Heterogeneous constitutional mismatch repair deficiency with MSH6 missense mutation clinically benefits from pembrolizumab and regorafenib combination therapy: a case report and literature review

Abstract Background Germline DNA mismatch repair (MMR) gene aberrations are associated with colorectal cancer (CRC) predisposition and high tumor mutation burden (TMB-H), with increased likelihood of favorable response to immune checkpoint inhibitors (ICIs). Case presentation We present a 32-year ol...

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Principais autores:	Tong Xie, Qin Feng, Zhongwu Li, Ming Lu, Jian Li, Analyn Lizaso, Jianxing Xiang, Lu Zhang, Lin Shen, Zhi Peng
Formato:	Artigo
Idioma:	Inglês
Publicado:	BMC 2021-01-01
Series:	Hereditary Cancer in Clinical Practice
Assuntos:	CMMRD MSH6 Heterogeneity ICI Case report
Acceso en liña:	https://doi.org/10.1186/s13053-021-00165-2
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