Mismatch Repair Gene Deficiency and Genetic Anticipation in Lynch Syndrome

2015 ◽  
Vol 58 (1) ◽  
pp. 141-142 ◽  
Author(s):  
Giovanni Ponti ◽  
Cristel Ruini ◽  
Aldo Tomasi
Keyword(s):  
Lynch Syndrome ◽  
Mismatch Repair ◽  
Mismatch Repair Gene ◽  
Repair Gene ◽  
Genetic Anticipation ◽  
Gene Deficiency

scholarly journals Improving Lynch Syndrome Diagnostics by Multiplex Snapshot Assays for the Detection of Mismatch Repair Gene LOH in MSI-H Tumors

2011 ◽  
Vol 140 (5) ◽  
pp. S-96
Author(s):  
Celine H. Leenen ◽  
Ina R. Geurts-Giele ◽  
Erik Jan Dubbink ◽  
Ernst J. Kuipers ◽  
Monique van Leerdam ◽  
...  
Keyword(s):  
Lynch Syndrome ◽  
Mismatch Repair ◽  
Mismatch Repair Gene ◽  
Repair Gene

scholarly journals Understanding the Pathogenicity of Noncoding Mismatch Repair Gene Promoter Variants in Lynch Syndrome

2016 ◽  
Vol 37 (5) ◽  
pp. 417-426 ◽  
Author(s):  
Qing Liu ◽  
Bryony A. Thompson ◽  
Robyn L. Ward ◽  
Luke B. Hesson ◽  
Mathew A. Sloane
Keyword(s):  
Lynch Syndrome ◽  
Mismatch Repair ◽  
Gene Promoter ◽  
Mismatch Repair Gene ◽  
Repair Gene

Pathological assessment of mismatch repair gene variants in Lynch syndrome: Past, present, and future

2012 ◽  
Vol 33 (12) ◽  
pp. 1617-1625 ◽  
Author(s):  
Lene Juel Rasmussen ◽  
Christopher D. Heinen ◽  
Brigitte Royer-Pokora ◽  
Mark Drost ◽  
Sean Tavtigian ◽  
...  
Keyword(s):  
Lynch Syndrome ◽  
Mismatch Repair ◽  
Mismatch Repair Gene ◽  
Gene Variants ◽  
Repair Gene ◽  
Pathological Assessment

scholarly journals Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome

2017 ◽  
Vol 212-213 ◽  
pp. 1-7 ◽  
Author(s):  
Annette Y. Sunga ◽  
Charité Ricker ◽  
Carin R. Espenschied ◽  
Danielle Castillo ◽  
Marilena Melas ◽  
...  
Keyword(s):  
Lynch Syndrome ◽  
Mismatch Repair ◽  
Clinical Presentation ◽  
Gene Mutations ◽  
Mismatch Repair Gene ◽  
Repair Gene ◽  
Mismatch Repair Gene Mutations

MISMATCH REPAIR GENE VARIATION IN A COHORT OF IRISH LYNCH SYNDROME PATIENTS

2020 ◽  
Author(s):  
T Ryan ◽  
S Foy ◽  
J Leyden ◽  
P MacMathuna ◽  
N Mehigan Farrelly ◽  
...  
Keyword(s):  
Lynch Syndrome ◽  
Mismatch Repair ◽  
Mismatch Repair Gene ◽  
Repair Gene ◽  
Gene Variation

scholarly journals Cancer spectrum in DNA mismatch repair gene mutation carriers: results from a hospital based Lynch syndrome registry

2012 ◽  
Vol 11 (3) ◽  
pp. 441-447 ◽  
Author(s):  
Mala Pande ◽  
Chongjuan Wei ◽  
Jinyun Chen ◽  
Christopher I. Amos ◽  
Patrick M. Lynch ◽  
...  
Keyword(s):  
Lynch Syndrome ◽  
Mismatch Repair ◽  
Gene Mutation ◽  
Dna Mismatch Repair ◽  
Mismatch Repair Gene ◽  
Repair Gene ◽  
Dna Mismatch ◽  
Mutation Carriers ◽  
Dna Mismatch Repair Gene

scholarly journals Double somatic mismatch repair gene pathogenic variants as common as Lynch syndrome among endometrial cancer patients

2021 ◽  
Vol 160 (1) ◽  
pp. 161-168
Author(s):  
Heather Hampel ◽  
Rachel Pearlman ◽  
Albert de la Chapelle ◽  
Colin C. Pritchard ◽  
Weiqiang Zhao ◽  
...  
Keyword(s):  
Endometrial Cancer ◽  
Lynch Syndrome ◽  
Cancer Patients ◽  
Mismatch Repair ◽  
Mismatch Repair Gene ◽  
Repair Gene ◽  
Pathogenic Variants
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