Results 61 to 70 of about 44,743 (233)

Dominant mutations in S. cerevisiae PMS1 identify the Mlh1-Pms1 endonuclease active site and an exonuclease 1-independent mismatch repair pathway. [PDF]

PLoS Genetics, 2013
Lynch syndrome (hereditary nonpolypsis colorectal cancer or HNPCC) is a common cancer predisposition syndrome. Predisposition to cancer in this syndrome results from increased accumulation of mutations due to defective mismatch repair (MMR) caused by a ...
Catherine E Smith, Marc L Mendillo, Nikki Bowen, Hans Hombauer, Christopher S Campbell, Arshad Desai, Christopher D Putnam, Richard D Kolodner   +7 more
doaj   +1 more source

Modulation of transcription factor binding and epigenetic regulation of the MLH1 CpG island and shore by polymorphism rs1800734 in colorectal cancer

Epigenetics, 2017
The MLH1 promoter polymorphism rs1800734 is associated with MLH1 CpG island hypermethylation and expression loss in colorectal cancer (CRC). Conversely, variant rs1800734 is associated with MLH1 shore, but not island, hypomethylation in peripheral blood ...
Andrea J. Savio, Bharati Bapat
doaj   +1 more source

Mismatch Repair Genes Mlh1 and Mlh3 Modify CAG Instability in Huntington's Disease Mice: Genome-Wide and Candidate Approaches [PDF]

, 2014
The Huntington's disease gene (HTT) CAG repeat mutation undergoes somatic expansion that correlates with pathogenesis. Modifiers of somatic expansion may therefore provide routes for therapies targeting the underlying mutation, an approach that is likely
Cohen, Paula E., Daly, Mark J., Dragileva, Ella, Gillis, Tammy, Guide, Jolene R., Holloway, Kim, Hou, Caixia, Kirby, Andrew, Li, Guo-Min, Lloret, Alejandro, Lopez, Edith, Panigrahi, Gagan B., Pearson, Christopher E., Pinto, Ricardo Mouro, St. Claire, Jason, Wheeler, Vanessa C.   +15 more
core   +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

MLH1 Gene Expression and Pathologic Factors in Iranian Patients with Colorectal Cancer

Majallah-i Dānishgāh-i ̒Ulūm-i Pizishkī-i Qum, 2020
Background and Objectives: MutL homolog (MLH1) is a key component of heterodimeric complex MutLα, which recognizes and repairs base-base mismatches or insertion/deletion loops that arise from nucleotide misincorporation.
Ahdieh Hosseini Anvari, Shahla Mohammad Ganji, Tahereh Ahdieh Hosseini Komeili Movahhed   +2 more
doaj  

MLH1 promoter methylation frequency in colorectal cancer patients and related clinicopathological and molecular features.

PLoS ONE, 2013
PurposeTo describe the frequency of MLH1 promoter methylation in colorectal cancer (CRC); to explore the associations between MLH1 promoter methylation and clinicopathological and molecular factors using a systematic review and meta-analysis.MethodsA ...
Xia Li, Xiaoping Yao, Yibaina Wang, Fulan Hu, Fan Wang, Liying Jiang, Yupeng Liu, Da Wang, Guizhi Sun, Yashuang Zhao   +9 more
doaj   +1 more source

Living at genetic risk: The patient experience of Lynch syndrome

International Journal of Cancer, EarlyView.
Abstract Lynch syndrome is a germline cancer predisposition syndrome caused by a variant in one of four genes. Lynch syndrome places individuals at significantly higher risk for a range of cancers, especially colorectal and endometrial. Depending on which gene is affected, the risk of ovarian, gastric, small bowel, pancreatic, biliary urothelial, brain,
Nicola Reents, Georgina Hoffmann, Kelly Kohut   +2 more
wiley   +1 more source

Lynch syndrome-associated endometrial carcinoma with MLH1 germline mutation and MLH1 promoter hypermethylation: a case report and literature review

BMC Cancer, 2018
Background Lynch syndrome is an autosomal dominant inherited disease caused by germline mutations in mismatch repair genes. Analysis for microsatellite instability (MSI) and immunohistochemistry (IHC) of protein expressions of disease-associated genes is
Takanori Yokoyama, Kazuhiro Takehara, Nao Sugimoto, Keika Kaneko, Etsuko Fujimoto, Mika Okazawa-Sakai, Shinichi Okame, Yuko Shiroyama, Takashi Yokoyama, Norihiro Teramoto, Shozo Ohsumi, Shinya Saito, Kazuho Imai, Kokichi Sugano   +13 more
doaj   +1 more source

CHARACTERISTICS OF INDIVIDUALS UNDERGOING PANEL GENETIC TESTING FOR PRIMARY BRAIN TUMORS [PDF]

, 2018
Background. Currently, there are no genetic testing guidelines for patients with a primary brain tumor (PBT). This population is largely understudied in terms of the family history, tumor grade, pathology, and their relation to genetic contribution.
Azam, Sarah
core   +1 more source

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