PubRank

Sylvie Mazoyer

Author PubWeight™ 61.67‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population. Nat Genet 2010 4.96
2 Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer. Nat Genet 2013 4.35
3 Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers. Am J Hum Genet 2008 3.41
4 Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. PLoS Genet 2013 2.39
5 The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons. Hum Mol Genet 2002 2.38
6 Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction. Cancer Res 2010 1.90
7 Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk. PLoS Genet 2013 1.88
8 Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants. Hum Mutat 2012 1.77
9 Down-regulation of BRCA1 expression by miR-146a and miR-146b-5p in triple negative sporadic breast cancers. EMBO Mol Med 2011 1.68
10 The 185delAG mutation (c.68_69delAG) in the BRCA1 gene triggers translation reinitiation at a downstream AUG codon. Hum Mutat 2006 1.58
11 Common genetic variants and modification of penetrance of BRCA2-associated breast cancer. PLoS Genet 2010 1.56
12 Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers. Hum Mol Genet 2011 1.51
13 Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst 2010 1.41
14 Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. Breast Cancer Res 2012 1.38
15 Comparison of nonsense-mediated mRNA decay efficiency in various murine tissues. BMC Genet 2008 1.34
16 Does the nonsense-mediated mRNA decay mechanism prevent the synthesis of truncated BRCA1, CHK2, and p53 proteins? Hum Mutat 2008 1.30
17 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 Res 2011 1.22
18 Significant contribution of germline BRCA2 rearrangements in male breast cancer families. Cancer Res 2004 1.18
19 Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. Cancer Epidemiol Biomarkers Prev 2012 1.17
20 Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers. Hum Mol Genet 2010 1.15
21 Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer. PLoS Biol 2011 1.12
22 BRCA1-Dependent Translational Regulation in Breast Cancer Cells. PLoS One 2013 1.11
23 Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles. PLoS One 2013 1.10
24 Unclassified variants identified in BRCA1 exon 11: Consequences on splicing. Genes Chromosomes Cancer 2008 1.07
25 Distinct BRCA1 rearrangements involving the BRCA1 pseudogene suggest the existence of a recombination hot spot. Am J Hum Genet 2002 1.05
26 BRCA2 deep intronic mutation causing activation of a cryptic exon: opening toward a new preventive therapeutic strategy. Clin Cancer Res 2012 1.03
27 Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers. Hum Mutat 2012 0.98
28 High incidence of mammary intraepithelial neoplasia development in Men1-disrupted murine mammary glands. J Pathol 2013 0.92
29 The rs2910164:G>C SNP in the MIR146A gene is not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers. Hum Mutat 2011 0.92
30 Breast cancer risk in BRCA1 and BRCA2 mutation carriers and polyglutamine repeat length in the AIB1 gene. Int J Cancer 2005 0.91
31 BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers. J Natl Cancer Inst 2015 0.90
32 COMPLEXO: identifying the missing heritability of breast cancer via next generation collaboration. Breast Cancer Res 2013 0.90
33 Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers. Breast Cancer Res 2014 0.89
34 Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers. Hum Mol Genet 2011 0.89
35 A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers. Cancer Epidemiol Biomarkers Prev 2012 0.89
36 Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers. Breast Cancer Res 2012 0.88
37 Common BRCA2 variants and modification of breast and ovarian cancer risk in BRCA1 mutation carriers. Cancer Epidemiol Biomarkers Prev 2005 0.86
38 BRCA1 and BRCA2 mutations in breast and ovarian cancer syndrome: reflection on the Creighton University historical series of high risk families. Fam Cancer 2006 0.86
39 Characterisation of a 161 kb deletion extending from the NBR1 to the BRCA1 genes in a French breast-ovarian cancer family. Hum Mutat 2003 0.85
40 Common genetic variation at BARD1 is not associated with breast cancer risk in BRCA1 or BRCA2 mutation carriers. Cancer Epidemiol Biomarkers Prev 2011 0.83
41 Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers. Breast Cancer Res 2010 0.82
42 BRCA1 wild-type allele modifies risk of ovarian cancer in carriers of BRCA1 germ-line mutations. Cancer Epidemiol Biomarkers Prev 2003 0.79
43 Direct visualization of the highly polymorphic RNU2 locus in proximity to the BRCA1 gene. PLoS One 2013 0.79
44 Exploring the link between MORF4L1 and risk of breast cancer. Breast Cancer Res 2011 0.79
45 A missense variant within BRCA1 exon 23 causing exon skipping. Cancer Genet Cytogenet 2010 0.77
46 The BRCA1 exon 13 duplication in the Swedish population. Fam Cancer 2005 0.77
47 Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers. J Natl Cancer Inst 2017 0.75