Publications:

Case Report and Literature Review: Diagnosis, Tailored Genetic Counseling and Cancer Prevention for a Locally Advanced dMMR/MSI-H/TMB-H Lung Cancer Patient With Concurrent Lynch Syndrome Mediated by a Rare PMS2 Splicing Variant (c.1144+1G>A).

Frontiers In Genetics

Han, Quanli Q; Liu, Si S; Cui, Zhi Z; Wang, Qi Q; Ma, Tonghui T; Jiang, Liwen L; Li, Xiaomo X; Dai, Guanghai G

Publication Date: 2021

Variant appearance in text: MSH2: 340delG; E114Rfs*60

PubMed Link: 35116055

Variant Present in the following documents:

• Main text
• fgene-12-799807.pdf

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Identification of Germline Mismatch Repair Gene Mutations in Lung Cancer Patients With Paired Tumor-Normal Next Generation Sequencing: A Retrospective Study.

Frontiers In Oncology

Sun, Sibo S; Liu, Yiqian Y; Eisfeld, Ann-Kathrin AK; Zhen, Fuxi F; Jin, Shidai S; Gao, Wen W; Yu, Tongfu T; Chen, Liang L; Wang, Wei W; Chen, Wei W; Yuan, Mingming M; Chen, Rongrong R; He, Kai K; Guo, Renhua R

Publication Date: 2019

Variant appearance in text: MSH2: 340delG; E114Rfs

PubMed Link: 31297337

Variant Present in the following documents:

• Main text
• fonc-09-00550.pdf

View BVdb publication page