Deciding the operation type according to mismatch repair status among hereditary nonpolyposis colorectal cancer patients: should a tailored approach be applied, or does one size fit all? [PDF]
Hered Cancer Clin Pract, 2021 Liao CK +5 more
europepmc +1 more source
Founder mutation in Lynch syndrome [PDF]
, 2016 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 (homólogo humano de mutL), MSH2 y ...
Cajal, Andrea +7 more
core
Case analysis : Ethical issues in predictive genetic testing of minors for adult-onset hereditary conditions [PDF]
, 2015 Introduction: Predictive genetic testing for adult-onset conditions in children is an issue that has initiated ethical discussions and polarized views. Case Presentation: A genetic counselor is contacted by a mother requesting predictive genetic testing ...
Brandt, Lea +3 more
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Construction of Fluorescently-Tagged and Adenosine Nucleotide-Binding Mutations of the Human MutS Homolog Heterodimer MSH2-MSH3 [PDF]
, 2009 DNA mismatch repair (MMR) is a highly conserved system for correcting mispaired nucleotides arising from misincorporation errors during DNA replication, genetic recombination, and chemical or physical damage.
Cook, Christopher Paul
core
Refining Risk Estimates in Hereditary Nonpolyposis Colorectal Cancer: Are We There Yet? [PDF]
JNCI Cancer Spectr, 2020 Lynch PM, Pande M.
europepmc +1 more source
Dominantly Inherited Hereditary Nonpolyposis Colorectal Cancer Not Caused by MMR Genes. [PDF]
J Clin Med, 2020 Terradas M, Capellá G, Valle L.
europepmc +1 more source
European Medical Journal, 2019 Primary cardiac tumours are exceedingly unusual and aggressive; they often develop in younger patients and present with advanced disease. The rarity and heterogeneity of primary cardiac tumours challenge the standardisation of therapeutic guidelines ...
Emily Bryer, Lee Hartner
doaj
GENETIC COUNSELOR UTILIZATION AND INTERPRETATION OF SOMATIC TUMOR TESTING IN EVALUATION FOR LYNCH SYNDROME [PDF]
, 2019 Lynch syndrome (LS) is a hereditary cancer predisposition syndrome characterized by increased risk for colorectal and uterine cancers. Individuals with pathogenic variants in the mismatch repair (MMR) genes (MLH1, MSH2/EPCAM, MSH6, PMS2) are diagnosed ...
Williams, Danielle
core +1 more source
Decision analysis in the surgical treatment of colorectal cancer due to a mismatch repair detect. [PDF]
, 2003 Buskens, E. +9 more
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Hereditary Nonpolyposis Colorectal Carcinoma: Cancer Family Syndrome
Annals of Medicine, 1989 During the past 20 years details of hundreds of families with aggregation of nonpolyposis colorectal carcinoma (CRC) have been published. High frequency of CRC and some other adenocarcinomas with early age of onset, with common multiplicity and with dominant mode of genetic transmission are characteristic for this inherited disorder originally called ...
openaire +2 more sources