位基因频率致病变异的解读及种系 PV、嵌合体和克隆性造血之间的差异。
Breast Cancer Res. 2019 Sep 18;21(1):107. doi: 10.1186/s13058-019-1193-1.
6
TP53 and CDKN1A mutation analysis in families with Li-Fraumeni and Li-Fraumeni like syndromes.李-佛美尼综合征及类李-佛美尼综合征家族中的TP53和CDKN1A突变分析
Fam Cancer. 2017 Apr;16(2):243-248. doi: 10.1007/s10689-016-9935-z.
7
Case Report : Li-Fraumeni Syndrome with Central Nervous System Tumors in Two Siblings.病例报告：两兄妹均患李-佛美尼综合征合并中枢神经系统肿瘤。
BMC Pediatr. 2021 Dec 27;21(1):588. doi: 10.1186/s12887-021-03070-8.
8
Characteristics of TP53 germline variants and their correlations with Li-Fraumeni syndrome or Li-Fraumeni-like syndrome in Chinese tumor patients.中国肿瘤患者中 TP53 种系变异的特征及其与 Li-Fraumeni 综合征或 Li-Fraumeni 样综合征的相关性。
J Genet Genomics. 2022 Jul;49(7):645-653. doi: 10.1016/j.jgg.2021.12.012. Epub 2022 Jan 14.
9
Analysis of the Li-Fraumeni Spectrum Based on an International Germline TP53 Variant Data Set: An International Agency for Research on Cancer TP53 Database Analysis.基于国际胚系 TP53 变异数据集中的 Li-Fraumeni 谱分析：国际癌症研究机构 TP53 数据库分析。
JAMA Oncol. 2021 Dec 1;7(12):1800-1805. doi: 10.1001/jamaoncol.2021.4398.
10
[Li-Fraumeni syndrome].[李-弗劳梅尼综合征]
Bull Cancer. 1997 Jul;84(7):735-40.
引用本文的文献
1
Case Report : Li-Fraumeni Syndrome with Central Nervous System Tumors in Two Siblings.病例报告：两兄妹均患李-佛美尼综合征合并中枢神经系统肿瘤。
BMC Pediatr. 2021 Dec 27;21(1):588. doi: 10.1186/s12887-021-03070-8.
本文引用的文献
1
Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology.遗传/家族性高风险评估：乳腺癌、卵巢癌和胰腺癌，第 2.2021 版，NCCN 肿瘤学临床实践指南。
J Natl Compr Canc Netw. 2021 Jan 6;19(1):77-102. doi: 10.6004/jnccn.2021.0001.
2
Li-Fraumeni syndrome: not a straightforward diagnosis anymore-the interpretation of pathogenic variants of low allele frequency and the differences between germline PVs, mosaicism, and clonal hematopoiesis.李-佛美尼综合征：诊断不再简单——低等位基因频率致病变异的解读及种系 PV、嵌合体和克隆性造血之间的差异。
Breast Cancer Res. 2019 Sep 18;21(1):107. doi: 10.1186/s13058-019-1193-1.
3
Cost-effectiveness of early cancer surveillance for patients with Li-Fraumeni syndrome.Li-Fraumeni 综合征患者早期癌症监测的成本效益分析。
Pediatr Blood Cancer. 2019 May;66(5):e27629. doi: 10.1002/pbc.27629. Epub 2019 Feb 4.
4
Preimplantation Genetic Screening and Preimplantation Genetic Diagnosis.胚胎植入前遗传学筛查与诊断。
Obstet Gynecol Clin North Am. 2018 Mar;45(1):113-125. doi: 10.1016/j.ogc.2017.10.009.
5
Revisiting tumor patterns and penetrance in germline TP53 mutation carriers: temporal phases of Li-Fraumeni syndrome.重新审视种系TP53突变携带者的肿瘤模式和外显率：李-弗劳梅尼综合征的时间阶段
Curr Opin Oncol. 2018 Jan;30(1):23-29. doi: 10.1097/CCO.0000000000000423.
6
Contribution of de novo and mosaic mutations to Li-Fraumeni syndrome.新生突变和镶嵌突变对 Li-Fraumeni 综合征的贡献。
J Med Genet. 2018 Mar;55(3):173-180. doi: 10.1136/jmedgenet-2017-104976. Epub 2017 Oct 25.
7
Baseline Surveillance in Li-Fraumeni Syndrome Using Whole-Body Magnetic Resonance Imaging: A Meta-analysis.基于全身磁共振成像的 Li-Fraumeni 综合征的基线监测：一项荟萃分析。
JAMA Oncol. 2017 Dec 1;3(12):1634-1639. doi: 10.1001/jamaoncol.2017.1968.
8
Genetic Counselor Recommendations for Cancer Predisposition Evaluation and Surveillance in the Pediatric Oncology Patient.遗传咨询师对儿科肿瘤患者癌症易感性评估和监测的建议。
Clin Cancer Res. 2017 Jul 1;23(13):e91-e97. doi: 10.1158/1078-0432.CCR-17-0834.
9
Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: 11 year follow-up of a prospective observational study.胚系 TP53 突变携带者 Li-Fraumeni 综合征的生化和影像学监测：前瞻性观察研究的 11 年随访。
Lancet Oncol. 2016 Sep;17(9):1295-305. doi: 10.1016/S1470-2045(16)30249-2. Epub 2016 Aug 5.
10
Surveillance recommendations for patients with germline TP53 mutations.种系TP53突变患者的监测建议。
Curr Opin Oncol. 2015 Jul;27(4):332-7. doi: 10.1097/CCO.0000000000000200.
Zotero 插件