种系TP53突变从男性携带者向女性伴侣的传递。 - Suppr

Transmission of germline TP53 mutations from male carriers to female partners.

作者信息

Patrier-Sallebert Sophie, Bougeard Gaëlle, Baert-Desurmont Stéphanie, Lamy Aude, Flaman Jean-Michel, Mansuy Ludovic, Bronner Myriam, Lasset Christine, Brugières Laurence, Golfier François, Frebourg Thierry

机构信息

Department of Pathology, University Hospital, Rouen, France.

Inserm U1079, University of Rouen, Institute for Research and Innovation in Biomedicine, Rouen, France.

出版信息

J Med Genet. 2015 Mar;52(3):145-6. doi: 10.1136/jmedgenet-2014-102853. Epub 2015 Jan 22.

DOI:10.1136/jmedgenet-2014-102853

PMID:25612911

Abstract

摘要

相似文献

Transmission of germline TP53 mutations from male carriers to female partners.种系TP53突变从男性携带者向女性伴侣的传递。

J Med Genet. 2015 Mar;52(3):145-6. doi: 10.1136/jmedgenet-2014-102853. Epub 2015 Jan 22.

Transmission of a germline mutation from unaffected male carrier associated with pediatric glioblastoma in his child and gestational choriocarcinoma in his female partner.一名未受影响的男性携带者的生殖系突变传递给了他的孩子，导致小儿胶质母细胞瘤，同时也传递给了他的女性伴侣，导致妊娠性绒毛膜癌。

Cold Spring Harb Mol Case Stud. 2018 Apr 2;4(2). doi: 10.1101/mcs.a002576. Print 2018 Apr.

Identification of a novel TP53 germline mutation in a large Italian Li-Fraumeni syndrome Family.在一个大型意大利李-弗劳梅尼综合征家族中鉴定出一种新的TP53种系突变。

Pediatr Blood Cancer. 2009 Feb;52(2):303-4. doi: 10.1002/pbc.21796.

Germline TP53 mutations and Li-Fraumeni syndrome.种系TP53突变与李-弗劳梅尼综合征。

Hum Mutat. 2003 Mar;21(3):313-20. doi: 10.1002/humu.10185.

The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families.TP53基因的R337H突变与巴西家族中的李-佛美尼综合征及李-佛美尼样综合征相关。

Cancer Lett. 2007 Jan 8;245(1-2):96-102. doi: 10.1016/j.canlet.2005.12.039. Epub 2006 Feb 21.

Increased sperm aneuploidy in two male carriers of germline TP53 mutations.

Cancer Genet. 2011 May;204(5):278-81. doi: 10.1016/j.cancergen.2011.03.003.

High frequency of de novo mutations in Li-Fraumeni syndrome.李-弗劳梅尼综合征中新生突变的高频率。

J Med Genet. 2009 Oct;46(10):689-93. doi: 10.1136/jmg.2008.058958. Epub 2009 Jun 25.

Gestational choriocarcinoma associated with a germline TP53 mutation.与种系TP53突变相关的妊娠性绒毛膜癌。

Fam Cancer. 2018 Jan;17(1):113-117. doi: 10.1007/s10689-017-9996-7.

TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes.180 个疑似李-佛美尼综合征家族的 TP53 种系突变检测：不同家族表型中癌症的突变检出率和相对频率。

J Med Genet. 2010 Jun;47(6):421-8. doi: 10.1136/jmg.2009.073429.

Genetic and functional studies of a germline TP53 splicing mutation in a Li-Fraumeni-like family.一个李-佛美尼综合征样家族中种系TP53剪接突变的遗传学和功能研究。

Oncogene. 1998 Jun 25;16(25):3291-8. doi: 10.1038/sj.onc.1201878.

引用本文的文献

Report of a bi-allelic truncating germline mutation in TP53.TP53基因双等位基因截短种系突变报告。

Fam Cancer. 2019 Jan;18(1):101-104. doi: 10.1007/s10689-018-0087-1.

Cold Spring Harb Mol Case Stud. 2018 Apr 2;4(2). doi: 10.1101/mcs.a002576. Print 2018 Apr.

Clinical characteristics and registry-validated extended pedigrees of germline TP53 mutation carriers in Denmark.丹麦种系TP53突变携带者的临床特征及经登记验证的扩展谱系

PLoS One. 2018 Jan 11;13(1):e0190050. doi: 10.1371/journal.pone.0190050. eCollection 2018.

Gestational choriocarcinoma associated with a germline TP53 mutation.与种系TP53突变相关的妊娠性绒毛膜癌。

Fam Cancer. 2018 Jan;17(1):113-117. doi: 10.1007/s10689-017-9996-7.

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

Transmission of germline TP53 mutations from male carriers to female partners.

作者信息

机构信息

出版信息

相似文献

引用本文的文献

文献检索

文件翻译

深度研究

Suppr 超能文献

相似文献

引用本文的文献