about
Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variantsStreamlined ion torrent PGM-based diagnostics: BRCA1 and BRCA2 genes as a modelGermline mutation in the RAD51B gene confers predisposition to breast cancer.Haplotype analysis of the BRCA2 9254delATCAT recurrent mutation in breast/ovarian cancer families from Spain.Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers.Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study.Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers.Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriersCommon 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.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.A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers.Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers.Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer.Germline BAP1 mutations predispose to renal cell carcinomas.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).Enhanced mismatch mutation analysis: simultaneous detection of point mutations and large scale rearrangements by capillary electrophoresis, application to BRCA1 and BRCA2.Multiplex PCR/liquid chromatography assay for detection of gene rearrangements: application to RB1 gene.Fidelity of DNA double-strand break repair in heterozygous cell lines harbouring BRCA1 missense mutations.Ploidy and large-scale genomic instability consistently identify basal-like breast carcinomas with BRCA1/2 inactivation.Bar code screening on combed DNA for large rearrangements of the BRCA1 and BRCA2 genes in French breast cancer families.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.Comprehensive screening for constitutional RB1 mutations by DHPLC and QMPSF.Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer.Sporadic endometrial adenocarcinoma with MMR deficiency due to biallelic MSH2 somatic mutations.Contribution of germline deleterious variants in the RAD51 paralogs to breast and ovarian cancers.Evaluation of in silico splice tools for decision-making in molecular diagnosis.Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer.Genomic hallmarks of homologous recombination deficiency in invasive breast carcinomas.Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effortBreast and ovarian cancer predisposition due to de novo BRCA1 and BRCA2 mutations
P50
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P50
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Virginie Caux-Moncoutier
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Virginie Caux-Moncoutier
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Virginie Caux-Moncoutier
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Virginie Caux-Moncoutier
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Virginie Caux-Moncoutier
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