- Genomic rearrangements in the BRCA1 and BRCA2 genesSylvie Mazoyer
Laboratoire de Génétique UMR5201 CNRS, Universite Claude Bernard Lyon 1, Lyon, France
Hum Mutat 25:415-22. 2005..The principal mechanisms that are thought to lead to their formation, founder effects, and recombination hotspots, are also discussed...
- Breast cancer risk in BRCA1 and BRCA2 mutation carriers and polyglutamine repeat length in the AIB1 geneDavid J Hughes
International Agency for Research on Cancer, Lyon, France
Int J Cancer 117:230-3. 2005....
- Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriersDavid G Cox
INSERM U1052, CNRS UMR5286, Universite Lyon 1, Cancer Research Center of Lyon, Lyon, France
Hum Mol Genet 20:4732-47. 2011..In conclusion, variants on the wild-type copy of BRCA1 modify risk of breast cancer among carriers of BRCA1 mutations, possibly by altering the efficiency of BRCA1 transcription...
- BRCA2 deep intronic mutation causing activation of a cryptic exon: opening toward a new preventive therapeutic strategyOlga Anczukow
Genetics of Breast Cancer Team, Cancer Research Centre of Lyon, CNRS UMR5286 Inserm U1052 Université Lyon 1, Centre Leon Berard, Lyon, France
Clin Cancer Res 18:4903-9. 2012....
- The rs2910164:G>C SNP in the MIR146A gene is not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriersAmandine I Garcia
CNRS UMR5286 Inserm U1052, Equipe Labellisée LIGUE 2008, Universite Lyon 1, Cancer Research Centre of Lyon, Centre Leon Berard, Lyon, France
Hum Mutat 32:1004-7. 2011..In conclusion, the polymorphism in the miR-146a gene is unlikely to be of substantial significance regarding breast cancer risk...
- Comparison of nonsense-mediated mRNA decay efficiency in various murine tissuesAlmoutassem B Zetoune
Laboratoire de Genetique Moleculaire, Signalisation et Cancer UMR5201 CNRS, Equipe Labellisée par Ligue Nationale contre Cance, Universite Lyon 1, Universite de Lyon, Faculte de Medecine, Lyon, France
BMC Genet 9:83. 2008..Here, we have explored this question by measuring the ratio of mutant versus wild-type Men1 transcripts in thirteen tissues from mice carrying a heterozygous truncating mutation in the ubiquitously expressed Men1 gene...
- Unclassified variants identified in BRCA1 exon 11: Consequences on splicingOlga Anczukow
Laboratoire de Genetique Moleculaire, Signalisation et Cancer UMR5201 CNRS, Lyon, France
Genes Chromosomes Cancer 47:418-26. 2008..The results of this study will be of value to classify BRCA1 exon 11 variants of unknown significance. This article contains Supplementary Material available at http://www.interscience.wiley.com/jpages/1045-2257/suppmat...
- BRCA1 wild-type allele modifies risk of ovarian cancer in carriers of BRCA1 germ-line mutationsSophie M Ginolhac
Centre National de la Recherche Scientifique, UMR 5641, Lyon, France
Cancer Epidemiol Biomarkers Prev 12:90-5. 2003..27)...
- Does the nonsense-mediated mRNA decay mechanism prevent the synthesis of truncated BRCA1, CHK2, and p53 proteins?Olga Anczukow
Laboratoire de Genetique Moleculaire, Signalisation et Cancer UMR5201 CNRS, Universite Lyon 1, Lyon, France
Hum Mutat 29:65-73. 2008..Therefore, our results show that it is not possible to infer the presence of truncated proteins in cells from carriers of a truncated mutation without experimental verification, as each case is expected to be different...
- The 185delAG mutation (c.68_69delAG) in the BRCA1 gene triggers translation reinitiation at a downstream AUG codonMonique Buisson
Laboratoire de Genetique Moleculaire, Signalisation et Cancer Unité Mixte de Recherche 5201 Centre National de la Recherche Scientifique, Universite Claude Bernard Lyon I, Lyon, France
Hum Mutat 27:1024-9. 2006..We show here that in the presence of a (PTC) at position 36 or 39, translation reinitiation occurs in the BRCA1 minigenes at position 128...
- Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriersAntonis C Antoniou
Cancer Research UK, Genetic Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, UK
Am J Hum Genet 82:937-48. 2008....
- BRCA1 and BRCA2 mutations in breast and ovarian cancer syndrome: reflection on the Creighton University historical series of high risk familiesOlga M Sinilnikova
Plate forme Mixte de Génétique Constitutionnelle des Cancers Fréquents, Hospices Civils de Lyon Centre Léon Bérard, Lyon Cedex 08, 69373, France
Fam Cancer 5:15-20. 2006....
- The BRCA1 exon 13 duplication in the Swedish populationBarbara Kremeyer
Department of Molecular Medicine, Center for Molecular Medicine L8 02, Karolinska Institutet, Karolinska sjukhuset, 171 76 Stockholm, Sweden
Fam Cancer 4:191-4. 2005
- Common BRCA2 variants and modification of breast and ovarian cancer risk in BRCA1 mutation carriersDavid J Hughes
Unit of Genetic Epidemiology, IARC, 150, cours Albert Thomas, 69372 Lyon Cedex 08, France
Cancer Epidemiol Biomarkers Prev 14:265-7. 2005..We conclude that if these single-nucleotide polymorphisms do modify the risk of cancer in BRCA1 mutation carriers, their effects are not significantly larger than that of N372H previously observed in the general population...
- Distinct BRCA1 rearrangements involving the BRCA1 pseudogene suggest the existence of a recombination hot spotNadine Puget
Laboratoire de Genetique, Unité Mixte de Recherche 5641 CNRS, Universite Claude Bernard, 8 avenue Rockefeller, 69373 Lyon Cedex 08, France
Am J Hum Genet 70:858-65. 2002..Thus, we report a new mutational mechanism for the BRCA1 gene. The presence of a large region homologous to BRCA1 on the same chromosome appears to constitute a hot spot for recombination...
- Significant contribution of germline BRCA2 rearrangements in male breast cancer familiesIsabelle Tournier
Institut National de la Santé et de la Recherche Médicale INSERM U614, Faculty of Medicine, IFRMP, University of Rouen, Rouen, France
Cancer Res 64:8143-7. 2004..These data suggest that screening for BRCA2 rearrangements should be done, especially in male breast cancer families tested negative for BRCA1 and BRCA2 mutations...
- Characterisation of a 161 kb deletion extending from the NBR1 to the BRCA1 genes in a French breast-ovarian cancer familySophie Gad
Service de génétique oncologique, Institut Curie, Paris, France
Hum Mutat 21:654. 2003..This 161 kb deletion encompassing the NBR1, PsiBRCA1, NBR2 and BRCA1 genes is the largest BRCA1 deletion reported so far. No specific phenotype was associated with the hemizygosity of these four genes...