Buscar
Mostrando ítems 1-10 de 180
Prevalência de critérios clínicos para síndrome de Lynch em pacientes com diagnóstico de cancer colorretal atendidos no HUSM
(Universidade Federal de Santa MariaBrasilMedicinaUFSMPrograma de Pós-Graduação em Ciências da SaúdeCentro de Ciências da Saúde, 2018-03-29)
Lynch Syndrome (SL) is responsible for 3 to 5% of colorectal cancer diagnoses. This syndrome of predisposition to cancer presents autosomal dominant inheritance and it is caused by deleterious germline mutations in genes ...
Spectrum of MLH1 and MSH2 mutations in Chilean Families with suspected Lynch syndrome
(2010)
PURPOSE: Lynch syndrome is the most common inherited syndrome of colorectal cancer, caused principally by germline mutations in MLH1 and MSH2. We report our experience with genetic screening in the diagnosis of Lynch ...
Molecular diagnosis of hereditary nonpolyposis colorectal cancer (Lynch syndrome)
(Universidad Nacional de Colombia - Sede Bogotá - Facultad de Medicina, 2016-07-01)
Lynch syndrome is the most common cause of inherited colorectal cancer, totaling 5 to 8% of all the cases with high susceptibility to this type of cancer and extracolonic cancer. It is related to germinal mutations taking ...
Mutación fundadora en síndrome de Lynch tipo IIFounder mutation in Lynch syndrome
(Fundación Revista Medicina, 2016-03)
El síndrome de Lynch es la más frecuente de las neoplasias colorrectales hereditarias. Se origina por mutaciones germinales deletéreas familia-específicas en los genes que codifican proteínas de reparación del ADN: MLH1 ...
Evaluation of MLH1 I219V Polymorphism in Unrelated South American Individuals Suspected of Having Lynch Syndrome
(INT INST ANTICANCER RESEARCHATHENS, 2012)
Background: Some single-nucleotide polymorphisms are associated with higher risk of colorectal cancer development and are suggested to explain part of the genetic contribution to Lynch syndrome. Aim: To evaluate the mutL ...
Cáncer colorrectal hereditario no asociado a poliposis o síndrome de Lynch
Hereditary nonpolyposis colorectal cancer, also known as Lynch syndrome is recognized as an autosomal dominant hereditary syndrome of incomplete penetrance characterized by mutations in DNA repair genes. It is the most ...
Pitfalls in the diagnosis of biallelic PMS2 mutations
(Springer, 2015-09)
Constitutional Mismatch Repair Deficiency (CMMR-D) syndrome is an inherited childhood cancer syndrome due to bi-allelic mutations in one of the four DNA mismatch repair genes involved in Lynch syndrome. The tumor spectrum ...
Spectrum of mlh1 and msh2 mutations in chilean families with suspected lynch syndrome
(LIPPINCOTT WILLIAMS & WILKINS, 2010)
Telomere Instability in Lynch Syndrome Families Leads to Some Shorter Telomeres in MSH2+/- Carriers
Lynch syndrome (LS) is an inherited predisposition to early onset of various cancers, caused by mutation in a DNA mismatch repair (MMR) gene. In heterozygous MMR+/- carriers, somatic mutation, loss or silencing of the wild ...
Spectrum and Frequency of Tumors, Cancer Risk and Survival in Chilean Families with Lynch Syndrome: Experience of the Implementation of a Registry
(MDPI, 2020)
Lynch syndrome (LS) is associated with the highest risk of colorectal (CRC) and several
extracolonic cancers. In our e ort to characterize LS families from Latin America, this study aimed
to describe the spectrum of ...