PubRank

Dominique Stoppa-Lyonnet

Author PubWeight™ 164.43‹?›

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 Protein interaction mapping: a Drosophila case study. Genome Res 2005 4.15
4 Salpingo-oophorectomy and the risk of ovarian, fallopian tube, and peritoneal cancers in women with a BRCA1 or BRCA2 Mutation. JAMA 2006 4.09
5 RAD51 135G-->C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies. Am J Hum Genet 2007 3.63
6 A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma. Nature 2011 3.53
7 Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers. Am J Hum Genet 2008 3.41
8 Genome Alteration Print (GAP): a tool to visualize and mine complex cancer genomic profiles obtained by SNP arrays. Genome Biol 2009 2.88
9 Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. PLoS Genet 2013 2.39
10 The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons. Hum Mol Genet 2002 2.38
11 A genome wide linkage search for breast cancer susceptibility genes. Genes Chromosomes Cancer 2006 2.35
12 Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers. Hum Mol Genet 2009 2.13
13 Myelodysplasia and leukemia of Fanconi anemia are associated with a specific pattern of genomic abnormalities that includes cryptic RUNX1/AML1 lesions. Blood 2011 1.99
14 Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Cancer Epidemiol Biomarkers Prev 2011 1.99
15 2009 version of the Chompret criteria for Li Fraumeni syndrome. J Clin Oncol 2009 1.97
16 ENIGMA--evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes. Hum Mutat 2011 1.94
17 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
18 Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk. PLoS Genet 2013 1.88
19 Ploidy and large-scale genomic instability consistently identify basal-like breast carcinomas with BRCA1/2 inactivation. Cancer Res 2012 1.78
20 Evaluation of in silico splice tools for decision-making in molecular diagnosis. Hum Mutat 2008 1.78
21 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
22 Functional consequences of ATM sequence variants for chromosomal radiosensitivity. Genes Chromosomes Cancer 2004 1.76
23 AURKA F31I polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a consortium of investigators of modifiers of BRCA1/2 study. Cancer Epidemiol Biomarkers Prev 2007 1.75
24 Germline BAP1 mutations predispose to renal cell carcinomas. Am J Hum Genet 2013 1.69
25 Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments. Hum Mutat 2002 1.66
26 Prophylactic salpingo-oophorectomy in a series of 89 women carrying a BRCA1 or a BRCA2 mutation. Cancer 2007 1.63
27 Professionals assess the acceptability of preimplantation genetic diagnosis and prenatal diagnosis for managing inherited predisposition to cancer. J Clin Oncol 2009 1.62
28 High frequency of TP53 mutation in BRCA1 and sporadic basal-like carcinomas but not in BRCA1 luminal breast tumors. Cancer Res 2009 1.61
29 Identification of typical medullary breast carcinoma as a genomic sub-group of basal-like carcinomas, a heterogeneous new molecular entity. Breast Cancer Res 2007 1.58
30 Common genetic variants and modification of penetrance of BRCA2-associated breast cancer. PLoS Genet 2010 1.56
31 Lack of HIN-1 methylation defines specific breast tumor subtypes including medullary carcinoma of the breast and BRCA1-linked tumors. Cancer Biol Ther 2003 1.52
32 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
33 Should chromosome breakage studies be performed in patients with VACTERL association? Am J Med Genet A 2005 1.42
34 Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst 2010 1.41
35 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
36 Does the nonsense-mediated mRNA decay mechanism prevent the synthesis of truncated BRCA1, CHK2, and p53 proteins? Hum Mutat 2008 1.30
37 Tamoxifen and risk of contralateral breast cancer for BRCA1 and BRCA2 mutation carriers. J Clin Oncol 2013 1.29
38 A comparison of bilateral breast cancers in BRCA carriers. Cancer Epidemiol Biomarkers Prev 2005 1.27
39 Testing for BRCA1 mutations: a cost-effectiveness analysis. Eur J Hum Genet 2002 1.26
40 Diagnosis of Fanconi anemia in patients with bone marrow failure. Haematologica 2009 1.25
41 Genotype-phenotype correlations in hereditary familial retinoblastoma. Hum Mutat 2007 1.25
42 Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes. Am J Hum Genet 2006 1.24
43 Evaluation of linkage of breast cancer to the putative BRCA3 locus on chromosome 13q21 in 128 multiple case families from the Breast Cancer Linkage Consortium. Proc Natl Acad Sci U S A 2002 1.23
44 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
45 Significant contribution of germline BRCA2 rearrangements in male breast cancer families. Cancer Res 2004 1.18
46 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
47 On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populations. Eur J Hum Genet 2010 1.17
48 Risk of breast cancer recurrence and contralateral breast cancer in relation to BRCA1 and BRCA2 mutation status following breast-conserving surgery and radiotherapy. Eur J Cancer 2005 1.15
49 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
50 Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study. Eur J Hum Genet 2009 1.13
51 Spontaneous abrogation of the G₂DNA damage checkpoint has clinical benefits but promotes leukemogenesis in Fanconi anemia patients. J Clin Invest 2010 1.13
52 X inactive-specific transcript RNA coating and genetic instability of the X chromosome in BRCA1 breast tumors. Cancer Res 2007 1.12
53 A single mutated BRCA1 allele leads to impaired fidelity of double strand break end-joining. Oncogene 2002 1.12
54 MDM2 as a modifier gene in retinoblastoma. J Natl Cancer Inst 2010 1.09
55 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. Hum Mutat 2011 1.08
56 Patients' characteristics and rate of Internet use to obtain cancer information. J Public Health (Oxf) 2006 1.08
57 Familial breast cancer: clinical response to induction chemotherapy or radiotherapy related to BRCA1/2 mutations status. Am J Clin Oncol 2009 1.07
58 Analysis of the DND1 gene in men with sporadic and familial testicular germ cell tumors. Genes Chromosomes Cancer 2008 1.05
59 Visualizing chromosomes as transcriptome correlation maps: evidence of chromosomal domains containing co-expressed genes--a study of 130 invasive ductal breast carcinomas. Cancer Res 2005 1.05
60 Distinct BRCA1 rearrangements involving the BRCA1 pseudogene suggest the existence of a recombination hot spot. Am J Hum Genet 2002 1.05
61 Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. Cancer Epidemiol Biomarkers Prev 2010 1.01
62 BRAF as a melanoma susceptibility candidate gene? Cancer Res 2003 1.00
63 Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers. Hum Mutat 2012 0.98
64 Impact of gene patents on the cost-effective delivery of care: the case of BRCA1 genetic testing. Int J Technol Assess Health Care 2003 0.98
65 Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype. J Allergy Clin Immunol 2011 0.97
66 Impact of an information booklet on satisfaction and decision-making about BRCA genetic testing. Eur J Cancer 2006 0.97
67 The European BRCA patent oppositions and appeals: coloring inside the lines. Nat Biotechnol 2013 0.95
68 Germline mutation in the RAD51B gene confers predisposition to breast cancer. BMC Cancer 2013 0.95
69 BAP1 and breast cancer risk. Fam Cancer 2005 0.94
70 Molecular and genealogical characterization of the R1443X BRCA1 mutation in high-risk French-Canadian breast/ovarian cancer families. Hum Genet 2005 0.94
71 Phenotypic cellular characterization of an ataxia telangiectasia patient carrying a causal homozygous missense mutation. Hum Mutat 2003 0.93
72 Is the breast-conserving treatment with radiotherapy appropriate in BRCA1/2 mutation carriers? Long-term results and review of the literature. Breast Cancer Res Treat 2009 0.93
73 A deep intronic mutation in the RB1 gene leads to intronic sequence exonisation. Eur J Hum Genet 2007 0.93
74 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
75 Breast cancer risk in BRCA1 and BRCA2 mutation carriers and polyglutamine repeat length in the AIB1 gene. Int J Cancer 2005 0.91
76 Fidelity of DNA double-strand break repair in heterozygous cell lines harbouring BRCA1 missense mutations. Oncogene 2004 0.91
77 BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers. J Natl Cancer Inst 2015 0.90
78 Testing participation in BRCA1/2-positive families: initiator role of index cases. Genet Test 2003 0.90
79 No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a multi-center cohort study. Breast Cancer Res Treat 2008 0.90
80 Variation in breast cancer risk with mutation position, smoking, alcohol, and chest X-ray history, in the French National BRCA1/2 carrier cohort (GENEPSO). Breast Cancer Res Treat 2011 0.90
81 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
82 Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations. Eur J Hum Genet 2011 0.89
83 Clinical and molecular findings of ataxia with oculomotor apraxia type 2 in 4 families. Arch Neurol 2008 0.89
84 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
85 Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers. Hum Mol Genet 2011 0.89
86 Significant contribution of large BRCA1 gene rearrangements in 120 French breast and ovarian cancer families. Oncogene 2002 0.89
87 Analysis of the allele-specific expression of the mismatch repair gene MLH1 using a simple DHPLC-Based Method. Hum Mutat 2004 0.89
88 Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers. Breast Cancer Res 2012 0.88
89 High-throughput simultaneous detection of point mutations and large-scale rearrangements by CE. Electrophoresis 2007 0.87
90 Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers. Hum Genet 2011 0.87
91 BRCA1/2 carriers: their childbearing plans and theoretical intentions about having preimplantation genetic diagnosis and prenatal diagnosis. Genet Med 2012 0.86
92 Biallelic inactivation of REV7 is associated with Fanconi anemia. J Clin Invest 2016 0.86
93 Germline mutations in BRCA1 and BRCA2 genes in ethnically diverse high risk families in Israel. Breast Cancer Res Treat 2010 0.86
94 Sex ratio among the offspring of BRCA mutation carriers. JAMA 2004 0.86
95 Common BRCA2 variants and modification of breast and ovarian cancer risk in BRCA1 mutation carriers. Cancer Epidemiol Biomarkers Prev 2005 0.86
96 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
97 Variation in breast cancer risk associated with factors related to pregnancies according to truncating mutation location, in the French National BRCA1 and BRCA2 mutations carrier cohort (GENEPSO). Breast Cancer Res 2012 0.85
98 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
99 BRCA1 testing in breast and/or ovarian cancer families from northeastern France identifies two common mutations with a founder effect. Fam Cancer 2004 0.83
100 ATM germline mutations in women with familial breast cancer and a relative with haematological malignancy. Breast Cancer Res Treat 2009 0.83
101 Spontaneous disclosure of BRCA1/2 genetic test results to employers: a French prospective study. Eur J Hum Genet 2012 0.82
102 Mosaicism in clinical practice exemplified by prenatal diagnosis in retinoblastoma. Prenat Diagn 2011 0.82
103 Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers. Breast Cancer Res 2010 0.82
104 Assessment of human Nter and Cter BRCA1 mutations using growth and localization assays in yeast. Hum Mutat 2011 0.82
105 The contribution of large genomic deletions at the CDKN2A locus to the burden of familial melanoma. Br J Cancer 2008 0.81
106 Haplotype analysis of the BRCA2 9254delATCAT recurrent mutation in breast/ovarian cancer families from Spain. Hum Mutat 2003 0.81
107 Loss of heterozygosity at 13q13 and 14q32 predicts BRCA2 inactivation in luminal breast carcinomas. Int J Cancer 2013 0.81
108 Effects of genetic consultation on perception of a family risk of breast/ovarian cancer and determinants of inaccurate perception after the consultation. J Clin Epidemiol 2002 0.80
109 [A new scoring system for the diagnosis of BRCA1/2 associated breast-ovarian cancer predisposition]. Bull Cancer 2011 0.80
110 Enhanced mismatch mutation analysis: simultaneous detection of point mutations and large scale rearrangements by capillary electrophoresis, application to BRCA1 and BRCA2. Methods Mol Biol 2010 0.79
111 Isolated generalized dystonia in biallelic missense mutations of the ATM gene. Mov Disord 2013 0.79
112 BRCA1 wild-type allele modifies risk of ovarian cancer in carriers of BRCA1 germ-line mutations. Cancer Epidemiol Biomarkers Prev 2003 0.79
113 Exploring the link between MORF4L1 and risk of breast cancer. Breast Cancer Res 2011 0.79
114 A new scoring system in cancer genetics: application to criteria for BRCA1 and BRCA2 mutation screening. J Med Genet 2013 0.78
115 Fertility defects revealing germline biallelic nonsense NBN mutations. Hum Mutat 2009 0.78
116 Which factors predict proposal and uptake of psychological counselling after BRCA1/2 test result disclosure? Psychooncology 2013 0.78
117 [Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes]. Med Sci (Paris) 2006 0.77
118 Screening for genomic rearrangements by multiplex PCR/liquid chromatography. Methods Mol Biol 2011 0.77
119 Variation in breast cancer risk of heterozygotes for ataxia-telangiectasia according to environmental factors. Int J Cancer 2002 0.77
120 Ataxia-telangiectasia genes and breast cancer risk in a French family study. J Dairy Res 2005 0.77
121 A missense variant within BRCA1 exon 23 causing exon skipping. Cancer Genet Cytogenet 2010 0.77
122 Three new BLM gene mutations associated with Bloom syndrome. Genet Test 2008 0.77
123 Fanconi anemia and solid malignancies in childhood: a national retrospective study. Pediatr Blood Cancer 2014 0.76
124 Germline mutations of inhibins in early-onset ovarian epithelial tumors. Hum Mutat 2013 0.76
125 A high-throughput mutation detection method based on heteroduplex analysis using graft copolymer matrixes: application to Brca1 and Brca2 analysis. Anal Chem 2004 0.76
126 High-risk lesions in high-risk women: a high-risk formalin-based biology! J Clin Oncol 2004 0.75
127 Fine mapping of whole RB1 gene deletions in retinoblastoma patients confirms PCDH8 as a candidate gene for psychomotor delay. Eur J Hum Genet 2012 0.75
128 Hormone replacement therapy after prophylactic adnexectomy. Hered Cancer Clin Pract 2005 0.75
129 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
130 Evaluation of chromosome 6p22 as a breast cancer risk modifier locus in a follow-up study of BRCA2 mutation carriers. Breast Cancer Res Treat 2012 0.75
131 [Genetic consultation: hereditary cancer risk?]. Rev Prat 2011 0.75
132 [Opposition to Myriad Genetics patents and their total or partial revocation in Europe: early conclusions]. Med Sci (Paris) 2005 0.75
133 Proteomic analysis of BRCA1-depleted cell line reveals a putative role for replication protein A2 up-regulation in BRCA1 breast tumor development. Proteomics Clin Appl 2010 0.75
134 Clinicopathologic Characteristics of Endometrial Cancer in Lynch Syndrome: A French Multicenter Study. Int J Gynecol Cancer 2017 0.75
135 [Perception accuracy of BRCA1/2 mutation predisposition in breast cancer women and associated factors]. Bull Cancer 2012 0.75
136 Attenuated presentation of ataxia-telangiectasia with familial cancer history. J Neurol 2008 0.75
137 [Transcriptional abnormalities and genetic testing]. Med Sci (Paris) 2005 0.75
138 [Genetic predisposition and ovarian cancer]. Rev Prat 2004 0.75
139 [Oncogenetic consultation for breast cancer]. Presse Med 2007 0.75
140 [CHEK2 and breast cancer risk]. Bull Cancer 2002 0.75
141 [Family and genetic risk of breast cancer]. Soins 2013 0.75
142 Improving sensitivity of electrophoretic heteroduplex analysis using nucleosides as additives: Application to the breast cancer predisposition gene BRCA2. Electrophoresis 2006 0.75
143 [Are the hereditary forms of BRCA1 and BRCA2 breast cancer sensitive to estrogens?]. Bull Cancer 2004 0.75
144 [Federal judge and government of the United States against gene patenting]. Med Sci (Paris) 2012 0.75
145 [Genetic predisposition in children cancers in 2011]. Bull Cancer 2011 0.75
146 [Federal judge and government of the United States against gene patenting]. Med Sci (Paris) 2011 0.75
147 BRCA2 mutation screening is clinically relevant in breast and early prostate cancer families. Int J Urol 2007 0.75
148 [Hereditary forms of ovarian cancer]. Bull Cancer 2012 0.75
149 [New generation sequencing in medical genetics]. Med Sci (Paris) 2012 0.75
150 Breast and ovarian cancer risk management in a French cohort of 158 women carrying a BRCA1 or BRCA2 germline mutation: patient choices and outcome. Fam Cancer 2012 0.75
151 Biallelic inactivation of REV7 is associated with Fanconi anemia. J Clin Invest 2017 0.75
152 [MRI for breast-cancer screening in women with predisposition: an advance in detection?]. Med Sci (Paris) 2005 0.75