MSH2 c.1022T>C, p.Leu341Pro is a founder pathogenic variation and a major cause of Lynch syndrome in the North of France-Reference-Cited by-同舟云学术

MSH2 c.1022T>C, p.Leu341Pro is a founder pathogenic variation and a major cause of Lynch syndrome in the North of France

Published:2019-09-03 Issue:2 Volume:59 Page:111-118
ISSN:1045-2257
Container-title:Genes, Chromosomes and Cancer
language:en
Short-container-title:Genes Chromosomes Cancer

Author:

Vermaut Catherine¹,Leclerc Julie²,Vasseur Francis³,Wacrenier Agnes⁴,Lovecchio Tonio¹,Boidin Denis¹,Rebergue Marie‐Helene⁵,Cattan Stephane⁶,Manouvrier Sylvie⁵⁷,Lejeune Sophie⁵,Buisine Marie‐Pierre²

Affiliation:

1. Department of Biochemistry and Molecular BiologyLille University Hospital Lille France

2. Department of Biochemistry and Molecular BiologyInserm UMR‐S1172 ‐ Jean‐Pierre Aubert Research Center, Lille University, and Lille University Hospital Lille France

3. Department of BiostatisticsLille University and Lille University Hospital Lille France

4. Department of PathologyLille University Hospital Lille France

5. Department of Clinical GeneticsLille University Hospital Lille France

6. Department of GastroenterologyLille University Hospital Lille France

7. Department of Clinical GeneticsLille University EA 7364 ‐ RADEME (Maladies RAres du Développement et du Métabolisme), and Lille University Hospital Lille France

Funder

Institut National Du Cancer

Publisher

Wiley

Subject

Cancer Research,Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/gcc.22804

Reference20 articles.

1. Hereditary Colorectal Cancer

2. Cancer Risks Associated With Germline Mutations in MLH1, MSH2, and MSH6 Genes in Lynch Syndrome

3. Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications

4. Identification and characterization of a novel MLH1 genomic rearrangement as the cause of HNPCC in a Tunisian family: evidence for a homologous Alu-mediated recombination

5. Evaluation of a new panel of six mononucleotide repeat markers for the detection of DNA mismatch repair-deficient tumours

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