Published in Nat Genet on July 09, 2006
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
ATR: an essential regulator of genome integrity. Nat Rev Mol Cell Biol (2008) 11.86
PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat Genet (2006) 9.17
A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1). Nat Genet (2009) 8.39
Breast-cancer risk in families with mutations in PALB2. N Engl J Med (2014) 4.97
Gene-panel sequencing and the prediction of breast-cancer risk. N Engl J Med (2015) 4.77
The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions. Br J Cancer (2008) 3.87
Germline mutations in RAD51D confer susceptibility to ovarian cancer. Nat Genet (2011) 3.25
Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment. J Clin Oncol (2014) 3.12
A synthetic lethal siRNA screen identifying genes mediating sensitivity to a PARP inhibitor. EMBO J (2008) 2.95
Genetic variants associated with breast-cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence. Lancet Oncol (2011) 2.85
Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications. Hum Mutat (2008) 2.69
Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer. Nature (2012) 2.66
Genetic susceptibility to breast cancer. Mol Oncol (2010) 2.52
Architecture of inherited susceptibility to common cancer. Nat Rev Cancer (2010) 2.14
A minimally invasive assay for individual assessment of the ATM/CHEK2/p53 pathway activity. Cell Cycle (2011) 2.13
Evaluation of the current knowledge limitations in breast cancer research: a gap analysis. Breast Cancer Res (2008) 2.06
Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer. Am J Hum Genet (2009) 2.02
Hereditary breast cancer: new genetic developments, new therapeutic avenues. Hum Genet (2008) 1.96
Radiation exposure, the ATM Gene, and contralateral breast cancer in the women's environmental cancer and radiation epidemiology study. J Natl Cancer Inst (2010) 1.91
Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. Gastroenterology (2015) 1.84
Breast cancer susceptibility: current knowledge and implications for genetic counselling. Eur J Hum Genet (2008) 1.82
Genetic susceptibility loci for breast cancer by estrogen receptor status. Clin Cancer Res (2008) 1.72
A PALB2 mutation associated with high risk of breast cancer. Breast Cancer Res (2010) 1.68
Pathway analysis of breast cancer genome-wide association study highlights three pathways and one canonical signaling cascade. Cancer Res (2010) 1.51
Germline mutations in shelterin complex genes are associated with familial chronic lymphocytic leukemia. Blood (2016) 1.47
Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening study. Breast Cancer Res (2011) 1.45
Are the so-called low penetrance breast cancer genes, ATM, BRIP1, PALB2 and CHEK2, high risk for women with strong family histories? Breast Cancer Res (2008) 1.44
Detection of ATM germline variants by the p53 mitotic centrosomal localization test in BRCA1/2-negative patients with early-onset breast cancer. J Exp Clin Cancer Res (2016) 1.37
Rare variants in the ATM gene and risk of breast cancer. Breast Cancer Res (2011) 1.36
6-thioguanine selectively kills BRCA2-defective tumors and overcomes PARP inhibitor resistance. Cancer Res (2010) 1.29
Pathology of hereditary breast cancer. Cell Oncol (Dordr) (2011) 1.28
Cyclin-dependent kinase 2 dependent phosphorylation of ATRIP regulates the G2-M checkpoint response to DNA damage. Cancer Res (2007) 1.27
Identification of novel high-frequency DNA methylation changes in breast cancer. PLoS One (2007) 1.22
Common variants in the ATM, BRCA1, BRCA2, CHEK2 and TP53 cancer susceptibility genes are unlikely to increase breast cancer risk. Breast Cancer Res (2007) 1.22
ATM gene mutations result in both recessive and dominant expression phenotypes of genes and microRNAs. Am J Hum Genet (2008) 1.21
BOADICEA breast cancer risk prediction model: updates to cancer incidences, tumour pathology and web interface. Br J Cancer (2013) 1.19
Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk. Hum Mutat (2009) 1.18
Genetic determinants at the interface of cancer and neurodegenerative disease. Oncogene (2010) 1.17
ATM-mediated serine 72 phosphorylation stabilizes ribonucleotide reductase small subunit p53R2 protein against MDM2 to DNA damage. Proc Natl Acad Sci U S A (2008) 1.17
Genetics of breast cancer: a topic in evolution. Ann Oncol (2015) 1.15
Predisposition gene identification in common cancers by exome sequencing: insights from familial breast cancer. Breast Cancer Res Treat (2012) 1.15
Single nucleotide polymorphism D1853N of the ATM gene may alter the risk for breast cancer. J Cancer Res Clin Oncol (2008) 1.13
Family history, genetic testing, and clinical risk prediction: pooled analysis of CHEK2 1100delC in 1,828 bilateral breast cancers and 7,030 controls. Cancer Epidemiol Biomarkers Prev (2009) 1.13
Prospective study of Outcomes in Sporadic versus Hereditary breast cancer (POSH): study protocol. BMC Cancer (2007) 1.12
Association of single-nucleotide polymorphisms in the cell cycle genes with breast cancer in the British population. Carcinogenesis (2008) 1.11
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
Description and validation of high-throughput simultaneous genotyping and mutation scanning by high-resolution melting curve analysis. Hum Mutat (2009) 1.08
Mutations in RECQL Gene Are Associated with Predisposition to Breast Cancer. PLoS Genet (2015) 1.08
Potential novel candidate polymorphisms identified in genome-wide association study for breast cancer susceptibility. Hum Genet (2011) 1.08
"Pseudodominant inheritance" of ataxia with ocular apraxia type 2 (AOA2). J Neurol (2008) 1.08
Deep congenic analysis identifies many strong, context-dependent QTLs, one of which, Slc35b4, regulates obesity and glucose homeostasis. Genome Res (2011) 1.06
Newborn screening for SCID identifies patients with ataxia telangiectasia. J Clin Immunol (2012) 1.05
The spectrum of ATM missense variants and their contribution to contralateral breast cancer. Breast Cancer Res Treat (2007) 1.03
Variants in the ATM gene associated with a reduced risk of contralateral breast cancer. Cancer Res (2008) 1.00
Familial relative risks for breast cancer by pathological subtype: a population-based cohort study. Breast Cancer Res (2010) 1.00
Hereditary breast cancer: ever more pieces to the polygenic puzzle. Hered Cancer Clin Pract (2013) 0.99
Pancreatic endocrine tumours: mutational and immunohistochemical survey of protein kinases reveals alterations in targetable kinases in cancer cell lines and rare primaries. Ann Oncol (2011) 0.99
PTEN in DNA damage repair. Cancer Lett (2012) 0.98
The importance of p53 pathway genetics in inherited and somatic cancer genomes. Nat Rev Cancer (2016) 0.98
Polygenic susceptibility to breast cancer: current state-of-the-art. Future Oncol (2009) 0.98
CHEK2 contribution to hereditary breast cancer in non-BRCA families. Breast Cancer Res (2011) 0.97
A novel breast cancer-associated BRIP1 (FANCJ/BACH1) germ-line mutation impairs protein stability and function. Clin Cancer Res (2008) 0.97
Gene-gene interactions in breast cancer susceptibility. Hum Mol Genet (2011) 0.97
Assessing SNP-SNP interactions among DNA repair, modification and metabolism related pathway genes in breast cancer susceptibility. PLoS One (2013) 0.96
Low levels of ATM in breast cancer patients with clinical radiosensitivity. Genome Integr (2010) 0.96
COGENT (COlorectal cancer GENeTics) revisited. Mutagenesis (2012) 0.96
Identification of Novel Susceptibility Genes for Breast Cancer - Genome-Wide Association Studies or Evaluation of Candidate Genes? Breast Care (Basel) (2009) 0.96
Caffeine promotes ultraviolet B-induced apoptosis in human keratinocytes without complete DNA repair. J Biol Chem (2011) 0.94
Hereditary breast and ovarian cancer: new genes in confined pathways. Nat Rev Cancer (2016) 0.94
Low-risk susceptibility alleles in 40 human breast cancer cell lines. BMC Cancer (2009) 0.94
Comprehensive analysis of the ATM, CHEK2 and ERBB2 genes in relation to breast tumour characteristics and survival: a population-based case-control and follow-up study. Breast Cancer Res (2006) 0.93
Molecular targets and mechanisms of radiosensitization using DNA damage response pathways. Future Oncol (2013) 0.93
Association of breast cancer risk with genetic variants showing differential allelic expression: Identification of a novel breast cancer susceptibility locus at 4q21. Oncotarget (2016) 0.93
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
Identification of personal risk of breast cancer: genetics. Breast Cancer Res (2008) 0.92
Deregulation of XPC and CypA by cyclosporin A: an immunosuppression-independent mechanism of skin carcinogenesis. Cancer Prev Res (Phila) (2012) 0.92
Association of common ATM variants with familial breast cancer in a South American population. BMC Cancer (2008) 0.92
Novel insights into breast cancer genetic variance through RNA sequencing. Sci Rep (2013) 0.92
Missense variants in ATM in 26,101 breast cancer cases and 29,842 controls. Cancer Epidemiol Biomarkers Prev (2010) 0.91
Loss-of-function variants in ATM confer risk of gastric cancer. Nat Genet (2015) 0.91
Mutation analysis and characterization of ATR sequence variants in breast cancer cases from high-risk French Canadian breast/ovarian cancer families. BMC Cancer (2006) 0.90
Having pancreatic cancer with tumoral loss of ATM and normal TP53 protein expression is associated with a poorer prognosis. Clin Cancer Res (2014) 0.89
Growing recognition of the role for rare missense substitutions in breast cancer susceptibility. Biomark Med (2014) 0.89
Ataxia telangiectasia mutated (ATM) inhibition transforms human mammary gland epithelial cells. J Biol Chem (2010) 0.89
Ataxia telangiectasia: a review. Orphanet J Rare Dis (2016) 0.88
Inherited predisposition to breast cancer among African American women. Breast Cancer Res Treat (2014) 0.88
Estimating causal effects of genetic risk variants for breast cancer using marker data from bilateral and familial cases. Cancer Epidemiol Biomarkers Prev (2011) 0.88
Disease-associated MRE11 mutants impact ATM/ATR DNA damage signaling by distinct mechanisms. Hum Mol Genet (2013) 0.88
Germline mutation in ATR in autosomal- dominant oropharyngeal cancer syndrome. Am J Hum Genet (2012) 0.88
Fine-mapping identifies two additional breast cancer susceptibility loci at 9q31.2. Hum Mol Genet (2015) 0.88
Genome-wide association study of breast cancer in the Japanese population. PLoS One (2013) 0.87
The association between ATM D1853N polymorphism and breast cancer susceptibility: a meta-analysis. J Exp Clin Cancer Res (2010) 0.87
Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours. Br J Cancer (2011) 0.87
BRCA genetic screening in Middle Eastern and North African: mutational spectrum and founder BRCA1 mutation (c.798_799delTT) in North African. Dis Markers (2015) 0.87
Severe reaction to radiotherapy for breast cancer as the presenting feature of ataxia telangiectasia. Br J Cancer (2011) 0.87
Atm is a negative regulator of intestinal neoplasia. Oncogene (2007) 0.86
Ataxia telangiectasia presenting as dopa-responsive cervical dystonia. Neurology (2013) 0.86
Mutations of the BRAF gene in human cancer. Nature (2002) 65.42
Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing. Nat Genet (2008) 43.63
Patterns of somatic mutation in human cancer genomes. Nature (2007) 38.41
A census of human cancer genes. Nat Rev Cancer (2004) 36.20
Genome-wide association study identifies novel breast cancer susceptibility loci. Nature (2007) 29.23
COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer. Nucleic Acids Res (2010) 25.55
A comprehensive catalogue of somatic mutations from a human cancer genome. Nature (2009) 24.27
Signatures of mutational processes in human cancer. Nature (2013) 21.63
International network of cancer genome projects. Nature (2010) 20.35
A small-cell lung cancer genome with complex signatures of tobacco exposure. Nature (2009) 18.39
Massive genomic rearrangement acquired in a single catastrophic event during cancer development. Cell (2011) 16.72
Systematic identification of genomic markers of drug sensitivity in cancer cells. Nature (2012) 15.91
Multiple newly identified loci associated with prostate cancer susceptibility. Nat Genet (2008) 15.43
Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes. Nature (2010) 14.50
Inhibition of mTOR induces autophagy and reduces toxicity of polyglutamine expansions in fly and mouse models of Huntington disease. Nat Genet (2004) 14.31
Complex landscapes of somatic rearrangement in human breast cancer genomes. Nature (2009) 13.45
Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma. Nature (2011) 13.30
Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia. Nature (2011) 13.18
Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants. Nat Genet (2007) 12.62
The patterns and dynamics of genomic instability in metastatic pancreatic cancer. Nature (2010) 12.43
Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature (2010) 12.27
The landscape of cancer genes and mutational processes in breast cancer. Nature (2012) 11.24
Mutational processes molding the genomes of 21 breast cancers. Cell (2012) 11.22
The life history of 21 breast cancers. Cell (2012) 10.59
Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer. Nat Genet (2009) 10.21
Signatures of mutation and selection in the cancer genome. Nature (2010) 9.75
Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat Genet (2002) 9.71
Polygenes, risk prediction, and targeted prevention of breast cancer. N Engl J Med (2008) 9.64
COSMIC (the Catalogue of Somatic Mutations in Cancer): a resource to investigate acquired mutations in human cancer. Nucleic Acids Res (2009) 9.59
PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat Genet (2006) 9.17
Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. JAMA (2010) 8.93
Polygenic susceptibility to breast cancer and implications for prevention. Nat Genet (2002) 8.89
BRAF and RAS mutations in human lung cancer and melanoma. Cancer Res (2002) 8.55
Lung cancer: intragenic ERBB2 kinase mutations in tumours. Nature (2004) 8.35
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nat Genet (2009) 8.30
Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat Genet (2013) 8.24
JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis. N Engl J Med (2007) 8.18
Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. Nat Genet (2006) 7.72
Somatic mutations of the protein kinase gene family in human lung cancer. Cancer Res (2005) 7.66
Genome-wide association study identifies five new breast cancer susceptibility loci. Nat Genet (2010) 7.62