Published in Cancer Res on February 01, 2011
Breast-cancer risk in families with mutations in PALB2. N Engl J Med (2014) 4.97
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Synthetic lethality of PARP inhibition in cancers lacking BRCA1 and BRCA2 mutations. Cell Cycle (2011) 1.65
Autophagy opposes p53-mediated tumor barrier to facilitate tumorigenesis in a model of PALB2-associated hereditary breast cancer. Cancer Discov (2013) 1.32
PALB2 interacts with KEAP1 to promote NRF2 nuclear accumulation and function. Mol Cell Biol (2012) 1.30
Rare germline mutations in PALB2 and breast cancer risk: a population-based study. Hum Mutat (2012) 1.26
Breast cancer-associated missense mutants of the PALB2 WD40 domain, which directly binds RAD51C, RAD51 and BRCA2, disrupt DNA repair. Oncogene (2013) 1.20
Prevalence of PALB2 mutations in Australasian multiple-case breast cancer families. Breast Cancer Res (2013) 1.09
Breast cancer-associated Abraxas mutation disrupts nuclear localization and DNA damage response functions. Sci Transl Med (2012) 1.07
Loss of function germline mutations in RAD51D in women with ovarian carcinoma. Gynecol Oncol (2012) 1.06
Novel germline PALB2 truncating mutations in African American breast cancer patients. Cancer (2011) 1.05
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Heterozygous mutations in PALB2 cause DNA replication and damage response defects. Nat Commun (2013) 1.02
Plasticity of BRCA2 function in homologous recombination: genetic interactions of the PALB2 and DNA binding domains. PLoS Genet (2011) 1.02
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Routine testing for PALB2 mutations in familial pancreatic cancer families and breast cancer families with pancreatic cancer is not indicated. Eur J Hum Genet (2011) 0.97
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Mutation analysis of BRCA1, BRCA2, PALB2 and BRD7 in a hospital-based series of German patients with triple-negative breast cancer. PLoS One (2012) 0.94
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Contribution of germline mutations in the BRCA and PALB2 genes to pancreatic cancer in Italy. Fam Cancer (2012) 0.92
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Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer cases. PLoS One (2013) 0.92
Inherited pancreatic cancer syndromes. Cancer J (2012) 0.90
Palb2 synergizes with Trp53 to suppress mammary tumor formation in a model of inherited breast cancer. Proc Natl Acad Sci U S A (2013) 0.89
Male fertility defect associated with disrupted BRCA1-PALB2 interaction in mice. J Biol Chem (2014) 0.89
Tumour morphology predicts PALB2 germline mutation status. Br J Cancer (2013) 0.85
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Contribution of the PALB2 c.2323C>T [p.Q775X] founder mutation in well-defined breast and/or ovarian cancer families and unselected ovarian cancer cases of French Canadian descent. BMC Med Genet (2013) 0.84
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Analysis of PALB2 mutations in 155 Japanese patients with breast and/or ovarian cancer. Int J Clin Oncol (2015) 0.84
The incidence of PALB2 c.3113G>A in women with a strong family history of breast and ovarian cancer attending familial cancer centres in Australia. Fam Cancer (2013) 0.82
Requirement of heterogeneous nuclear ribonucleoprotein C for BRCA gene expression and homologous recombination. PLoS One (2013) 0.81
Hereditary ovarian cancer: not only BRCA 1 and 2 genes. Biomed Res Int (2015) 0.81
Mutation analysis of PALB2 in BRCA1 and BRCA2-negative breast and/or ovarian cancer families from Eastern Ontario, Canada. Hered Cancer Clin Pract (2014) 0.81
Prevalence of PALB2 mutation c.509_510delGA in unselected breast cancer patients from Central and Eastern Europe. Fam Cancer (2014) 0.81
A multidisciplinary clinic for individualizing management of patients at increased risk for breast and gynecologic cancer. Fam Cancer (2012) 0.80
Heterozygous PALB2 c.1592delT mutation channels DNA double-strand break repair into error-prone pathways in breast cancer patients. Oncogene (2015) 0.79
Genomic/Epigenomic Alterations in Ovarian Carcinoma: Translational Insight into Clinical Practice. J Cancer (2016) 0.78
Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls. Breast Cancer Res (2015) 0.78
Association of PALB2 sequence variants with the risk of familial and early-onset breast cancer in a South-American population. BMC Cancer (2015) 0.78
Genetic and molecular changes in ovarian cancer. Cancer Biol Med (2016) 0.78
Assessment of PALB2 as a candidate melanoma susceptibility gene. PLoS One (2014) 0.77
Characterization of a novel germline PALB2 duplication in a hereditary breast and ovarian cancer family. Breast Cancer Res Treat (2016) 0.77
A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer. BMC Med Genomics (2016) 0.76
Compromised BRCA1-PALB2 interaction is associated with breast cancer risk. Oncogene (2017) 0.76
Pathogenic PALB2 mutation in metastatic pancreatic adenocarcinoma and neuroendocrine tumour: A case report. Mol Clin Oncol (2015) 0.76
Primary Peritoneal Carcinoma in a BRCA1/2-negative, PALB2-positive patient. Gynecol Oncol Rep (2016) 0.75
Partner and Localizer of BRCA-2 (PALB-2) Mutation Analysis Is Rapidly Being Adopted into Clinical Practice. J Breast Health (2013) (2014) 0.75
PALB2 mutations and breast-cancer risk. N Engl J Med (2014) 0.75
PALB2: research reaching to clinical outcomes for women with breast cancer. Hered Cancer Clin Pract (2016) 0.75
Genetic evaluation and testing for hereditary forms of cancer in the era of next-generation sequencing. Cancer Biol Med (2016) 0.75
Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results. Breast Cancer Res Treat (2016) 0.75
PALB2 mutations in breast cancer patients from a multi-ethnic region in northwest China. Eur J Med Res (2015) 0.75
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Pioneering geneticist Mary-Claire King receives the 2014 Lasker~Koshland Special Achievement Award in Medical Science. J Clin Invest (2014) 0.75
Inherited and acquired alterations in development of breast cancer. Appl Clin Genet (2011) 0.75
Development of a novel PTT assay for mutation detection in PALB2 large exons and PALB2 screening in medullary breast cancer. Fam Cancer (2016) 0.75
The Role of PALB2 in the DNA Damage Response and Cancer Predisposition. Int J Mol Sci (2017) 0.75
Analysis of PALB2 in a cohort of Italian breast cancer patients: identification of a novel PALB2 truncating mutation. Fam Cancer (2015) 0.75
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PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat Genet (2006) 9.17
Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene. Science (2009) 7.39
Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2. Mol Cell (2006) 7.33
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Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer. JAMA (2006) 5.51
A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes. Am J Hum Genet (2007) 5.17
Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer. Nat Genet (2006) 5.12
Fanconi anemia is associated with a defect in the BRCA2 partner PALB2. Nat Genet (2006) 4.98
A recurrent mutation in PALB2 in Finnish cancer families. Nature (2007) 4.64
A synthetic lethal therapeutic approach: poly(ADP) ribose polymerase inhibitors for the treatment of cancers deficient in DNA double-strand break repair. J Clin Oncol (2008) 3.59
The current landscape for direct-to-consumer genetic testing: legal, ethical, and policy issues. Annu Rev Genomics Hum Genet (2008) 2.81
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Statement of the ESHG on direct-to-consumer genetic testing for health-related purposes. Eur J Hum Genet (2010) 2.65
Analysis of PALB2/FANCN-associated breast cancer families. Proc Natl Acad Sci U S A (2007) 2.41
The molecular pathogenesis of hereditary ovarian carcinoma: alterations in the tubal epithelium of women with BRCA1 and BRCA2 mutations. Cancer (2010) 2.13
PALB2/FANCN: recombining cancer and Fanconi anemia. Cancer Res (2010) 2.07
Identification of a novel truncating PALB2 mutation and analysis of its contribution to early-onset breast cancer in French-Canadian women. Breast Cancer Res (2007) 2.00
Analysis of FANCB and FANCN/PALB2 fanconi anemia genes in BRCA1/2-negative Spanish breast cancer families. Breast Cancer Res Treat (2008) 1.72
Penetrance analysis of the PALB2 c.1592delT founder mutation. Clin Cancer Res (2008) 1.65
Discovering moderate-risk breast cancer susceptibility genes. Curr Opin Genet Dev (2010) 1.43
Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study. Hum Mutat (2010) 1.40
A novel germline PALB2 deletion in Polish breast and ovarian cancer patients. BMC Med Genet (2010) 1.34
The prevalence of PALB2 germline mutations in BRCA1/BRCA2 negative Chinese women with early onset breast cancer or affected relatives. Breast Cancer Res Treat (2008) 1.23
Testing for CHEK2 in the cancer genetics clinic: ready for prime time? Clin Genet (2010) 1.13
A PALB2 germline mutation associated with hereditary breast cancer in Italy. Fam Cancer (2009) 1.07
PALB2 sequence variants in young South African breast cancer patients. Fam Cancer (2009) 1.07
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature (2007) 75.09
Strong association of de novo copy number mutations with autism. Science (2007) 27.84
Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science (2008) 20.68
The accessible chromatin landscape of the human genome. Nature (2012) 16.86
Systematic localization of common disease-associated variation in regulatory DNA. Science (2012) 14.47
The NIH Roadmap Epigenomics Mapping Consortium. Nat Biotechnol (2010) 13.99
Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science (2003) 13.19
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med (2008) 10.88
Genetic heterogeneity in human disease. Cell (2010) 10.67
Global mapping of protein-DNA interactions in vivo by digital genomic footprinting. Nat Methods (2009) 10.17
Quantifying similarity between motifs. Genome Biol (2007) 9.27
ChIP-seq guidelines and practices of the ENCODE and modENCODE consortia. Genome Res (2012) 9.13
Genome-scale mapping of DNase I sensitivity in vivo using tiling DNA microarrays. Nat Methods (2006) 8.52
An expansive human regulatory lexicon encoded in transcription factor footprints. Nature (2012) 7.27
Schizophrenia: a common disease caused by multiple rare alleles. Br J Psychiatry (2007) 7.00
Chromatin accessibility pre-determines glucocorticoid receptor binding patterns. Nat Genet (2011) 6.98
Comprehensive analysis of the chromatin landscape in Drosophila melanogaster. Nature (2010) 6.87
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet (2010) 6.62
Microduplications of 16p11.2 are associated with schizophrenia. Nat Genet (2009) 6.13
Power of deep, all-exon resequencing for discovery of human trait genes. Proc Natl Acad Sci U S A (2009) 5.61
Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing. Proc Natl Acad Sci U S A (2010) 5.60
Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer. JAMA (2006) 5.51
Nucleosome positioning signals in genomic DNA. Genome Res (2007) 4.99
Breast-cancer risk in families with mutations in PALB2. N Engl J Med (2014) 4.97
Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82. Am J Hum Genet (2010) 4.95
Sequencing newly replicated DNA reveals widespread plasticity in human replication timing. Proc Natl Acad Sci U S A (2009) 4.76
Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. N Engl J Med (2014) 4.70
An encyclopedia of mouse DNA elements (Mouse ENCODE). Genome Biol (2012) 4.15
Actionable, pathogenic incidental findings in 1,000 participants' exomes. Am J Hum Genet (2013) 4.06
Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. Proc Natl Acad Sci U S A (2011) 3.99
Comprehensive epigenetic profiling identifies multiple distal regulatory elements directing transcription of the gene encoding interferon-gamma. Nat Immunol (2007) 3.72
The lta4h locus modulates susceptibility to mycobacterial infection in zebrafish and humans. Cell (2010) 3.64
Dynamic DNA methylation across diverse human cell lines and tissues. Genome Res (2013) 3.61
Discovery of functional noncoding elements by digital analysis of chromatin structure. Proc Natl Acad Sci U S A (2004) 3.59
Host genotype-specific therapies can optimize the inflammatory response to mycobacterial infections. Cell (2012) 3.54
Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia. Nature (2011) 3.51
Ten genes for inherited breast cancer. Cancer Cell (2007) 3.45
Interaction of the glucocorticoid receptor with the chromatin landscape. Mol Cell (2008) 3.42
Defining functional DNA elements in the human genome. Proc Natl Acad Sci U S A (2014) 3.35
Unsupervised segmentation of continuous genomic data. Bioinformatics (2007) 3.35
Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network. Cell (2013) 3.26
Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas. Clin Cancer Res (2013) 3.25
Research capacity. Enabling the genomic revolution in Africa. Science (2014) 3.05
Dynamic exchange at regulatory elements during chromatin remodeling underlies assisted loading mechanism. Cell (2011) 3.00
High-throughput localization of functional elements by quantitative chromatin profiling. Nat Methods (2004) 2.98
Transcription factor AP1 potentiates chromatin accessibility and glucocorticoid receptor binding. Mol Cell (2011) 2.97
Genome-wide identification of DNaseI hypersensitive sites using active chromatin sequence libraries. Proc Natl Acad Sci U S A (2004) 2.94
Quality of life after total laparoscopic hysterectomy versus total abdominal hysterectomy for stage I endometrial cancer (LACE): a randomised trial. Lancet Oncol (2010) 2.89
Medicine. The future of psychiatric research: genomes and neural circuits. Science (2010) 2.79
Foxp3 exploits a pre-existent enhancer landscape for regulatory T cell lineage specification. Cell (2012) 2.79
Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome. Am J Hum Genet (2010) 2.76
An erythroid enhancer of BCL11A subject to genetic variation determines fetal hemoglobin level. Science (2013) 2.71
Widely distributed noncoding purifying selection in the human genome. Proc Natl Acad Sci U S A (2007) 2.71
The human mitochondrial transcriptome. Cell (2011) 2.70
The role of chromatin accessibility in directing the widespread, overlapping patterns of Drosophila transcription factor binding. Genome Biol (2011) 2.68
Quantitative models of the mechanisms that control genome-wide patterns of transcription factor binding during early Drosophila development. PLoS Genet (2011) 2.65
BEDOPS: high-performance genomic feature operations. Bioinformatics (2012) 2.62
Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families. Genome Biol (2011) 2.62
Identification of higher-order functional domains in the human ENCODE regions. Genome Res (2007) 2.62
DBC2, a candidate for a tumor suppressor gene involved in breast cancer. Proc Natl Acad Sci U S A (2002) 2.58
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Widespread plasticity in CTCF occupancy linked to DNA methylation. Genome Res (2012) 2.45
CCCTC-binding factor and the transcription factor T-bet orchestrate T helper 1 cell-specific structure and function at the interferon-gamma locus. Immunity (2009) 2.24
Accurate and exact CNV identification from targeted high-throughput sequence data. BMC Genomics (2011) 2.20
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Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome. Proc Natl Acad Sci U S A (2011) 2.11
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