Pitfalls in molecular analysis for mismatch repair deficiency in a family with biallelic pms2 germline mutations-Reference-Cited by-同舟云学术

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Pitfalls in molecular analysis for mismatch repair deficiency in a family with biallelic pms2 germline mutations

Published:2011-01-13 Issue:6 Volume:80 Page:558-565
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:

Author:

Leenen CHM,Geurts-Giele WRR,Dubbink HJ,Reddingius R,van den Ouweland AM,Tops CMJ,van de Klift HM,Kuipers EJ,van Leerdam ME,Dinjens WNM,Wagner A

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2010.01608.x/fullpdf

Reference38 articles.

1. Germ-line mutation of the hMSH6/GTBP gene in an atypical hereditary nonpolyposis colorectal cancer kindred.;Akiyama;Cancer Res,1997

2. Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer.;Bronner;Nature,1994

3. The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer.;Fishel;Cell,1993

4. Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer.;Miyaki;Nat Genet,1997

5. Mutations of two PMS homologues in hereditary nonpolyposis colon cancer.;Nicolaides;Nature,1994

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1. A Validated Highly Sensitive Microsatellite Instability Assay Accurately Identifies Individuals Harboring Biallelic Germline PMS2 Pathogenic Variants in Constitutional Mismatch Repair Deficiency;Clinical Chemistry;2024-03-26

2. The Challenge of Diagnosing Constitutional Mismatch Repair Deficiency Syndrome in Brain Malignancies from Young Individuals;International Journal of Molecular Sciences;2021-04-28

3. How Should We Test for Lynch Syndrome? A Review of Current Guidelines and Future Strategies;Cancers;2021-01-22

4. Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic NF1/SPRED1 variant negative children suspected of sporadic neurofibromatosis type 1;Genetics in Medicine;2020-12

5. Compound Heterozygous Variants in Pediatric Cancers: A Systematic Review;Frontiers in Genetics;2020-05-19

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