Results 1 to 10 of about 16,168 (189)

Novel MSH2 frameshift variant (c.579delG) in a patient with suspected Lynch syndrome in China [PDF]

Frontiers in Medicine
PurposeTo identify genetic variants in Chinese families with colorectal cancer.MethodsExpression of mismatch-repair proteins was assessed via immunohistochemistry in three probands. Genetic variants were identified using whole-exome sequencing. In silico
Haichun Ni, Xiufang Wang, Yi Zhu, Chengzhi He, Hengfei Li, Aiping Deng, Fei You, Juyi Li, Yi Hu   +8 more
doaj   +2 more sources

Genotype-phenotype correlations in PMS2-associated constitutional mismatch repair deficiency: a systematic literature review [PDF]

Oncology Reviews
Constitutional mismatch repair deficiency (CMMRD) is a rare pediatric cancer predisposition syndrome primarily characterised by central nervous system (CNS), gastro-intestinal (GI) tumours and hematological malignancies, along with NF1-like cutaneous ...
Cătălin Vasile Munteanu, Cătălin Vasile Munteanu, Diana Luisa Lighezan, Diana Luisa Lighezan, Alexandru Capcelea, Alexandru Capcelea, Adela Chiriță-Emandi, Adela Chiriță-Emandi, Adela Chiriță-Emandi, Adrian Pavel Trifa, Adrian Pavel Trifa, Adrian Pavel Trifa   +11 more
doaj   +2 more sources

Evaluation of microsatellite instability patterns in mismatch repair deficiency: a retrospective analysis of 285 endometrial cancers [PDF]

Frontiers in Immunology
ObjectiveIn this study, we systematically compared the microsatellite shift patterns detected by PCR-based microsatellite instability analysis (PCR-MSI) in mismatch repair (MMR)-deficient ECs and analyzed the clinicopathological features associated with ...
Cheng Wang, Cheng Wang, Min Feng, Min Feng, Yuling Kou, Yuling Kou, Wei Kuang, Wei Kuang, Wei Wang, Wei Wang, Dongni Liang, Dongni Liang   +11 more
doaj   +2 more sources

A simplified two-marker immunohistochemistry strategy for Lynch syndrome screening in endometrial cancer patients [PDF]

Obstetrics & Gynecology Science, 2023
Objective To examine the efficacy of MSH6 and PMS2 immunohistochemistry (IHC) as a screening method for Lynch syndrome in endometrial cancer patients.
Ala Aiob, Yeo Rae Kim, Kidong Kim, Hyojin Kim, Yong Beom Kim, Duck Woo Kim, Jae Hong No, Soo Hyun Seo, Dong Hoon Suh, Kyoung Un Park   +9 more
doaj   +1 more source

Hereditary ovarian cancer

Сибирский онкологический журнал, 2022
Background. Hereditary genetic mutations are a significant risk factor for malignant transformation of cells and cancer development. Hereditary genetic mutations account for 15 to 25 % of all ovarian carcinomas. Purpose of the study: to summarize data on
Kh. B. Kotiv, T. V. Gorodnova, A. P. Sokolenko, I. V. Berlev, E. N. Imyanitov   +4 more
doaj   +1 more source

Relationship between the expression of mismatch repair proteins and colorectal cancer with mesenteric tumor deposit

Zhongguo linchuang yanjiu, 2023
Objective To investigate the clinicopathological significance of colorectal cancer with mesenteric tumor deposit(TD) and the relationship with DNA mismatch repair(MMR) protein expression.
HUANG Ke-qiang, TANG Hua, HUANG Qiu-xia, OU Hai-ling
doaj   +1 more source

THE IMMUNOHISTOCHEMICAL EXPRESSIONS OF MISMATCH REPAIR GENES MLH1, PMS2, MSH6, MSH2 IN GASTRIC CANCER; A TISSUE MICROARRAY STUDY

Süleyman Demirel Üniversitesi Tıp Fakültesi Dergisi, 2021
ObjectiveWe aimed to evaluate the correlation between theimmunohistochemical expressions of MLH1, PMS2,MSH6, MSH2 and clinicopathological parameters ingastric carcinoma.Matherials and MethodsImmunohistochemistry was performed on the tissuemicroarray (TMA)
Gamze Erkılınç, Nermin Karahan, Şirin Başpınar, Zümrüt Arda Kaymak, Şehnaz Evrimler   +4 more
doaj   +1 more source

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

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   +1 more source

PMS2 Expression With Combination of PD-L1 and TILs for Predicting Survival of Esophageal Squamous Cell Carcinoma

Frontiers in Oncology, 2022
BackgroundDNA mismatch repair (MMR) deficiency (dMMR) has been recognized as an important biomarker for immunotherapy in esophageal squamous cell carcinoma (ESCC), along with programmed death ligand 1 (PD-L1) expression and/or tumor-infiltrated ...
Dongxian Jiang, Dongxian Jiang, Qi Song, Xiaojun Wei, Zixiang Yu, Yufeng Liu, Haixing Wang, Xingxing Wang, Jie Huang, Jieakesu Su, Yang Hong, Yifan Xu, Chen Xu, Yingyong Hou, Yingyong Hou   +14 more
doaj   +1 more source

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, 2022
Lynch syndrome (LS) is a cancer-predisposing genetic disease mediated by pathogenic mutations in DNA mismatch repair (MMR) genes MLH1, MSH2, MSH6, and PMS2.
Quanli Han, Si Liu, Zhi Cui, Qi Wang, Tonghui Ma, Liwen Jiang, Xiaomo Li, Guanghai Dai   +7 more
doaj   +1 more source