Results 41 to 50 of about 5,198 (143)

Targeting mitochondrial DNA polymerase gamma for selective inhibition of MLH1 deficient colon cancer growth.

PLoS ONE, 2022
Synthetic lethality in DNA repair pathways is an important strategy for the selective treatment of cancer cells without harming healthy cells and developing cancer-specific drugs. The synthetic lethal interaction between the mismatch repair (MMR) protein,
Berna Somuncu, Aysegul Ekmekcioglu, Fatma Merve Antmen, Tugce Ertuzun, Emre Deniz, Nazli Keskin, Joon Park, Ilgu Ece Yazici, Busra Simsek, Batu Erman, Whitney Yin, Burak Erman, Meltem Muftuoglu   +12 more
doaj   +3 more sources

Predictive models for mutations in mismatch repair genes: implication for genetic counseling in developing countries

BMC Cancer, 2012
Background Lynch syndrome (LS) is the most common form of inherited predisposition to colorectal cancer (CRC), accounting for 2-5% of all CRC. LS is an autosomal dominant disease characterized by mutations in the mismatch repair genes mutL homolog 1 ...
Monteiro Santos Erika, Valentin Mev, Carneiro Felipe, de Oliveira Ligia, de Oliveira Ferreira Fabio, Junior Samuel, Nakagawa Wilson, Gomy Israel, de Faria Ferraz Victor, da Silva Junior Wilson, Carraro Dirce, Rossi Benedito   +11 more
doaj   +1 more source

Expression of Concern: Inactivation of human mutL homolog 1 and mutS homolog 2 genes in head and neck squamous cell carcinoma tumors and leukoplakia samples by promoter hypermethylation and its relation with microsatellite instability phenotype [PDF]

Cancer, 2007
AbstractBACKGROUND.A subset of head and neck squamous cell carcinoma (HNSCC) exhibits a microsatellite instability (MIN) phenotype. The authors correlated alterations in the mismatch‐repair genes human mutL homolog 1 (hMLH1) and human mutS homolog 2 (hMSH2) in primary head and neck squamous cell carcinoma (HNSCC) tumors and in samples of leukoplakia ...
Shiladitya, Sengupta, Susmita, Chakrabarti, Anup, Roy, Chinmay K, Panda, Susanta, Roychoudhury   +4 more
openaire   +2 more sources

Werner Syndrome Helicase Is Required for the Survival of Cancer Cells with Microsatellite Instability

iScience, 2019
Summary: Werner syndrome protein (WRN) is a RecQ enzyme involved in the maintenance of genome integrity. Germline loss-of-function mutations in WRN led to premature aging and predisposition to cancer.
Lorn Kategaya, Senthil K. Perumal, Jeffrey H. Hager, Lisa D. Belmont   +3 more
doaj   +1 more source

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics

International Journal of Cancer, EarlyView.
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer, Morghan C. Lucas, Vitus Prokosch, Thomas Keßler, Thomas Risch, Andreas Laner, Jan Henkel, Anna Benet‐Pagès, Ariane Hallermayr, Verena Steinke‐Lange, Elke Holinski‐Feder, Barbara Klink   +11 more
wiley   +1 more source

Identification of a mutL‑homolog 1 mutation via whole‑exome sequencing in a Chinese family with Gardner syndrome

Molecular Medicine Reports, 2018
Gardner syndrome (GS), a variant of familial adenomatous polyposis, is a rare genetic disorder with autosomal dominant inheritance, characterized by the presence of multiple intestinal polyps, multiple osteomas, dental abnormalities and soft tissue tumors. To date, only a few gene mutations have been demonstrated to be responsible for GS.
Zilan, Lv, Chuan, Wang, Lixiang, Wu, Bianqin, Guo, Darong, Zhang, Yang, Zhang, Shengxing, Huang, Minglin, Ou   +7 more
openaire   +3 more sources

Methylation of estrogen receptor α and mutL homolog 1 in normal colonic mucosa: association with folate and vitamin B-12 status in subjects with and without colorectal neoplasia [PDF]

The American Journal of Clinical Nutrition, 2007
Greater promoter methylation in some tumor-suppressor genes underlies most sporadic colorectal cancers and increases with age in the colon.We tested the hypothesis that biomarkers of folate and vitamin B-12 status are associated with estrogen receptor alpha (ERalpha) and mutL homolog 1 (MLH1) promoter methylation in subjects with and without neoplasia ...
Abbadi, Reyad Al-Ghnaniem, Peters, Jennifer, Foresti, Roberta, Heaton, Nigel, Pufulete, Maria M   +4 more
openaire   +2 more sources

A multilevel perspective on MSH6‐associated Lynch syndrome: Integrating molecular, biological, and clinical insights

International Journal of Cancer, EarlyView.
Abstract Lynch syndrome (LS) is the most common hereditary colorectal cancer syndrome, caused by a germline pathogenic variant in one of the mismatch repair (MMR) genes. Among these, MSH6‐associated LS represents a distinct subtype with unique molecular and clinical characteristics.
Salwa Ben Yahia, Anne‐Sophie van der Werf‐'t Lam, Madalina Cabuta, Maartje Nielsen, Noah C. Helderman   +4 more
wiley   +1 more source

Exome Sequencing Identifies Variants in MLH1 and ERBB2 as Potential Cancer‐Predisposing Factors in Familial Early‐Onset Colorectal Cancer

The Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT Colorectal cancer (CRC) has raised considerable health concerns worldwide, with increasing incidence rates, specifically among younger populations. Despite remarkable progress in diagnosing and treating various diseases, the genetic basis of CRC remains only partially understood.
Behnaz Bagheri, Neda Mohsen‐Pour, Najmeh Salehi, Pardis Ketabi Moghadam, Adel Zeinalpour, Amir Sadeghi, Samira Kalayinia, Nayeralsadat Fatemi   +7 more
wiley   +1 more source

Comparison of screening strategies for Lynch syndrome in patients with newly diagnosed endometrial cancer: a prospective cohort study in China

Cancer Communications, 2019
Background The prevalence of Lynch syndrome and screening strategies for this disorder in Chinese patients with endometrial cancer have seldom been investigated.
Xiaopei Chao, Lei Li, Ming Wu, Shuiqing Ma, Xianjie Tan, Sen Zhong, Yalan Bi, Jinghe Lang   +7 more
doaj   +1 more source