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High frequency of RUNX1 biallelic alteration in acute myeloid leukemia secondary to familial platelet disorder

Blood, 2009-05, Vol.113 (22), p.5583-5587

2009

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SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis

BMC neurology, 2011-01, Vol.11 (1), p.9-9, Article 9

2011

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Novel BRCA2 pathogenic variant c.5219 T > G; p.(Leu1740Ter) in a consanguineous Senegalese family with hereditary breast cancer

BMC medical genetics, 2019-05, Vol.20 (1), p.73-73, Article 73

2019

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Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

Nucleic acids research, 2018-09, Vol.46 (15), p.7913

2018

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Bayesian predictive model to assess BRCA2 mutational status according to clinical history: Early onset, metastatic phenotype or family history of breast/ovary cancer

The Prostate, 2021-05, Vol.81 (6), p.318-325

2021

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Evidence for an ancient BRCA1 pathogenic variant in inherited breast cancer patients from Senegal

Npj genomic medicine, 2020-01, Vol.5 (1), p.8-8, Article 8

2020

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Molecular study of the perforin gene in familial hematological malignancies

Hereditary cancer in clinical practice, 2011-09, Vol.9 (1), p.9-9, Article 9

2011

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Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using BRCA2 Exon 3 as a Model System

Cancer research (Chicago, Ill.), 2020-09, Vol.80 (17), p.3593-3605

2020

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Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Implications for Risk Prediction

Cancer research (Chicago, Ill.), 2010-12, Vol.70 (23), p.9742-9754

2010

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Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases

Nucleic acids research, 2012-01, Vol.40 (Database issue), p.D992

2012

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About sequence quality: impact on clinical applications

Genetic testing and molecular biomarkers, 2014-05, Vol.18 (5), p.299

2014

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Combining Homologous Recombination and Phosphopeptide-binding Data to Predict the Impact of BRCA1 BRCT Variants on Cancer Risk

Molecular cancer research, 2019-01, Vol.17 (1), p.54-69

2019

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Quantitative PCR high-resolution melting (qPCR-HRM) curve analysis, a new approach to simultaneously screen point mutations and large rearrangements: application to MLH1 germline mutations in Lynch syndrome

Human mutation, 2009-06, Vol.30 (6), p.867-875

2009

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Age-Dependent Cancer Risk Is Not Different in between MSH2 and MLH1 Mutation Carriers

Journal of Cancer Epidemiology, 2009-01, Vol.2009, p.791754-6

2009

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A new hybrid record linkage process to make epidemiological databases interoperable: application to the GEMO and GENEPSO studies involving BRCA1 and BRCA2 mutation carriers

BMC medical research methodology, 2021-07, Vol.21 (1)

2021

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Mutational analysis of apoptotic genes in familial aggregation of hematological malignancies

Bulletin du cancer, 2021-09, Vol.108 (9), p.798-805

2021

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Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer

PLoS genetics, 2010-10, Vol.6 (10), p.e1001183-e1001183

2010

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GATA2 gene analysis in several forms of hematological malignancies including familial aggregations

Annals of hematology, 2017-10, Vol.96 (10), p.1635-1639

2017

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The Signal Transducer and Activator of Transcription STAT5b Gene Is a New Partner of Retinoic Acid Receptor α in Acute Promyelocytic-Like Leukaemia

Human molecular genetics, 1999-09, Vol.8 (9), p.1741-1749

1999

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Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2

Breast cancer research : BCR, 2011-01, Vol.13 (6), p.R110-R110, Article R110

2011

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Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP

Journal of medical genetics, 2010-10, Vol.47 (10), p.721-722

2010

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Mutational analysis of TP53 gene in Tunisian familial hematological malignancies and sporadic acute leukemia cases

Familial cancer, 2017, Vol.16 (1), p.153-157

2017

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High frequency of RUNX1 biallelic alteration in acute myeloid leukemia secondary to familial platelet disorder

SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis

5′ Region Large Genomic Rearrangements in the BRCA1 Gene in French Families: Identification of a Tandem Triplication and Nine Distinct Deletions with Five Recurrent Breakpoints

Novel BRCA2 pathogenic variant c.5219 T > G; p.(Leu1740Ter) in a consanguineous Senegalese family with hereditary breast cancer

Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

Bayesian predictive model to assess BRCA2 mutational status according to clinical history: Early onset, metastatic phenotype or family history of breast/ovary cancer

Evidence for an ancient BRCA1 pathogenic variant in inherited breast cancer patients from Senegal

Molecular study of the perforin gene in familial hematological malignancies

Skipping Nonsense to Maintain Function: The Paradigm of BRCA2 Exon 12

Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using BRCA2 Exon 3 as a Model System

Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Implications for Risk Prediction

Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases

About sequence quality: impact on clinical applications

Combining Homologous Recombination and Phosphopeptide-binding Data to Predict the Impact of BRCA1 BRCT Variants on Cancer Risk

Quantitative PCR high-resolution melting (qPCR-HRM) curve analysis, a new approach to simultaneously screen point mutations and large rearrangements: application to MLH1 germline mutations in Lynch syndrome

Age-Dependent Cancer Risk Is Not Different in between MSH2 and MLH1 Mutation Carriers

A new hybrid record linkage process to make epidemiological databases interoperable: application to the GEMO and GENEPSO studies involving BRCA1 and BRCA2 mutation carriers

Mutational analysis of apoptotic genes in familial aggregation of hematological malignancies

Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer

GATA2 gene analysis in several forms of hematological malignancies including familial aggregations

The Signal Transducer and Activator of Transcription STAT5b Gene Is a New Partner of Retinoic Acid Receptor α in Acute Promyelocytic-Like Leukaemia

Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2

Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP

Mutational analysis of TP53 gene in Tunisian familial hematological malignancies and sporadic acute leukemia cases

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