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....

書目詳細資料
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
格式:	Journal article
語言:	English
出版:	2011

相似書籍

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Experimental exchange of paralogous domains in the MLH family provides evidence of sub-functionalization after gene duplication
由: Christopher M Furman, et al.
出版: (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
由: Karam Khaddour, et al.
出版: (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
由: Mylonaki Maria, et al.
出版: (2010-10-01)

A novel pathogenic <it>MLH1 </it>missense mutation, c.112A > C, p.Asn38His, in six families with Lynch syndrome
由: van Riel Els, et al.
出版: (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.
由: Abram Bunya Kamiza, et al.
出版: (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
由: Juan M. Marqués-Lespier, et al.
出版: (2014-01-01)

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

The MLH1 c.1852_1853delinsGC (p.K618A) variant in colorectal cancer: genetic association study in 18,723 individuals.
由: Anna Abulí, et al.
出版: (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
由: Yi-Ching Huang, et al.
出版: (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?
由: Wei Jiang, et al.
出版: (2019-05-01)

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

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

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

<it>MSH2 </it>and <it>MLH1 </it>testing
由: Kurzawski Grzegorz, et al.
出版: (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
由: Hudler Petra, et al.
出版: (2009-10-01)

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