Marie-pierre P. Buisine

Lille, France

Last Updated: 09/26/2026

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Found 32 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

RNA-based diagnostic studies in genetics: Review and guidance from a multidisciplinary French network.

RNA-based diagnostic studies in genetics: Review and guidance from a multidisciplinary French network.

Journal: European journal of human genetics : EJHG

Published: November 27, 2024

Comparison of the ABC and ACMG systems for variant classification.

Comparison of the ABC and ACMG systems for variant classification.

Journal: European journal of human genetics : EJHG

Published: December 19, 2023

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

Assembly and organization of the N-terminal region of mucin MUC5AC: Indications for structural and functional distinction from MUC5B.

Assembly and organization of the N-terminal region of mucin MUC5AC: Indications for structural and functional distinction from MUC5B.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: August 23, 2021

Diagnosis of Lynch Syndrome and Strategies to Distinguish Lynch-Related Tumors from Sporadic MSI/dMMR Tumors.

Diagnosis of Lynch Syndrome and Strategies to Distinguish Lynch-Related Tumors from Sporadic MSI/dMMR Tumors.

Journal: Cancers

Published: November 24, 2020

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

Performance of Next-Generation Sequencing for the Detection of Microsatellite Instability in Colorectal Cancer With Deficient DNA Mismatch Repair.

Performance of Next-Generation Sequencing for the Detection of Microsatellite Instability in Colorectal Cancer With Deficient DNA Mismatch Repair.

Journal: Gastroenterology

Published: September 13, 2020

Familial adenomatous polyposis associated craniopharyngioma secondary to both germline and somatic mutations in the APC gene.

Familial adenomatous polyposis associated craniopharyngioma secondary to both germline and somatic mutations in the APC gene.

Journal: Acta neuropathologica

Published: July 31, 2020

MUTYH-associated polyposis: Review and update of the French recommendations established in 2012 under the auspices of the National Cancer institute (INCa).

MUTYH-associated polyposis: Review and update of the French recommendations established in 2012 under the auspices of the National Cancer institute (INCa).

Journal: European journal of medical genetics

Published: June 26, 2020

Identification and management of Lynch syndrome in the Middle East and North African countries: outcome of a survey in 12 countries.

Identification and management of Lynch syndrome in the Middle East and North African countries: outcome of a survey in 12 countries.

Journal: Familial cancer

Published: May 06, 2020

MUTYH-associated polyposis: Review and update of the French recommendations established in 2012 under the auspices of the National Cancer Institute (INCa)

MUTYH-associated polyposis: Review and update of the French recommendations established in 2012 under the auspices of the National Cancer Institute (INCa)

Journal: Bulletin du cancer

Published: November 30, 2019

Showing 1-12 of 32

Last Updated: 09/26/2026