Double heterozygotes of BRCA1/BRCA2 and mismatch repair gene pathogenic variants: case series and clinical implications

2021 ◽  
Author(s):  
Ido Laish ◽  
Eitan Friedman ◽  
Gili Levi-Reznick ◽  
Inbal Kedar ◽  
Lior Katz ◽  
...  
Keyword(s):  
Mismatch Repair ◽  
Case Series ◽  
Mismatch Repair Gene ◽  
Clinical Implications ◽  
Repair Gene ◽  
Pathogenic Variants ◽  
Brca1 Brca2

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

scholarly journals Oligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associated MSH2 DNA mismatch repair gene variants

2016 ◽  
Vol 113 (15) ◽  
pp. 4128-4133 ◽  
Author(s):  
Hellen Houlleberghs ◽  
Marleen Dekker ◽  
Hildo Lantermans ◽  
Roos Kleinendorst ◽  
Hendrikus Jan Dubbink ◽  
...  
Keyword(s):  
Lynch Syndrome ◽  
Mismatch Repair ◽  
Dna Mismatch Repair ◽  
Embryonic Stem ◽  
Mismatch Repair Gene ◽  
Missense Mutations ◽  
Repair Gene ◽  
Dna Mismatch ◽  
Mmr Genes ◽  
Pathogenic Variants

Single-stranded DNA oligonucleotides can achieve targeted base-pair substitution with modest efficiency but high precision. We show that “oligo targeting” can be used effectively to study missense mutations in DNA mismatch repair (MMR) genes. Inherited inactivating mutations in DNA MMR genes are causative for the cancer predisposition Lynch syndrome (LS). Although overtly deleterious mutations in MMR genes can clearly be ascribed as the cause of LS, the functional implications of missense mutations are often unclear. We developed a genetic screen to determine the pathogenicity of these variants of uncertain significance (VUS), focusing on mutator S homolog 2 (MSH2). VUS were introduced into the endogenous Msh2 gene of mouse embryonic stem cells by oligo targeting. Subsequent selection for MMR-deficient cells using the guanine analog 6-thioguanine allowed the detection of MMR-abrogating VUS. The screen was able to distinguish weak and strong pathogenic variants from polymorphisms and was used to investigate 59 Msh2 VUS. Nineteen of the 59 VUS were identified as pathogenic. Functional assays revealed that 14 of the 19 detected variants fully abrogated MMR activity and that five of the detected variants attenuated MMR activity. Implementation of the screen in clinical practice allows proper counseling of mutation carriers and treatment of their tumors.

Hypothesis: Possible role of retinoic acid therapy in patients with biallelic mismatch repair gene defects

2007 ◽  
Vol 167 (2) ◽  
pp. 225-229 ◽  
Author(s):  
Sven Gottschling ◽  
Harald Reinhard ◽  
Constanze Pagenstecher ◽  
Stefan Krüger ◽  
Jochen Raedle ◽  
...  
Keyword(s):  
Retinoic Acid ◽  
Mismatch Repair ◽  
Mismatch Repair Gene ◽  
Repair Gene ◽  
Acid Therapy ◽  
Gene Defects

scholarly journals Body Mass Index in Early Adulthood and Endometrial Cancer Risk for Mismatch Repair Gene Mutation Carriers

2011 ◽  
Vol 117 (4) ◽  
pp. 899-905 ◽  
Author(s):  
Aung Ko Win ◽  
James G. Dowty ◽  
Yoland C. Antill ◽  
Dallas R. English ◽  
John A. Baron ◽  
...  
Keyword(s):  
Body Mass Index ◽  
Endometrial Cancer ◽  
Cancer Risk ◽  
Mismatch Repair ◽  
Gene Mutation ◽  
Body Mass ◽  
Early Adulthood ◽  
Mismatch Repair Gene ◽  
Repair Gene ◽  
Endometrial Cancer Risk

scholarly journals Estradiol regulates miR-135b and mismatch repair gene expressionsviaestrogen receptor-β in colorectal cells

2012 ◽  
Vol 44 (12) ◽  
pp. 723 ◽  
Author(s):  
Yu-qi He ◽  
Jian-qiu Sheng ◽  
Xian-long Ling ◽  
Lei Fu ◽  
Peng Jin ◽  
...  
Keyword(s):  
Mismatch Repair ◽  
Mismatch Repair Gene ◽  
Repair Gene
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