Results 11 to 20 of about 1,537,452 (154)

Precision immuno-oncology approach for four malignant tumors in siblings with constitutional mismatch repair deficiency syndrome [PDF]

npj Precision Oncology
Constitutional mismatch repair deficiency (CMMRD) is a rare syndrome characterized by an increased incidence of cancer. It is caused by biallelic germline mutations in one of the four mismatch repair genes (MMR) genes: MLH1, MSH2, MSH6, or PMS2. Accurate
Hana Palova, Anirban Das, Petra Pokorna, Viera Bajciova, Zdenek Pavelka, Marta Jezova, Karol Pal, Jose R. Dimayacyac, Logine Negm, Lucie Stengs, Vanessa Bianchi, Klara Vejmelkova, Kristyna Noskova, Marie Jarosova, Sona Mejstrikova, Peter Mudry, Michal Kyr, Tomas Merta, Pavel Tinka, Klara Drabova, Stefania Aulicka, Robin Jugas, Uri Tabori, Ondrej Slaby, Jaroslav Sterba   +24 more
doaj   +3 more sources

Homozygous germ-line mutation of the PMS2 mismatch repair gene: a unique case report of constitutional mismatch repair deficiency (CMMRD) [PDF]

BMC Medical Genetics, 2017
Background Constitutional mismatch repair deficiency syndrome results from bi-allelic inheritance of mutations affecting the key DNA mismatch repair genes: MLH1, MSH2, MSH6 or PMS2.
N. C. Ramchander, N. A. J. Ryan, E. J. Crosbie, D. G. Evans   +3 more
doaj   +3 more sources

Diagnostic and therapeutic challenges of glioblastoma as an initial malignancy of constitutional mismatch repair deficiency (CMMRD): two case reports and a literature review [PDF]

BMC Medical Genomics, 2023
Background Constitutional mismatch repair deficiency (CMMRD) results from a biallelic germline pathogenic variant in a mismatch repair (MMR) gene. The most common CMMRD-associated malignancies are brain tumors; an accurate diagnosis is challenging when a
Shumpei Onishi, Fumiyuki Yamasaki, Kazuya Kuraoka, Akira Taguchi, Takeshi Takayasu, Kiwamu Akagi, Takao Hinoi   +6 more
doaj   +2 more sources

Constitutional mismatch repair deficiency in childhood colorectal cancer harboring a de novo variant in the MSH6 gene: a case report [PDF]

BMC Gastroenterology, 2021
Background Constitutional mismatch repair deficiency (CMMRD) is caused by biallelic pathogenic variants in one of the mismatch repair genes, and results in early onset colorectal cancer, leukemia, brain tumors and other childhood malignancies.
Keinosuke Hizuka, Shin-ichiro Hagiwara, Takatoshi Maeyama, Hitoshi Honma, Masanobu Kawai, Kiwamu Akagi, Michiko Yasuhara, Naohiro Tomita, Yuri Etani   +8 more
doaj   +2 more sources

Clinical and molecular characteristics of constitutional mismatch repair deficiency syndrome: a case series of five children and appraisal of diagnostic guidelines [PDF]

Diagnostic Pathology
DNA mismatch repair (MMR) is critical for maintaining genome integrity through correction of single-base mismatches and insertion-deletion loops arising from DNA replication.
Jennifer Vazzano Goldstone, Suzanna J. Logan, Benjamin J. Wilkins, Suzanne P. MacFarland, Miriam Conces, Daniel R. Boué, Christopher R. Pierson, Samir Kahwash, Kathleen M. Schieffer, Catherine E. Cottrell, Susan Colace, Kristin Zajo, Archana Shenoy   +12 more
doaj   +2 more sources

Biallelic Mismatch Repair Deficiency in an Adolescent Female

Case Reports in Genetics, 2018
Constitutional (Biallelic) Mismatch Repair Deficiency is a rare autosomal recessive disorder characterized by numerous cancers presenting as early as the first decade of life.
Amber Hildreth, Mark A. Valasek, Irene Thung, Thomas Savides, Mamata Sivagnanam, Sonia Ramamoorthy, Sherry Huang   +6 more
doaj   +2 more sources

Establishment and molecular profiling of a PDX model of a metachronous brain tumor in a patient with constitutional mismatch repair deficiency with biallelic MSH6 variant [PDF]

Animal Models and Experimental Medicine
Background Constitutional mismatch repair deficiency (CMMRD) is a rare disorder resulting from biallelic germline pathogenic variants in mismatch repair genes.
Daniel Antunes Moreno, Bruna Minniti Mançano, Mirella Baroni, Eric Allison Philot, Felipe Antonio deOliveira Garcia, Murilo Bonatelli, Flávia Escremim dePaula, Iara Viana Vidigal Santana, Gustavo Ramos Teixeira, Mauricio Yamanari, Luciane Sussuchi daSilva, André Escremim dePaula, Augusto Perazzolo Antoniazzi, Adrian Willig, Xiaobin Xing, Zhenyu Xu, Lucas Lourenço, Carlos Almeida Junior, Silvia Aparecida Teixeira, Rui Manuel Reis   +19 more
doaj   +2 more sources

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

Hereditary Cancer in Clinical Practice, 2021
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
Tong Xie, Qin Feng, Zhongwu Li, Ming Lu, Jian Li, Analyn Lizaso, Jianxing Xiang, Lu Zhang, Lin Shen, Zhi Peng   +9 more
doaj   +2 more sources

The Challenge of Diagnosing Constitutional Mismatch Repair Deficiency Syndrome in Brain Malignancies from Young Individuals [PDF]

International Journal of Molecular Sciences, 2021
Cristina Carrato, Marta Pineda, Ignacio Blanco   +2 more
exaly   +2 more sources

T‐cell lymphoblastic lymphoma in constitutional mismatch repair deficiency (CMMRD): Exploring treatment opportunities [PDF]

HemaSphere
Emma Kroeze, Dilys D. Weijers, Michelle M. Kleisman, Uri Ilan, Reno S. Bladergroen, Rico Hagelaar, Jules P. P. Meijerink, Marjolijn C. J. Jongmans, Jan L. C. Loeffen, Roland P. Kuiper   +9 more
doaj   +2 more sources