Catherine Dubois-D'enghien

Paris, France

Last Updated: 09/26/2026

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Found 22 publications

Prevalence of the Predisposing Gene MBD4 for Uveal Melanoma.

Prevalence of the Predisposing Gene MBD4 for Uveal Melanoma.

Journal: JAMA ophthalmology

Published: April 30, 2026

BARD1 and breast cancer genetic predisposition: case-control study and HRD signature analysis.

BARD1 and breast cancer genetic predisposition: case-control study and HRD signature analysis.

Journal: Breast cancer (Tokyo, Japan)

Published: December 05, 2025

Author Correction: A founder BRCA1 exonic duplication involving breakpoint in T2T reference genome-specific region results in constitutional fusion transcript.

Author Correction: A founder BRCA1 exonic duplication involving breakpoint in T2T reference genome-specific region results in constitutional fusion transcript.

Journal: NPJ genomic medicine

Published: September 02, 2025

Cancer risks for ATM variant heterozygotes.

Cancer risks for ATM variant heterozygotes.

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

Published: September 01, 2025

Uveal Melanoma and the Lynch Syndrome Tumor Spectrum.

Uveal Melanoma and the Lynch Syndrome Tumor Spectrum.

Journal: JAMA ophthalmology

Published: June 18, 2025

A founder BRCA1 exonic duplication involving breakpoint in T2T reference genome-specific region results in constitutional fusion transcript.

A founder BRCA1 exonic duplication involving breakpoint in T2T reference genome-specific region results in constitutional fusion transcript.

Journal: NPJ genomic medicine

Published: February 14, 2025

Familial uveal melanoma and other tumors in 25 families with monoallelic germline MBD4 variants.

Familial uveal melanoma and other tumors in 25 families with monoallelic germline MBD4 variants.

Journal: Journal of the National Cancer Institute

Published: July 17, 2023

Highly Sensitive Detection Method of DICER1 Tumor Hotspot Mutations by Drop-off Droplet Digital PCR.

Highly Sensitive Detection Method of DICER1 Tumor Hotspot Mutations by Drop-off Droplet Digital PCR.

Journal: Clinical chemistry

Published: July 31, 2021

Recurrent FAN1 p.W707X Pathogenic Variant Originating Before ad 1800 Underlies High Frequency of Karyomegalic Interstitial Nephritis in South Pacific Islands.

Recurrent FAN1 p.W707X Pathogenic Variant Originating Before ad 1800 Underlies High Frequency of Karyomegalic Interstitial Nephritis in South Pacific Islands.

Journal: Kidney international reports

Published: February 17, 2021

Testicular Sertoli cell tumour and potentially testicular Leydig cell tumour are features of DICER1 syndrome.

Testicular Sertoli cell tumour and potentially testicular Leydig cell tumour are features of DICER1 syndrome.

Journal: Journal of medical genetics

Published: September 19, 2020

Clinical and Genetic Features of Patients With Fanconi Anemia in Lebanon and Report on Novel Mutations in the FANCA and FANCG Genes.

Clinical and Genetic Features of Patients With Fanconi Anemia in Lebanon and Report on Novel Mutations in the FANCA and FANCG Genes.

Journal: Journal of pediatric hematology/oncology

Published: April 12, 2020

DNA repair functional analyses of NBN hypomorphic variants associated with NBN-related infertility.

DNA repair functional analyses of NBN hypomorphic variants associated with NBN-related infertility.

Journal: Human mutation

Published: July 13, 2019

Showing 1-12 of 22

Last Updated: 09/26/2026