Published in Med Sci (Paris) on February 01, 2005
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
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer. Nat Genet (2013) 4.35
Protein interaction mapping: a Drosophila case study. Genome Res (2005) 4.15
Salpingo-oophorectomy and the risk of ovarian, fallopian tube, and peritoneal cancers in women with a BRCA1 or BRCA2 Mutation. JAMA (2006) 4.09
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
A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma. Nature (2011) 3.53
Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers. Am J Hum Genet (2008) 3.41
Genome Alteration Print (GAP): a tool to visualize and mine complex cancer genomic profiles obtained by SNP arrays. Genome Biol (2009) 2.88
Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. PLoS Genet (2013) 2.39
The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons. Hum Mol Genet (2002) 2.38
A genome wide linkage search for breast cancer susceptibility genes. Genes Chromosomes Cancer (2006) 2.35
Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers. Hum Mol Genet (2009) 2.13
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
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
2009 version of the Chompret criteria for Li Fraumeni syndrome. J Clin Oncol (2009) 1.97
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
Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk. PLoS Genet (2013) 1.88
Ploidy and large-scale genomic instability consistently identify basal-like breast carcinomas with BRCA1/2 inactivation. Cancer Res (2012) 1.78
Evaluation of in silico splice tools for decision-making in molecular diagnosis. Hum Mutat (2008) 1.78
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
Functional consequences of ATM sequence variants for chromosomal radiosensitivity. Genes Chromosomes Cancer (2004) 1.76
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
Germline BAP1 mutations predispose to renal cell carcinomas. Am J Hum Genet (2013) 1.69
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
Prophylactic salpingo-oophorectomy in a series of 89 women carrying a BRCA1 or a BRCA2 mutation. Cancer (2007) 1.63
Professionals assess the acceptability of preimplantation genetic diagnosis and prenatal diagnosis for managing inherited predisposition to cancer. J Clin Oncol (2009) 1.62
High frequency of TP53 mutation in BRCA1 and sporadic basal-like carcinomas but not in BRCA1 luminal breast tumors. Cancer Res (2009) 1.61
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
Common genetic variants and modification of penetrance of BRCA2-associated breast cancer. PLoS Genet (2010) 1.56
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
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
Should chromosome breakage studies be performed in patients with VACTERL association? Am J Med Genet A (2005) 1.42
Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst (2010) 1.41
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
Does the nonsense-mediated mRNA decay mechanism prevent the synthesis of truncated BRCA1, CHK2, and p53 proteins? Hum Mutat (2008) 1.30
Tamoxifen and risk of contralateral breast cancer for BRCA1 and BRCA2 mutation carriers. J Clin Oncol (2013) 1.29
A comparison of bilateral breast cancers in BRCA carriers. Cancer Epidemiol Biomarkers Prev (2005) 1.27
Testing for BRCA1 mutations: a cost-effectiveness analysis. Eur J Hum Genet (2002) 1.26
Diagnosis of Fanconi anemia in patients with bone marrow failure. Haematologica (2009) 1.25
Genotype-phenotype correlations in hereditary familial retinoblastoma. Hum Mutat (2007) 1.25
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
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
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
Significant contribution of germline BRCA2 rearrangements in male breast cancer families. Cancer Res (2004) 1.18
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
On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populations. Eur J Hum Genet (2010) 1.17
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
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
Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study. Eur J Hum Genet (2009) 1.13
Spontaneous abrogation of the G₂DNA damage checkpoint has clinical benefits but promotes leukemogenesis in Fanconi anemia patients. J Clin Invest (2010) 1.13
X inactive-specific transcript RNA coating and genetic instability of the X chromosome in BRCA1 breast tumors. Cancer Res (2007) 1.12
A single mutated BRCA1 allele leads to impaired fidelity of double strand break end-joining. Oncogene (2002) 1.12
MDM2 as a modifier gene in retinoblastoma. J Natl Cancer Inst (2010) 1.09
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
Patients' characteristics and rate of Internet use to obtain cancer information. J Public Health (Oxf) (2006) 1.08
Familial breast cancer: clinical response to induction chemotherapy or radiotherapy related to BRCA1/2 mutations status. Am J Clin Oncol (2009) 1.07
Analysis of the DND1 gene in men with sporadic and familial testicular germ cell tumors. Genes Chromosomes Cancer (2008) 1.05
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
Distinct BRCA1 rearrangements involving the BRCA1 pseudogene suggest the existence of a recombination hot spot. Am J Hum Genet (2002) 1.05
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
BRAF as a melanoma susceptibility candidate gene? Cancer Res (2003) 1.00
Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers. Hum Mutat (2012) 0.98
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
Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype. J Allergy Clin Immunol (2011) 0.97
Impact of an information booklet on satisfaction and decision-making about BRCA genetic testing. Eur J Cancer (2006) 0.97
The European BRCA patent oppositions and appeals: coloring inside the lines. Nat Biotechnol (2013) 0.95
Germline mutation in the RAD51B gene confers predisposition to breast cancer. BMC Cancer (2013) 0.95
BAP1 and breast cancer risk. Fam Cancer (2005) 0.94
Molecular and genealogical characterization of the R1443X BRCA1 mutation in high-risk French-Canadian breast/ovarian cancer families. Hum Genet (2005) 0.94
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
Phenotypic cellular characterization of an ataxia telangiectasia patient carrying a causal homozygous missense mutation. Hum Mutat (2003) 0.93
A deep intronic mutation in the RB1 gene leads to intronic sequence exonisation. Eur J Hum Genet (2007) 0.93
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
Breast cancer risk in BRCA1 and BRCA2 mutation carriers and polyglutamine repeat length in the AIB1 gene. Int J Cancer (2005) 0.91
Fidelity of DNA double-strand break repair in heterozygous cell lines harbouring BRCA1 missense mutations. Oncogene (2004) 0.91
BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers. J Natl Cancer Inst (2015) 0.90
Testing participation in BRCA1/2-positive families: initiator role of index cases. Genet Test (2003) 0.90
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
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
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
Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers. Hum Mol Genet (2011) 0.89
Clinical and molecular findings of ataxia with oculomotor apraxia type 2 in 4 families. Arch Neurol (2008) 0.89
Analysis of the allele-specific expression of the mismatch repair gene MLH1 using a simple DHPLC-Based Method. Hum Mutat (2004) 0.89
Significant contribution of large BRCA1 gene rearrangements in 120 French breast and ovarian cancer families. Oncogene (2002) 0.89
Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations. Eur J Hum Genet (2011) 0.89
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
Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers. Breast Cancer Res (2012) 0.88
Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers. Hum Genet (2011) 0.87
High-throughput simultaneous detection of point mutations and large-scale rearrangements by CE. Electrophoresis (2007) 0.87
BRCA1/2 carriers: their childbearing plans and theoretical intentions about having preimplantation genetic diagnosis and prenatal diagnosis. Genet Med (2012) 0.86
Biallelic inactivation of REV7 is associated with Fanconi anemia. J Clin Invest (2016) 0.86
Germline mutations in BRCA1 and BRCA2 genes in ethnically diverse high risk families in Israel. Breast Cancer Res Treat (2010) 0.86
Sex ratio among the offspring of BRCA mutation carriers. JAMA (2004) 0.86
Common BRCA2 variants and modification of breast and ovarian cancer risk in BRCA1 mutation carriers. Cancer Epidemiol Biomarkers Prev (2005) 0.86
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
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
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
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
ATM germline mutations in women with familial breast cancer and a relative with haematological malignancy. Breast Cancer Res Treat (2009) 0.83