Novel MLH1 duplication identified in Colombian families with Lynch syndrome

Novel MLH1 duplication identified in Colombian families with Lynch syndrome

Show other versions (1)

Purpose: Lynch syndrome accounts for 2-4% of all colorectal cancer, and is mainly caused by germline mutations in the DNA mismatch repair genes. Our aim was to characterize the genetic mutation responsible for Lynch syndrome in an extensive Colombian family and to study its prevalence in Antioquia....

Bibliografske podrobnosti
Main Authors:	Alonso-Espinaco, V, Giráldez, MD, Trujillo, C, Van Der Klift, H, Muñoz, J, Balaguer, F, Ocaña, T, Madrigal, I, Jones, A, Echeverry, M, Velez, A, Tomlinson, I, Milà, M, Wijnen, J, Carvajal-Carmona, L, Castells, A, Castellví-Bel, S
Format:	Journal article
Jezik:	English
Izdano:	2011

Podobne knjige/članki

Novel MLH1 duplication identified in Colombian families with Lynch syndrome.
od: Alonso-Espinaco, V, et al.
Izdano: (2011)

A rare large duplication of MLH1 identified in Lynch syndrome
od: Abhishek Kumar, et al.
Izdano: (2021-01-01)

Novel Mutations in MLH1 and MSH2 Genes in Mexican Patients with Lynch Syndrome
od: Jose Miguel Moreno-Ortiz, et al.
Izdano: (2016-01-01)

Novel MLH1 nonsense variant in a patient with suspected Lynch syndrome
od: Nobue Takaiso, et al.
Izdano: (2024-09-01)

Novel germline mutations in MLH1 and PMS2 in familial Lynch syndrome
od: Yuhan Cai, et al.
Izdano: (2022-06-01)

A Chinese family affected by lynch syndrome caused by MLH1 mutation
od: Shuqin Jia, et al.
Izdano: (2018-06-01)

Lynch syndrome-associated endometrial carcinoma with MLH1 germline mutation and MLH1 promoter hypermethylation: a case report and literature review
od: Takanori Yokoyama, et al.
Izdano: (2018-05-01)

Genome sequencing identifies complex structural MLH1 variant in unsolved Lynch syndrome
od: Dennis Witt, et al.
Izdano: (2023-06-01)

MLH1 Ile219Val polymorphism in Argentinean families with suspected Lynch syndrome
od: Mev Dominguez-Valentin, et al.
Izdano: (2016-08-01)

Discordant immunohistochemistry in an unusual MLH1 gene variant in a case of Lynch syndrome
od: Prerana Nagabhushana, et al.
Izdano: (2021-08-01)

Evidence for classification of c.1852_1853AA>GC in MLH1 as a neutral variant for Lynch syndrome
od: Llor Xavier, et al.
Izdano: (2011-01-01)

Rare single‐nucleotide variants of MLH1 and MSH2 genes in patients with Lynch syndrome
od: Seyed Mohsen Mirabdolhosseini, et al.
Izdano: (2024-01-01)

Computational and cellular studies reveal structural destabilization and degradation of MLH1 variants in Lynch syndrome
od: Amanda B Abildgaard, et al.
Izdano: (2019-11-01)

Somatic mosaicism by a de novo MLH1 mutation as a cause of Lynch syndrome
od: Willemina R. Geurts‐Giele, et al.
Izdano: (2019-07-01)

Insertion of an Alu‐like element in MLH1 intron 7 as a novel cause of Lynch syndrome
od: Yirong Li, et al.
Izdano: (2020-12-01)

Whole-exome sequencing identified a novel mutation of MLH1 in an extended family with lynch syndrome
od: Hamid Ghaedi, et al.
Izdano: (2020-12-01)

P048: Novel frameshift MLH1 germline mutation in a Moroccan Lynch syndrome family
od: Abdelhamid Bouramtane, et al.
Izdano: (2023-01-01)

Germline structural variant as the cause of Lynch Syndrome in a family from Ecuador
od: Gemma Llargués-Sistac, et al.
Izdano: (2025-01-01)

MLH1 c.199G>A, a Known Mutation for Lynch Syndrome, Is Also Associated with Sebaceous Neoplasm
od: Wei-Sheng Li, et al.
Izdano: (2021-06-01)

Germline biallelic Mcm8 variants are associated with early-onset Lynch-like syndrome
od: Mariano Golubicki, et al.
Izdano: (2020-09-01)

Identification of new genetic alterations in MLH1, MSH2 and MSH6 using IHC and HRM analysis in Lynch syndrome-suspected patients
od: Mazurek A, et al.
Izdano: (2012-04-01)

Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a Prospective Lynch Syndrome Database report
od: Toni Seppälä, et al.
Izdano: (2017-10-01)

Identification of a novel pathogenic MLH1 mutation and recommended genetic screening strategy: An investigation of three Chinese Lynch syndrome pedigrees
od: Fan Li, et al.
Izdano: (2020-08-01)

Germline MLH1, MSH2 and MSH6 variants in Brazilian patients with colorectal cancer and clinical features suggestive of Lynch Syndrome
od: Nayê Balzan Schneider, et al.
Izdano: (2018-05-01)

Experimental exchange of paralogous domains in the MLH family provides evidence of sub-functionalization after gene duplication
od: Christopher M Furman, et al.
Izdano: (2021-04-01)

Metachronous cutaneous squamous cell carcinoma in a young patient as the only presenting symptom to uncover Lynch syndrome with MLH1 Germline mutation
od: Karam Khaddour, et al.
Izdano: (2020-11-01)

Screening of the DNA mismatch repair genes <it>MLH1</it>, <it>MSH2 </it>and <it>MSH6 </it>in a Greek cohort of Lynch syndrome suspected families
od: Mylonaki Maria, et al.
Izdano: (2010-10-01)

A novel pathogenic <it>MLH1 </it>missense mutation, c.112A > C, p.Asn38His, in six families with Lynch syndrome
od: van Riel Els, et al.
Izdano: (2010-08-01)

Risk Factors Associated with Colorectal Cancer in a Subset of Patients with Mutations in MLH1 and MSH2 in Taiwan Fulfilling the Amsterdam II Criteria for Lynch Syndrome.
od: Abram Bunya Kamiza, et al.
Izdano: (2015-01-01)

Report of a Novel Mutation in MLH1 Gene in a Hispanic Family from Puerto Rico Fulfilling Classic Amsterdam Criteria for Lynch Syndrome
od: Juan M. Marqués-Lespier, et al.
Izdano: (2014-01-01)

Two novel LKB1 mutations in Colombian Peutz-Jeghers syndrome patients.
od: Vélez, A, et al.
Izdano: (2009)

The MLH1 c.1852_1853delinsGC (p.K618A) variant in colorectal cancer: genetic association study in 18,723 individuals.
od: Anna Abulí, et al.
Izdano: (2014-01-01)

Germline MLH1 and MSH6 mutations from two Lynch syndrome families identified in a patient with early-onset of endometrial cancer: A case report
od: Yi-Ching Huang, et al.
Izdano: (2024-06-01)

Endometrioid endometrial cancer “recurring” as high-grade serous adenocarcinoma in the inguinal lymph nodes in a patient with germline MLH1 mutated Lynch syndrome: consequence or coincidence?
od: Wei Jiang, et al.
Izdano: (2019-05-01)

Allele loss occurs frequently at hMLH1, but rarely at hMSH2, in sporadic colorectal cancers with microsatellite instability.
od: Tomlinson, I, et al.
Izdano: (1996)

MLH1 germline epimutations as a factor in hereditary nonpolyposis colorectal cancer.
od: Hitchins, M, et al.
Izdano: (2005)

The mismatch repair and meiotic recombination endonuclease Mlh1-Mlh3 is activated by polymer formation and can cleave DNA substrates in trans.
od: Carol M Manhart, et al.
Izdano: (2017-04-01)

<it>MSH2 </it>and <it>MLH1 </it>testing
od: Kurzawski Grzegorz, et al.
Izdano: (2008-06-01)

Assessing pathogenicity of <it>MLH1 </it>variants by co-expression of human <it>MLH1 </it>and <it>PMS2 </it>genes in yeast
od: Hudler Petra, et al.
Izdano: (2009-10-01)

Diagnosis of patients with Lynch syndrome lacking the Amsterdam II or Bethesda criteria
od: Miguel Angel Trujillo-Rojas, et al.
Izdano: (2023-10-01)