微卫星不稳定性
生殖系
DNA错配修复
家族性腺瘤性息肉病
穆提
结直肠癌
医学
发育不良
种系突变
表型
遗传学
大肠腺瘤性息肉病
癌症
癌症研究
生物
基因
突变
微卫星
等位基因
作者
Marie‐Charlotte Villy,Julien Masliah‐Planchon,Anne Schnitzler,Hélène Delhomelle,Bruno Buecher,Mathilde Filser,Kevin Merchadou,Lisa Golmard,Samia Melaabi,Sophie Vacher,Maud Blanluet,Voreak Suybeng,Carole Corsini,Marion Dhooge,Nadim Hamzaoui,Solenne Farelly,Amal Ait Omar,Robert Benamouzig,Vincent Caumette,Michel Bahuau
标识
DOI：10.1136/jmg-2023-109341
摘要
This report lends further credence to biallelic MSH3 germline pathogenic variants being involved in colorectal and duodenal adenomatous polyposis. Large-scale studies may help clarify the tumour spectrum and associated risks. Ascertainment of EMAST may help with the interpretation of variants of unknown significance. We recommend adding MSH3 to dedicated diagnostic gene panels.
科研通智能强力驱动
Strongly Powered by AbleSci AI
PDF的下载单位、IP信息已删除
(2025-6-4)
null
乐空思
123
mmmm
学霸业
GingerF
Elsevier大王
Kevin Li
无极微光
kaio_escolar
My_magnum_opus
kk
lwj
152455
默默的紫真
草珊瑚
吃葡萄不吐葡萄皮
DW
渡人舟
arniu2008
皖公网安备34019202002308
