Emmanuelle Simonet-Barouk

Bordeaux, France

Last Updated: 09/26/2026

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Found 14 publications

PTEN alterations in sporadic and BRCA1-associated triple negative breast carcinomas.

PTEN alterations in sporadic and BRCA1-associated triple negative breast carcinomas.

Journal: Cancer genetics

Published: October 19, 2021

Increased incidence of pathogenic variants in ATM in the context of testing for breast and ovarian cancer predisposition.

Increased incidence of pathogenic variants in ATM in the context of testing for breast and ovarian cancer predisposition.

Journal: Journal of human genetics

Published: July 02, 2021

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

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

Dramatic response to PARP inhibition in a PALB2-mutated breast cancer: moving beyond BRCA.

Dramatic response to PARP inhibition in a PALB2-mutated breast cancer: moving beyond BRCA.

Journal: Annals of oncology : official journal of the European Society for Medical Oncology

Published: February 21, 2020

Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study.

Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study.

Journal: Journal of the National Cancer Institute

Published: December 05, 2017

Deletion of the transcription factor SOX4 is implicated in syndromic nephroblastoma.

Deletion of the transcription factor SOX4 is implicated in syndromic nephroblastoma.

Journal: Clinical genetics

Published: November 08, 2016

Combined tumor genomic profiling and exome sequencing in a breast cancer family implicates ATM in tumorigenesis: A proof of principle study.

Combined tumor genomic profiling and exome sequencing in a breast cancer family implicates ATM in tumorigenesis: A proof of principle study.

Journal: Genes, chromosomes & cancer

Published: October 14, 2016

Insertion of Alu elements at a PTEN hotspot in Cowden syndrome.

Insertion of Alu elements at a PTEN hotspot in Cowden syndrome.

Journal: European journal of human genetics : EJHG

Published: June 14, 2016

GENESIS: a French national resource to study the missing heritability of breast cancer.

GENESIS: a French national resource to study the missing heritability of breast cancer.

Journal: BMC cancer

Published: February 02, 2015

High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome.

High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome.

Journal: Journal of medical genetics

Published: January 22, 2013

Deletion of chromosomes 13q and 14q is a common feature of tumors with BRCA2 mutations.

Deletion of chromosomes 13q and 14q is a common feature of tumors with BRCA2 mutations.

Journal: PloS one

Published: August 22, 2012

Showing 1-12 of 14

Last Updated: 09/26/2026