Published in Breast Cancer Res on July 25, 2011
Gene-panel sequencing and the prediction of breast-cancer risk. N Engl J Med (2015) 4.77
Rare mutations in XRCC2 increase the risk of breast cancer. Am J Hum Genet (2012) 2.06
Rare mutations in RINT1 predispose carriers to breast and Lynch syndrome-spectrum cancers. Cancer Discov (2014) 1.52
BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk. J Med Genet (2012) 1.13
Prevalence of PALB2 mutations in Australasian multiple-case breast cancer families. Breast Cancer Res (2013) 1.09
Germline mutations in oncogene-induced senescence pathways are associated with multiple sessile serrated adenomas. Gastroenterology (2014) 0.99
PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS. J Med Genet (2016) 0.95
Clinical Application of Multigene Panels: Challenges of Next-Generation Counseling and Cancer Risk Management. Front Oncol (2015) 0.95
Hereditary breast and ovarian cancer: new genes in confined pathways. Nat Rev Cancer (2016) 0.94
Not All Next Generation Sequencing Diagnostics are Created Equal: Understanding the Nuances of Solid Tumor Assay Design for Somatic Mutation Detection. Cancers (Basel) (2015) 0.94
RAD51 and breast cancer susceptibility: no evidence for rare variant association in the Breast Cancer Family Registry study. PLoS One (2012) 0.93
Tug of war between survival and death: exploring ATM function in cancer. Int J Mol Sci (2014) 0.92
Development of a tiered and binned genetic counseling model for informed consent in the era of multiplex testing for cancer susceptibility. Genet Med (2014) 0.90
Growing recognition of the role for rare missense substitutions in breast cancer susceptibility. Biomark Med (2014) 0.89
Inherited predisposition to breast cancer among African American women. Breast Cancer Res Treat (2014) 0.88
Trial Watch: Targeting ATM-CHK2 and ATR-CHK1 pathways for anticancer therapy. Mol Cell Oncol (2015) 0.86
ATM gene mutations in sporadic breast cancer patients from Brazil. Springerplus (2015) 0.79
Tumour morphology of early-onset breast cancers predicts breast cancer risk for first-degree relatives: the Australian Breast Cancer Family Registry. Breast Cancer Res (2012) 0.79
No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing. J Med Genet (2016) 0.79
Genomic Biomarkers for Breast Cancer Risk. Adv Exp Med Biol (2016) 0.77
Methylation of Breast Cancer Predisposition Genes in Early-Onset Breast Cancer: Australian Breast Cancer Family Registry. PLoS One (2016) 0.77
Contralateral Prophylactic Mastectomy: Challenging Considerations for the Surgeon. Ann Surg Oncol (2015) 0.77
Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer. JAMA Oncol (2017) 0.77
Sensitivity of BRCA1/2 testing in high-risk breast/ovarian/male breast cancer families: little contribution of comprehensive RNA/NGS panel testing. Eur J Hum Genet (2016) 0.76
Incorporating truncating variants in PALB2, CHEK2, and ATM into the BOADICEA breast cancer risk model. Genet Med (2016) 0.76
Prospective study of high-risk, BRCA1/2-mutation negative women: the 'negative study'. BMC Cancer (2014) 0.76
The Relationship between -2548 G/A Leptin Gene Polymorphism and Risk of Breast Cancer and Serum Leptin Levels in Ahvazian Women. Iran J Cancer Prev (2015) 0.76
Genome-wide small RNA sequencing and gene expression analysis reveals a microRNA profile of cancer susceptibility in ATM-deficient human mammary epithelial cells. PLoS One (2013) 0.76
Tobacco habituated and non-habituated subjects exhibit different mutational spectrums in head and neck squamous cell carcinoma. 3 Biotech (2014) 0.75
The fate of BRCA1-related germline mutations in triple-negative breast tumors. Am J Cancer Res (2017) 0.75
Increased genomic burden of germline copy number variants is associated with early onset breast cancer: Australian breast cancer family registry. Breast Cancer Res (2017) 0.75
Estimating risks for variants of unknown significance according to their predicted pathogenicity classes with application to BRCA1. Breast Cancer Res Treat (2014) 0.75
ATM mutations for surgeons. Fam Cancer (2016) 0.75
Endometrial cancer gene panels: clinical diagnostic vs research germline DNA testing. Mod Pathol (2017) 0.75
Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet (2003) 18.67
ATM and related protein kinases: safeguarding genome integrity. Nat Rev Cancer (2003) 16.06
Programs for Pedigree Analysis: MENDEL, FISHER, and dGENE. Genet Epidemiol (1988) 13.73
A common coding variant in CASP8 is associated with breast cancer risk. Nat Genet (2007) 7.35
ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. Nat Genet (2006) 6.67
Prediction of BRCA1 status in patients with breast cancer using estrogen receptor and basal phenotype. Clin Cancer Res (2005) 5.70
The Breast Cancer Family Registry: an infrastructure for cooperative multinational, interdisciplinary and translational studies of the genetic epidemiology of breast cancer. Breast Cancer Res (2004) 4.54
The emerging landscape of breast cancer susceptibility. Nat Genet (2008) 4.27
Breast and other cancers in families with ataxia-telangiectasia. N Engl J Med (1987) 3.86
Laser-capture microdissection. Nat Protoc (2006) 3.80
Heterozygous ATM mutations do not contribute to early onset of breast cancer. Nat Genet (1997) 3.66
Dominant negative ATM mutations in breast cancer families. J Natl Cancer Inst (2002) 3.46
Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers. Am J Hum Genet (2008) 3.41
Evidence for further breast cancer susceptibility genes in addition to BRCA1 and BRCA2 in a population-based study. Genet Epidemiol (2001) 3.35
The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species. Hum Mol Genet (1995) 3.05
In silico analysis of missense substitutions using sequence-alignment based methods. Hum Mutat (2008) 2.73
Breast cancer prognostic classification in the molecular era: the role of histological grade. Breast Cancer Res (2010) 2.33
Multiple K-ras codon 12 mutations in cholangiocarcinomas demonstrated with a sensitive polymerase chain reaction technique. Cancer Res (1991) 2.30
The PARP inhibitor olaparib induces significant killing of ATM-deficient lymphoid tumor cells in vitro and in vivo. Blood (2010) 2.09
ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer. Am J Hum Genet (1998) 2.06
Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resource. Breast Cancer Res (2006) 2.05
Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer. Am J Hum Genet (2009) 2.02
Inhibition of poly (ADP-ribose) polymerase activates ATM which is required for subsequent homologous recombination repair. Nucleic Acids Res (2006) 1.88
Spectrum of ATM gene mutations in a hospital-based series of unselected breast cancer patients. Cancer Res (2001) 1.62
Cancer risk in ATM heterozygotes: a model of phenotypic and mechanistic differences between missense and truncating mutations. Mol Genet Metab (1999) 1.50
Diversity of ATM gene mutations detected in patients with ataxia-telangiectasia. Hum Mutat (1997) 1.37
Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics. Hum Mutat (2009) 1.35
Population-based estimates of breast cancer risks associated with ATM gene variants c.7271T>G and c.1066-6T>G (IVS10-6T>G) from the Breast Cancer Family Registry. Hum Mutat (2006) 1.34
Increased frequency of ATM mutations in breast carcinoma patients with early onset disease and positive family history. Cancer (2001) 1.33
Ancestral inference. I. The problem and the method. Ann Hum Genet (1978) 1.30
AT-tributable risks? Nat Genet (1997) 1.28
Contributions of ATM mutations to familial breast and ovarian cancer. Cancer Res (2003) 1.28
ATM missense mutations are frequent in patients with breast cancer. Cancer Genet Cytogenet (2003) 1.06
Identification of germline missense mutations and rare allelic variants in the ATM gene in early-onset breast cancer. Genes Chromosomes Cancer (1999) 1.04
Progesterone receptor gene variants and risk of endometrial cancer. Carcinogenesis (2010) 0.98
Missense variants in ATM in 26,101 breast cancer cases and 29,842 controls. Cancer Epidemiol Biomarkers Prev (2010) 0.91
Characterization of the breast cancer associated ATM 7271T>G (V2424G) mutation by gene expression profiling. Genes Chromosomes Cancer (2006) 0.86
Mutations of the BRAF gene in human cancer. Nature (2002) 65.42
Patterns of somatic mutation in human cancer genomes. Nature (2007) 38.41
Genome-wide association study identifies novel breast cancer susceptibility loci. Nature (2007) 29.23
Multiple newly identified loci associated with prostate cancer susceptibility. Nat Genet (2008) 15.43
Multiple regions within 8q24 independently affect risk for prostate cancer. Nat Genet (2007) 14.37
Aberrant luminal progenitors as the candidate target population for basal tumor development in BRCA1 mutation carriers. Nat Med (2009) 10.88
Admixture mapping identifies 8q24 as a prostate cancer risk locus in African-American men. Proc Natl Acad Sci U S A (2006) 10.32
Cancer risk in 680,000 people exposed to computed tomography scans in childhood or adolescence: data linkage study of 11 million Australians. BMJ (2013) 9.38
Lung cancer: intragenic ERBB2 kinase mutations in tumours. Nature (2004) 8.35
Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat Genet (2013) 8.24
A common coding variant in CASP8 is associated with breast cancer risk. Nat Genet (2007) 7.35
Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2. Nat Genet (2009) 7.30
A screen of the complete protein kinase gene family identifies diverse patterns of somatic mutations in human breast cancer. Nat Genet (2005) 6.70
A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3. Nat Genet (2008) 6.26
Heterogeneity of breast cancer associations with five susceptibility loci by clinical and pathological characteristics. PLoS Genet (2008) 6.22
CD133(+) and CD133(-) glioblastoma-derived cancer stem cells show differential growth characteristics and molecular profiles. Cancer Res (2007) 6.21
Heritability of mammographic density, a risk factor for breast cancer. N Engl J Med (2002) 6.19
Identification of seven new prostate cancer susceptibility loci through a genome-wide association study. Nat Genet (2009) 6.04
Colon Cancer Family Registry: an international resource for studies of the genetic epidemiology of colon cancer. Cancer Epidemiol Biomarkers Prev (2007) 6.00
Multiple loci with different cancer specificities within the 8q24 gene desert. J Natl Cancer Inst (2008) 5.82
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. Nat Genet (2013) 5.58
Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. Hum Mutat (2008) 5.52
Iron-overload-related disease in HFE hereditary hemochromatosis. N Engl J Med (2008) 5.43
Dissecting the architecture of a quantitative trait locus in yeast. Nature (2002) 5.24
Breast-cancer risk in families with mutations in PALB2. N Engl J Med (2014) 4.97
Systematic screen for human disease genes in yeast. Nat Genet (2002) 4.97
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
The extent of linkage disequilibrium in Arabidopsis thaliana. Nat Genet (2002) 4.96
Gene-panel sequencing and the prediction of breast-cancer risk. N Engl J Med (2015) 4.77
The role of selection in the evolution of human mitochondrial genomes. Genetics (2005) 4.56
Associations of breast cancer risk factors with tumor subtypes: a pooled analysis from the Breast Cancer Association Consortium studies. J Natl Cancer Inst (2010) 4.54
The Breast Cancer Family Registry: an infrastructure for cooperative multinational, interdisciplinary and translational studies of the genetic epidemiology of breast cancer. Breast Cancer Res (2004) 4.54
Common variants at 19p13 are associated with susceptibility to ovarian cancer. Nat Genet (2010) 4.51
A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2. Nat Genet (2009) 4.38
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer. Nat Genet (2013) 4.35
Antihypertensive treatments obscure familial contributions to blood pressure variation. Hypertension (2003) 4.19
Mammographic breast density as an intermediate phenotype for breast cancer. Lancet Oncol (2005) 3.99
Multiple loci on 8q24 associated with prostate cancer susceptibility. Nat Genet (2009) 3.94
Genome-wide association study identifies three loci associated with melanoma risk. Nat Genet (2009) 3.89
A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24. Nat Genet (2010) 3.86
Association between BRCA1 and BRCA2 mutations and survival in women with invasive epithelial ovarian cancer. JAMA (2012) 3.85
Genome-wide association studies identify four ER negative-specific breast cancer risk loci. Nat Genet (2013) 3.81
Common sequence variants on 20q11.22 confer melanoma susceptibility. Nat Genet (2008) 3.79
A back migration from Asia to sub-Saharan Africa is supported by high-resolution analysis of human Y-chromosome haplotypes. Am J Hum Genet (2002) 3.71
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
Chk1 regulates the S phase checkpoint by coupling the physiological turnover and ionizing radiation-induced accelerated proteolysis of Cdc25A. Cancer Cell (2003) 3.58
Genome sequencing and comparative analysis of Saccharomyces cerevisiae strain YJM789. Proc Natl Acad Sci U S A (2007) 3.52
From selenium to selenoproteins: synthesis, identity, and their role in human health. Antioxid Redox Signal (2007) 3.49
Dominant negative ATM mutations in breast cancer families. J Natl Cancer Inst (2002) 3.46