Sophie Lejeune

Lille, France

Last Updated: 09/26/2026

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Found 20 publications

MLH1 Constitutional Epimutation Screening Requires Highly Sensitive Assays to Identify Lynch Syndrome Patients With Very Low Mosaic Methylation Level.

MLH1 Constitutional Epimutation Screening Requires Highly Sensitive Assays to Identify Lynch Syndrome Patients With Very Low Mosaic Methylation Level.

Journal: Human mutation

Published: November 29, 2024

Postzygotic mosaicism of SMARCB1 variants in patients with rhabdoid tumors: A not-so-rare condition exposing to successive tumors.

Postzygotic mosaicism of SMARCB1 variants in patients with rhabdoid tumors: A not-so-rare condition exposing to successive tumors.

Journal: Neuro-oncology

Published: August 02, 2024

AXIN2 germline testing in a French cohort validates pathogenic variants as a rare cause of predisposition to colorectal polyposis and cancer.

AXIN2 germline testing in a French cohort validates pathogenic variants as a rare cause of predisposition to colorectal polyposis and cancer.

Journal: Genes, chromosomes & cancer

Published: September 26, 2022

Management of Pathogenic CDH1 Variant Carriers Within the FREGAT Network: A Multicentric Retrospective Study.

Management of Pathogenic CDH1 Variant Carriers Within the FREGAT Network: A Multicentric Retrospective Study.

Journal: Annals of surgery

Published: July 20, 2022

Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach.

Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach.

Journal: American journal of human genetics

Published: June 15, 2021

Novel germline MET pathogenic variants in French patients with papillary renal cell carcinomas type I.

Novel germline MET pathogenic variants in French patients with papillary renal cell carcinomas type I.

Journal: Human mutation

Published: May 24, 2021

Further delineation of the NTHL1 associated syndrome: A report from the French Oncogenetic Consortium.

Further delineation of the NTHL1 associated syndrome: A report from the French Oncogenetic Consortium.

Journal: Clinical genetics

Published: November 04, 2020

Confirmation of risk of cancer in blepharocheilodontic syndrome.

Confirmation of risk of cancer in blepharocheilodontic syndrome.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: May 11, 2020

Germline PAX5 mutation predisposes to familial B-cell precursor acute lymphoblastic leukemia.

Germline PAX5 mutation predisposes to familial B-cell precursor acute lymphoblastic leukemia.

Journal: Blood

Published: April 06, 2020

Germline mutations in the new E1' cryptic exon of the VHL gene in patients with tumours of von Hippel-Lindau disease spectrum or with paraganglioma.

Germline mutations in the new E1' cryptic exon of the VHL gene in patients with tumours of von Hippel-Lindau disease spectrum or with paraganglioma.

Journal: Journal of medical genetics

Published: August 22, 2019

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

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

Journal: Genes, chromosomes & cancer

Published: May 23, 2019

Optimization of Next-Generation Sequencing Technologies for von Hippel Lindau (VHL) Mosaic Mutation Detection and Development of Confirmation Methods.

Optimization of Next-Generation Sequencing Technologies for von Hippel Lindau (VHL) Mosaic Mutation Detection and Development of Confirmation Methods.

Journal: The Journal of molecular diagnostics : JMD

Published: June 13, 2018

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Last Updated: 09/26/2026