Results 111 to 120 of about 33,127 (201)

Functional analysis of the p.Leu676Pro missense MLH1 variant.

, 2015
(A) Functional domains of the MLH1 protein. The new missense alteration is located in the PMS2 interaction domain. The amino acid conservation across species is presented.
Rafael Canfield Brianese (803447), Dirce Maria Carraro (216516), José Roberto de Oliveira Ferreira (803442), Benedito Mauro Rossi (803451), Érika Maria Monteiro Santos (803445), Fábio de Oliveira Ferreira (803452), Márcia Cristina Pena Figueiredo (803444), Ligia Petrolini de Oliveira (803448), Felipe Carneiro da Silva (803441), Giovana Tardin Torrezan (803443), Maria Dirlei Begnani (803449), Wilson Toshihiko Nakagawa (803446), Samuel Aguiar-Junior (803450)   +12 more
core   +1 more source

Clinical Benefit of Pembrolizumab in Lynch Syndrome‐Associated Advanced Ovarian Cancer With Germline MSH6 Variant: A Case Report

Clinical Case Reports, Volume 14, Issue 9, September 2026.
ABSTRACT This case highlights the importance of genetic evaluation during treatment in young patients with advanced ovarian cancer. Lynch syndrome caused by a germline MSH6 pathogenic variant was diagnosed during first‐line maintenance therapy, and pembrolizumab achieved a durable response in recurrent disease.
Tomomi Yokozawa, Sayako Nakagawa, Yukio Suzuki, Aya Tokinaga‐Uchiyama, Katsuyuki Konnai, Hiroto Narimatsu, Yukihiko Hiroshima, Haruya Saji   +7 more
wiley   +1 more source

Aberrant cytoplasmic localization of MLH1 characterizes a cell population that seeds breast cancer recurrence

Nature Communications
Estrogen receptor-positive breast cancer remains a leading cause of cancer-related death in women, with mortality largely driven by late recurrence of treatment-resistant disease.
Aloran Mazumder, Jerry Dewitt, Elena Oropeza, Nindo Punturi, Daniel Lozano, Megha Raghunathan, Jonathan Piscitelli, Elham Sajjadi, Elena GueriniRocco, Konstantinos Venetis, Mariia Ivanova, Eltjona Mane, Marianna Dercole, Alberto Concardi, Nicola Fusco, Carol Manhart, Matthew Bainbridge, Svasti Haricharan   +17 more
doaj   +1 more source

MLH1 constitutional and somatic methylation in patients with MLH1 negative tumors fulfilling the revised Bethesda criteria

, 2014
Lynch syndrome (LS) is a tumor predisposing condition caused by constitutional defects in genes coding for components of the mismatch repair (MMR) apparatus.
Giunti L, Ponz de Leon M, Civitelli S, TRICARICO, ROSSELLA, Gorelli G, Pedroni M, Crucianelli F1, GENSINI, FRANCESCA, SESTINI, ROBERTA, Turchetti D, GENUARDI, MAURIZIO   +10 more
core  

Differential cellular responses to prolonged LDR-IR in MLH1-proficient and MLH1-deficient colorectal cancer HCT116 cells

, 2009
Purpose: MLH1 is a key DNA mismatch repair (MMR) protein involved in maintaining genomic stability by participating in the repair of endogenous and exogenous mispairs in the daughter strands during S phase.
Seo, Yuji, Kinsella, Timothy J., Yang, Tao (R15422)   +2 more
core   +1 more source

Sintilimab Combined With Albumin‐Bound Paclitaxel and SOX Regimen as Conversion Therapy for Unresectable Advanced Gastric Cancer Achieving Complete Remission: A Case Report and Literature Review

Clinical Case Reports, Volume 14, Issue 9, September 2026.
ABSTRACT For carefully selected patients with unresectable advanced gastric cancer, immunochemotherapy combining PD‐1 inhibitor with albumin‐bound paclitaxel and S‐1/oxaliplatin may achieve deep remission and enable successful R0 resection. Our findings suggest that this multimodal conversion approach could be considered in selected cases with ...
Yufan Tang, Boquan Zhou, Bingbing Wen, Ke Yu, Jiajia Jia, Ying Sha, Jixiang Liu, Luyao Li, Ruifang Fan   +8 more
wiley   +1 more source

Anticipation in families with MLH1-associated Lynch syndrome [PDF]

Background: Lynch syndrome (LS) is an autosomal-dominant, hereditary cancer predisposition syndrome caused by pathogenic variants (PVs) in one of the mismatch-repair genes MLH1, MSH2/EPCAM, MSH6, or PMS2.
Pandey, Arti S., Postula, Kristen, Drogan, Christine, Kupfer, Sonia S., Huo, Dezheng, Garg, Shreshtha M.   +5 more
core   +1 more source

The MLH1-93 promoter variant influences gene expression [PDF]

, 2010
The −93 SNP of MLH1 gene is associated with MLH1 gene methylation in endometrial and colorectal cancers. We undertook luciferase reporter assay and electrophoretic mobility shift assay (EMSA) to test whether the −93 SNP affects the MLH1 gene expression ...
Shuo Dong, Manxue Mei, Sigurður Ingvarsson 1956-, Huiping Chen, 1965-, Goodfellow, Paul J., Dong Liu   +5 more
core   +1 more source

Expression and prognostic significance of MLH1 and GPRC5C in resectable hepatocellular carcinoma

BMC Cancer
Background It has recently been shown that mut-L homolog 1 (MLH1), frequently lost in cancer initiation and progression, inhibited pancreatic cancer metastatic potential by downregulating G-protein coupled receptor C5C (GPRC5C). However, their expression
Jun Lu, Lei Li, Qing Chen, Bingqi Li, Siqian Ren, Meng Yuan, Meng Meng, Jian Lei, Yuntao Bing, Hangyan Wang, Zhaolai Ma, Dianrong Xiu, Chunhui Yuan   +12 more
doaj   +1 more source

Inter-strain variation in mean MLH1 values.

, 2014
(A) Pachytene cell from B6 male immunostained with antibodies to MLH1 (green) and SYCP3 (red). The number of MLH1 foci per cell were counted and used as a surrogate for meiotic recombination events. (B) The mean number of MLH1 foci per spermatocyte for 5
Brian Baier (517434), Karl W. Broman (80214), Patricia Hunt (284358), Terry Hassold (235698)   +3 more
core   +1 more source