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List of works by Virginie Caux-Moncoutier

A deep intronic mutation in the RB1 gene leads to intronic sequence exonisation

scientific article published on 14 February 2007

A high-throughput mutation detection method based on heteroduplex analysis using graft copolymer matrixes: application to Brca1 and Brca2 analysis

scientific article published on 01 August 2004

A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers

scientific article

Association of PHB 1630 C>T and MTHFR 677 C>T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study

scientific article

Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

scientific article published on 31 December 2014

Bar code screening on combed DNA for large rearrangements of the BRCA1 and BRCA2 genes in French breast cancer families

scientific article published on November 2002

Breast and ovarian cancer predisposition due to de novo BRCA1 and BRCA2 mutations

Calibration of pathogenicity due to variant-induced leaky splicing defects by using BRCA2 exon 3 as a model system

scientific article published on 08 July 2020

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.

scientific article published on 2 November 2011

Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers

scientific article

Comprehensive screening for constitutional RB1 mutations by DHPLC and QMPSF.

scientific article

Contribution of germline deleterious variants in the RAD51 paralogs to breast and ovarian cancers

scientific article

EMMA, a cost- and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patients

scientific article published on 08 February 2011

Enhanced mismatch mutation analysis: simultaneous detection of point mutations and large scale rearrangements by capillary electrophoresis, application to BRCA1 and BRCA2.

scientific article published on January 2010

Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA).

scientific article

Evaluation of in silico splice tools for decision-making in molecular diagnosis

scientific article published in July 2008

Fidelity of DNA double-strand break repair in heterozygous cell lines harbouring BRCA1 missense mutations

scientific article published on January 2004

Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer

scientific article published on 3 April 2018

Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers

scientific article

Genomic hallmarks of homologous recombination deficiency in invasive breast carcinomas

scientific article

Germline BAP1 mutations predispose to renal cell carcinomas

scientific article published on 16 May 2013

Germline mutation in the RAD51B gene confers predisposition to breast cancer

scientific article

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

scientific article

Haplotype analysis of the BRCA2 9254delATCAT recurrent mutation in breast/ovarian cancer families from Spain

scientific article

Identification of a large rearrangement of the BRCA1 gene using colour bar code on combed DNA in an American breast/ovarian cancer family previously studied by direct sequencing

scientific article published in June 2001

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

scientific article published on 23 October 2017

Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study

scientific article

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

scientific article published on 01 September 2019

Loss of heterozygosity at 13q13 and 14q32 predicts BRCA2 inactivation in luminal breast carcinomas

scientific article published on 10 July 2013

Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

scientific article published on April 2013

Multiplex PCR/liquid chromatography assay for detection of gene rearrangements: application to RB1 gene

scientific article published on 11 October 2004

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

scientific article published in November 2018

Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers

scientific article

Ploidy and large-scale genomic instability consistently identify basal-like breast carcinomas with BRCA1/2 inactivation

scientific article

Significant contribution of large BRCA1 gene rearrangements in 120 French breast and ovarian cancer families

scientific article published on 01 October 2002

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

scientific article published on 11 February 2020

Sporadic endometrial adenocarcinoma with MMR deficiency due to biallelic MSH2 somatic mutations

scientific article published on 17 August 2017

Streamlined ion torrent PGM-based diagnostics: BRCA1 and BRCA2 genes as a model

scientific article

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