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一名下咽鳞状细胞癌患者存在致病性种系变异。

A pathogenic germline variant in a patient with hypopharyngeal squamous cell carcinoma.

作者信息

Correa Tatiana, Laux Douglas E, Hoffman Henry T

机构信息

Department of Otolaryngology - Head and Neck Surgery University of Iowa Iowa City IA USA.

Department of Internal Medicine-Hematology, Oncology & Bone Marrow Transplant University of Iowa Iowa City IA USA.

出版信息

Clin Case Rep. 2020 Nov 25;9(1):429-432. doi: 10.1002/ccr3.3548. eCollection 2021 Jan.

DOI:10.1002/ccr3.3548
PMID:33489192
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7813105/
Abstract

Pathogenic germline variants may be associated with an increased risk of hypopharyngeal squamous cell carcinoma that is more responsive to chemoradiation and chemotherapeutics targeting defective double-strand DNA repair.

摘要

致病性种系变异可能与下咽鳞状细胞癌风险增加相关，这种癌症对针对缺陷双链DNA修复的放化疗更敏感。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9046/7813105/2301896729d7/CCR3-9-429-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9046/7813105/d0255cd9b89a/CCR3-9-429-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9046/7813105/2301896729d7/CCR3-9-429-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9046/7813105/d0255cd9b89a/CCR3-9-429-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9046/7813105/2301896729d7/CCR3-9-429-g002.jpg

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Br J Cancer. 2020 Feb;122(3):333-339. doi: 10.1038/s41416-019-0582-7. Epub 2019 Dec 2.
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Natural History of Treated and Untreated Hypopharyngeal Cancer.经治疗和未经治疗的下咽癌的自然病史。
Adv Otorhinolaryngol. 2019;83:27-34. doi: 10.1159/000492305. Epub 2019 Feb 12.
3
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4
The FA/BRCA Pathway Identified as the Major Predictor of Cisplatin Response in Head and Neck Cancer by Functional Genomics.通过功能基因组学确定FA/BRCA通路是头颈癌顺铂反应的主要预测指标。
Mol Cancer Ther. 2017 Mar;16(3):540-550. doi: 10.1158/1535-7163.MCT-16-0457. Epub 2016 Dec 15.
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Cancer risks in BRCA2 families: estimates for sites other than breast and ovary.BRCA2基因家族中的癌症风险：对乳腺和卵巢以外部位的估计
J Med Genet. 2005 Sep;42(9):711-9. doi: 10.1136/jmg.2004.028829.