Caracterización molecular de las mutaciones presentes en los genes responsables del síndrome de Lynch

Caracterización molecular de las mutaciones presentes en los genes responsables del síndrome de Lynch

<p>Debido a la alta frecuencia del CCR (cáncer colorrectal) en menores de 40 años de nuestra población y sabiendo que su principal origen en jóvenes es genético, especialmente por el síndrome de Lynch,<br />la Universidad de Antioquia inició un programa multicéntrico en e...

Full description

Bibliographic Details
Main Authors:	Luis Isaza, Rodrigo Castaño, Adonis Ramírez, Jaime Escobar, William Sánchez, Carlos Martínez, Henry Ostos, Gabriel Bedoya Berrío, José Ramírez, Carlos Muñetón, Yenny Montenegro, Juan Márquez, Omar Hoyos
Format:	Article
Language:	Spanish
Published:	Universidad de Antioquia 2001-04-01
Series:	Iatreia
Subjects:	CÁNCER COLORRECTAL MLH1 MSH2 SÍNDROME DE LYNCH
Online Access:	http://www.iatreia.udea.edu.co/index.php/iatreia/article/view/1037

Similar Items

Lynch Syndrome Germline Mutations in Breast Cancer: Next Generation Sequencing Case-Control Study of 1,263 Participants
by: Aleksey G. Nikitin, et al.
Published: (2020-05-01)

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

Telomere Instability in Lynch Syndrome Families Leads to Some Shorter Telomeres in <i>MSH2+/-</i> Carriers
by: M. Carmen Garrido-Navas, et al.
Published: (2020-10-01)

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

Primary malignant pericardial tumour in Lynch syndrome
by: Pasquale Paolisso, et al.
Published: (2020-03-01)

The Prospective Lynch Syndrome Database reports enable evidence-based personal precision health care
by: Pål Møller
Published: (2020-03-01)

MLH1 germline mutation associated with Lynch syndrome in a family followed for more than 45 years
by: Tomoyuki Momma, et al.
Published: (2019-05-01)

Comportamiento del cáncer colorectal en pacientes menores de 40 años de dos Hospitales Universitarios en Medellín y Neiva entre 1980 y 2000
by: Luis Isaza, et al.
Published: (2001-04-01)

Some aspects of molecular diagnostics in Lynch syndrome
by: Kurzawski Grzegorz
Published: (2006-12-01)

Determining the functional significance of mismatch repair gene missense variants using biochemical and cellular assays
by: Heinen Christopher D, et al.
Published: (2012-07-01)

Detection of DNA mismatch repair proteins in fresh human blood lymphocytes - towards a novel method for hereditary non-polyposis colorectal cancer (Lynch syndrome) screening
by: Ali Nawab, et al.
Published: (2011-10-01)

Denaturierende Hochdruckflüssigkeits-Chromatographie (DHPLC) als Methode zur Mutationssuche in den Genen MLH1 und MSH2 bei Patienten mit hereditärem nicht-polypösem kolorektalem Karzinom (HNPCC).
by: Reiser, Juliana
Published: (2013)

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

Gastric-type adenocarcinoma of the cervix in a patient with Lynch syndrome: A case report
by: M. Moat, et al.
Published: (2014-12-01)

Thyroid cancer in a patient with a germline <it>MSH2 </it>mutation. Case report and review of the Lynch syndrome expanding tumour spectrum
by: Stulp Rein P, et al.
Published: (2008-02-01)

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

Novel germline <it>MSH2 </it>mutation in lynch syndrome patient surviving multiple cancers
by: Janavicius Ramunas, et al.
Published: (2012-01-01)

IMMUNOHISTOCHEMICAL STUDY OF MSH2, MSH6, PMS2, MLH1 IN EVALUATION OF DIFFERENTIATION GRADE OF COLON ADENOCARCINOMA
by: G. A. Raskin, et al.
Published: (2016-02-01)

FROM FAMILIES SYNDROMES TO GENES… THE FIRST CLINICAL AND GENETIC CHARACTERIZATIONS OF HEREDITARY SYNDROMES PREDISPOSING TO CANCER: WHAT WAS THE BEGINNING?
by: Charité Ricker, MS, LCGC
Published: (2017-07-01)

Investigation of APC, MLH1 and MSH2 Mutations in Patients with Hereditary Colorectal Carcinoma: A Single Center Experience
by: Mehmet Buğrahan Düz
Published: (2021-01-01)

IDH1 mutated low grade astrocytoma occurring in MSH2 mutated Lynch syndrome family
by: Alaa Alkhotani, et al.
Published: (2016-12-01)

No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in <i>MLH1</i> and <i>MSH2</i>: A Prospective Lynch Syndrome Database Study
by: Mev Dominguez-Valentin, et al.
Published: (2021-06-01)

Mismatch repair protein deficient endometrioid adenocarcinomas, metastasizing to adrenal gland and lymph nodes: Unusual cases with diagnostic implications
by: Bharat Rekhi
Published: (2015-01-01)

A Hereditable Mutation of MSH2 Gene Associated with Lynch Syndrome in a Five Generation Chinese Family
by: Shao WH, et al.
Published: (2020-02-01)

A modified screening strategy for Lynch syndrome among MLH1-deficient CRCs: Analysis from consecutive Chinese patients in a single center
by: Wenmiao Wang, et al.
Published: (2021-05-01)

A novel germline mutation in hMLH1 in three Korean women with endometrial cancer in a family of Lynch syndrome: case report and literature review
by: Youn-Joon Jung, et al.
Published: (2021-06-01)

Genetic and epidemiological studies of hereditary colorectal cancer
by: Cederquist, Kristina
Published: (2005)

Diagnosis of Lynch Syndrome and Strategies to Distinguish Lynch-Related Tumors from Sporadic MSI/dMMR Tumors
by: Julie Leclerc, et al.
Published: (2021-01-01)

Novel MSH2 Mutation in the First Report of a Vietnamese–American Kindred with Lynch Syndrome
by: Ramez N. Eskander, et al.
Published: (2015-04-01)

Overexpression of MutL homolog 1 and MutS homolog 2 proteins have reversed prognostic implications for stage I–II colon cancer patients
by: Shih-Chiang Huang, et al.
Published: (2017-02-01)

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

MiR-137 Targets the 3′ Untranslated Region of <i>MSH2</i>: Potential Implications in Lynch Syndrome-Related Colorectal Cancer
by: Raffaella Liccardo, et al.
Published: (2021-09-01)

A possible association between mycosis fungoides and Muir-Torre syndrome: Two disorders with microsatellite instability
by: Daniel J. Lewis, BA, et al.
Published: (2017-07-01)

Cigarette Smoke Induces Colorectal Carcinogenesis in Wistar Rats by Decreasing The Expression of APC, MSH2 and MLH1
by: Dody Novrial, et al.
Published: (2017-04-01)

A new mutL homolog 1 c.1896+5G>A germline mutation detected in a Lynch syndrome‐associated lung and gastric double primary cancer patient
by: Xuyuan Chen, et al.
Published: (2019-08-01)

A Novel Splice-Site Mutation in MSH2 Is Associated With the Development of Lynch Syndrome
by: Juyi Li, et al.
Published: (2020-06-01)

Estudo de associação dos SNPS dos genes MLH1 e MSH2 à susceptibilidade ao desenvolvimento do carcinoma basocelular no Estado da Paraíba
by: Calixto, Poliane da Silva
Published: (2018)

The Crusade Against Lynching
by: Hall, Elizabeth Jane
Published: (1975)

Papillary Renal Cell Carcinoma in Lynch/Muir-Torre Syndrome with Germline Pathogenic Variant in MSH6 and Molecular Analysis
by: Yu Yang, et al.
Published: (2021-04-01)

Frequent Novel Variations Within MSH2 and MLH1 Genes in a Subset of Iranian Families With Hereditary Non-Polyposis Colorectal Cancer
by: Shadi Javan, et al.
Published: (2019-05-01)

Cannot write session to /tmp/vufind_sessions/sess_o65lfh1i6g3g775c1d3i8no9is