Cargando…

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

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 old male...

Descripción completa

Detalles Bibliográficos
Autores principales:	Xie, Tong, Feng, Qin, Li, Zhongwu, Lu, Ming, Li, Jian, Lizaso, Analyn, Xiang, Jianxing, Zhang, Lu, Shen, Lin, Peng, Zhi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7797131/ https://www.ncbi.nlm.nih.gov/pubmed/33422121 http://dx.doi.org/10.1186/s13053-021-00165-2

Ejemplares similares

Rare compound heterozygous mutations in gene MSH6 cause constitutive mismatch repair deficiency syndrome
por: Ling, Chao, et al.
Publicado: (2018)

Exceptional Response to Pembrolizumab in a Mismatch Repair-Deficient Aggressive Prostate Cancer with Somatic EPCAM, MSH2, and MSH6 Co-Deletion: A Case Report
por: Hoch, Dennis, et al.
Publicado: (2023)

Survival Benefit for Individuals With Constitutional Mismatch Repair Deficiency Undergoing Surveillance
por: Durno, Carol, et al.
Publicado: (2021)

Cadmium inhibits mismatch repair by blocking the ATPase activity of the MSH2–MSH6 complex
por: Banerjee, Sreeparna, et al.
Publicado: (2005)

Cadmium inhibits mismatch repair by blocking the ATPase activity of the MSH2–MSH6 complex
por: Banerjee, Sreeparna, et al.
Publicado: (2005)

Mlh1 interacts with both Msh2 and Msh6 for recruitment during mismatch repair
por: DuPrie, Matthew L., et al.
Publicado: (2022)

Prerecognition Diffusion Mechanism of Human DNA Mismatch Repair Proteins along DNA: Msh2-Msh3 versus Msh2-Msh6
por: Pal, Arumay, et al.
Publicado: (2020)

Constitutional mismatch repair deficiency in childhood colorectal cancer harboring a de novo variant in the MSH6 gene: a case report
por: Hizuka, Keinosuke, et al.
Publicado: (2021)

NPM-ALK mediates phosphorylation of MSH2 at tyrosine 238, creating a functional deficiency in MSH2 and the loss of mismatch repair
por: Bone, K M, et al.
Publicado: (2015)

Immunohistochemical Loss of the DNA Mismatch Repair Proteins MSH2 and MSH6 in Malignant Fibrous Histiocytomas
por: Ericson, Kajsa, et al.
Publicado: (2004)

OTUB1 stabilizes mismatch repair protein MSH2 by blocking ubiquitination
por: Wu, Qiong, et al.
Publicado: (2021)

Characterization and comparative sequence analysis of the DNA mismatch repair MSH2 and MSH7 genes from tomato
por: Tam, Sheh May, et al.
Publicado: (2009)

Mismatch Recognition by Saccharomyces cerevisiae Msh2-Msh6: Role of Structure and Dynamics
por: Li, Yan, et al.
Publicado: (2019)

Constitutional mismatch repair deficiency syndrome: Do we know it?
por: Ramachandra, C., et al.
Publicado: (2014)

The properties of Msh2–Msh6 ATP binding mutants suggest a signal amplification mechanism in DNA mismatch repair
por: Graham, William J., et al.
Publicado: (2018)

An Evaluation of the Immunohistochemical Expression of Mismatch Repair Proteins (MSH2, MSH6, MLH1, and PMS2) in Prostate Adenocarcinoma
por: Javeed, Saira, et al.
Publicado: (2022)

First reported case of alveolar soft part sarcoma in constitutional mismatch repair deficiency syndrome tumor spectrum - diagnosed in one of the siblings with constitutional mismatch repair deficiency
por: Modi, Mitul Bipinchandra, et al.
Publicado: (2017)

Constitutional mismatch repair-deficiency: current problems and emerging therapeutic strategies
por: Abedalthagafi, Malak
Publicado: (2018)

Constitutional Mismatch Repair Deficiency Syndrome in a patient from India
por: Paul, Chandramallika, et al.
Publicado: (2020)

The mismatch-repair proteins MSH2 and MSH6 interact with the imprinting control regions through the ZFP57-KAP1 complex
por: Acurzio, Basilia, et al.
Publicado: (2022)

DNA mismatch repair gene MSH6 implicated in determining age at natural menopause
por: Perry, John R.B., et al.
Publicado: (2014)

The Aspergillus fumigatus Mismatch Repair MSH2 Homolog Is Important for Virulence and Azole Resistance
por: dos Reis, Thaila Fernanda, et al.
Publicado: (2019)

Pembrolizumab in Asian patients with microsatellite‐instability‐high/mismatch‐repair‐deficient colorectal cancer
por: Yoshino, Takayuki, et al.
Publicado: (2022)

Expression of human DNA mismatch-repair protein, hMSH2, in patients with oral lichen planus
por: LI, HAO-BO, et al.
Publicado: (2015)

Screening of the DNA mismatch repair genes MLH1, MSH2 and MSH6 in a Greek cohort of Lynch syndrome suspected families
por: Thodi, Georgia, et al.
Publicado: (2010)

Mismatch Repair Proteins and Microsatellite Instability in Colorectal Carcinoma (MLH1, MSH2, MSH6 and PMS2): Histopathological and Immunohistochemical Study
por: Ismael, Nour El Hoda S., et al.
Publicado: (2017)

Mismatch-repair protein MSH6 is associated with Ku70 and regulates DNA double-strand break repair
por: Shahi, Ankita, et al.
Publicado: (2011)

Genetic Analysis Reveals the Prognostic Significance of the DNA Mismatch Repair Gene MSH2 in Advanced Prostate Cancer
por: Chang, Hao-Han, et al.
Publicado: (2022)

Mismatch Repair Protein Msh2 Is Necessary for Macronuclear Stability and Micronuclear Division in Tetrahymena thermophila
por: Wang, Lin, et al.
Publicado: (2023)

Challenges of Neoantigen Targeting in Lynch Syndrome and Constitutional Mismatch Repair Deficiency Syndrome
por: Abidi, Asima, et al.
Publicado: (2021)

DNA Polymerases as Potential Therapeutic Targets for Cancers Deficient in the DNA Mismatch Repair Proteins MSH2 or MLH1
por: Martin, Sarah A., et al.
Publicado: (2010)

BRCA2, EGFR, and NTRK mutations in mismatch repair-deficient colorectal cancers with MSH2 or MLH1 mutations
por: Deihimi, Safoora, et al.
Publicado: (2017)

Functional in silico analysis of missense mutations in the MSH6 gene
por: Gajdel, Katarzyna, et al.
Publicado: (2015)

Hypermethylation of mismatch repair gene hMSH2 associates with platinum-resistant disease in epithelial ovarian cancer
por: Tian, Hua, et al.
Publicado: (2019)

The DNA mismatch repair gene hMSH2 is a potent coactivator of oestrogen receptor α
por: Wada-Hiraike, O, et al.
Publicado: (2005)

Expression of hMSH2 protein of the human DNA mismatch repair system in oral lichen planus
por: Pimenta, Flávio Juliano Garcia Santos, et al.
Publicado: (2004)

Mismatch repair protein MSH2 regulates translesion DNA synthesis following exposure of cells to UV radiation
por: Lv, Lingna, et al.
Publicado: (2013)

Increased Hypermutation at G and C Nucleotides in Immunoglobulin Variable Genes from Mice Deficient in the MSH2 Mismatch Repair Protein
por: Phung, Quy H., et al.
Publicado: (1998)

Homozygous germ-line mutation of the PMS2 mismatch repair gene: a unique case report of constitutional mismatch repair deficiency (CMMRD)
por: Ramchander, N. C., et al.
Publicado: (2017)

Atypical dermal melanocytosis: a diagnostic clue in constitutional mismatch repair deficiency syndrome
por: Polubothu, S., et al.
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_52ts9mc6pas8hcdd1k6aq7ldep