Ten genes for inherited breast cancer.

The DNA damage response: making it safe to play with knives. Mol Cell (2010) 16.13

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

Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene. Nat Genet (2010) 5.48

A survey of tools for variant analysis of next-generation genome sequencing data. Brief Bioinform (2013) 3.60

Detecting rare variants for complex traits using family and unrelated data. Genet Epidemiol (2010) 2.80

Mechanisms of double-strand break repair in somatic mammalian cells. Biochem J (2009) 2.68

Cancer stem cells contribute to cisplatin resistance in Brca1/p53-mediated mouse mammary tumors. Cancer Res (2008) 2.29

RAP80-directed tuning of BRCA1 homologous recombination function at ionizing radiation-induced nuclear foci. Genes Dev (2011) 2.00

Repair of strand breaks by homologous recombination. Cold Spring Harb Perspect Biol (2013) 1.96

Breast cancer susceptibility: current knowledge and implications for genetic counselling. Eur J Hum Genet (2008) 1.82

Enhancement of RAD51 recombinase activity by the tumor suppressor PALB2. Nat Struct Mol Biol (2010) 1.55

Mre11-Sae2 and RPA Collaborate to Prevent Palindromic Gene Amplification. Mol Cell (2015) 1.48

Effect of rare variants in ADRB2 on risk of severe exacerbations and symptom control during longacting β agonist treatment in a multiethnic asthma population: a genetic study. Lancet Respir Med (2014) 1.48

Clinical correlates of low-risk variants in FGFR2, TNRC9, MAP3K1, LSP1 and 8q24 in a Dutch cohort of incident breast cancer cases. Breast Cancer Res (2007) 1.40

Complex Breakpoints and Template Switching Associated with Non-canonical Termination of Homologous Recombination in Mammalian Cells. PLoS Genet (2016) 1.38

Mechanisms of BRCA1 tumor suppression. Cancer Discov (2012) 1.32

Autophagy opposes p53-mediated tumor barrier to facilitate tumorigenesis in a model of PALB2-associated hereditary breast cancer. Cancer Discov (2013) 1.32

Oncogenes and tumor suppressor genes. Cold Spring Harb Perspect Biol (2010) 1.31

DNA double-strand break repair as determinant of cellular radiosensitivity to killing and target in radiation therapy. Front Oncol (2013) 1.30

BRCA1 haploinsufficiency for replication stress suppression in primary cells. Nat Commun (2014) 1.24

Overexpression of RAD51 suppresses recombination defects: a possible mechanism to reverse genomic instability. Nucleic Acids Res (2009) 1.23

Breast cancer-associated missense mutants of the PALB2 WD40 domain, which directly binds RAD51C, RAD51 and BRCA2, disrupt DNA repair. Oncogene (2013) 1.20

RAD51C germline mutations in breast and ovarian cancer patients. Breast Cancer Res (2010) 1.20

DNA helicase and helicase-nuclease enzymes with a conserved iron-sulfur cluster. Nucleic Acids Res (2012) 1.20

Recognition of DNA double strand breaks by the BRCA1 tumor suppressor network. Chromosoma (2008) 1.18

PALB2 mutations in familial breast and pancreatic cancer. Fam Cancer (2011) 1.18

A ChIP-chip approach reveals a novel role for transcription factor IRF1 in the DNA damage response. Nucleic Acids Res (2009) 1.16

Cancer evolution and individual susceptibility. Integr Biol (Camb) (2011) 1.15

Genomic rearrangements in BRCA1 and BRCA2: A literature review. Genet Mol Biol (2009) 1.14

Drosophila brca2 is required for mitotic and meiotic DNA repair and efficient activation of the meiotic recombination checkpoint. PLoS Genet (2008) 1.13

RAD51C germline mutations in breast and ovarian cancer cases from high-risk families. PLoS One (2011) 1.12

The influence of genetic variation in 30 selected genes on the clinical characteristics of early onset breast cancer. Breast Cancer Res (2008) 1.11

Hereditary breast cancer and the BRCA1-associated FANCJ/BACH1/BRIP1. Future Oncol (2011) 1.11

PALB2 sequence variants in young South African breast cancer patients. Fam Cancer (2009) 1.07

Breast cancer-associated Abraxas mutation disrupts nuclear localization and DNA damage response functions. Sci Transl Med (2012) 1.07

Germline genetic variants disturbing the Let-7/LIN28 double-negative feedback loop alter breast cancer susceptibility. PLoS Genet (2011) 1.06

PARP1-driven poly-ADP-ribosylation regulates BRCA1 function in homologous recombination-mediated DNA repair. Cancer Discov (2014) 1.02

RASSF1A polymorphism A133S is associated with early onset breast cancer in BRCA1/2 mutation carriers. Cancer Res (2008) 1.01

PALB2: the hub of a network of tumor suppressors involved in DNA damage responses. Biochim Biophys Acta (2014) 1.01

A Finnish founder mutation in RAD51D: analysis in breast, ovarian, prostate, and colorectal cancer. J Med Genet (2012) 1.01

PALB2 mutations in German and Russian patients with bilateral breast cancer. Breast Cancer Res Treat (2010) 1.01

Comprehensive analysis of BRCA1, BRCA2 and TP53 germline mutation and tumor characterization: a portrait of early-onset breast cancer in Brazil. PLoS One (2013) 0.99

Initiation of DNA double strand break repair: signaling and single-stranded resection dictate the choice between homologous recombination, non-homologous end-joining and alternative end-joining. Am J Cancer Res (2012) 0.99

A novel breast cancer-associated BRIP1 (FANCJ/BACH1) germ-line mutation impairs protein stability and function. Clin Cancer Res (2008) 0.97

Transcriptional responses to estrogen and progesterone in mammary gland identify networks regulating p53 activity. Endocrinology (2008) 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

BRCA1 pathway function in basal-like breast cancer cells. Mol Cell Biol (2014) 0.95

Germline mutation in the RAD51B gene confers predisposition to breast cancer. BMC Cancer (2013) 0.95

Significance of the Fanconi anemia FANCD2 protein in sporadic and metastatic human breast cancer. Am J Pathol (2010) 0.94

Low-risk susceptibility alleles in 40 human breast cancer cell lines. BMC Cancer (2009) 0.94

Tumor hypoxia and genetic alterations in sporadic cancers. J Obstet Gynaecol Res (2011) 0.93

Familial breast cancer - targeted therapy in secondary and tertiary prevention. Breast Care (Basel) (2015) 0.93

Hereditary breast cancer: clinical, pathological and molecular characteristics. Breast Cancer (Auckl) (2014) 0.92

Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer cases. PLoS One (2013) 0.92

Risk-association of five SNPs in TOX3/LOC643714 with breast cancer in southern China. Int J Mol Sci (2014) 0.92

Pharmacogenetics: implications of race and ethnicity on defining genetic profiles for personalized medicine. J Allergy Clin Immunol (2014) 0.92

A novel interplay between the Fanconi anemia core complex and ATR-ATRIP kinase during DNA cross-link repair. Nucleic Acids Res (2013) 0.92

AKT1/BRCA1 in the control of homologous recombination and genetic stability: the missing link between hereditary and sporadic breast cancers. Oncotarget (2010) 0.91

Emerging roles of Jab1/CSN5 in DNA damage response, DNA repair, and cancer. Cancer Biol Ther (2014) 0.89

Identification of a comprehensive spectrum of genetic factors for hereditary breast cancer in a Chinese population by next-generation sequencing. PLoS One (2015) 0.89

The RNF146 and ECHDC1 genes as candidates for inherited breast and ovarian cancer in Jewish Ashkenazi women. Fam Cancer (2009) 0.89

Contribution of BRCA1 germ-line mutations to breast cancer in Greece: a hospital-based study of 987 unselected breast cancer cases. Br J Cancer (2009) 0.89

Identification of germline alterations of the mad homology 2 domain of SMAD3 and SMAD4 from the Ontario site of the breast cancer family registry (CFR). Breast Cancer Res (2011) 0.89

EMSY overexpression disrupts the BRCA2/RAD51 pathway in the DNA-damage response: implications for chromosomal instability/recombination syndromes as checkpoint diseases. Mol Genet Genomics (2011) 0.89

Identification of women with an increased risk of developing radiation-induced breast cancer. Breast Cancer Res (2007) 0.88

Physiological modulation of endogenous BRCA1 p220 abundance suppresses DNA damage during the cell cycle. Genes Dev (2013) 0.88

Mammary cancer susceptibility: human genes and rodent models. Mamm Genome (2007) 0.88

Pathways contributing to development of spontaneous mammary tumors in BALB/c-Trp53+/- mice. Am J Pathol (2010) 0.87

To the rescue: the Fanconi anemia genome stability pathway salvages replication forks. Cancer Cell (2012) 0.87

Ovarian cancer: in search of better marker systems based on DNA repair defects. Int J Mol Sci (2013) 0.87

Identification of a novel CHEK2 variant and assessment of its contribution to the risk of breast cancer in French Canadian women. BMC Cancer (2008) 0.86

Spontaneous slow replication fork progression elicits mitosis alterations in homologous recombination-deficient mammalian cells. Proc Natl Acad Sci U S A (2013) 0.85

Is homologous recombination really an error-free process? Front Genet (2014) 0.85

Kernel-machine testing coupled with a rank-truncation method for genetic pathway analysis. Genet Epidemiol (2014) 0.85

XRCC3 and RAD51 expression are associated with clinical factors in breast cancer. PLoS One (2013) 0.84

Function and mechanism by which interferon regulatory factor-1 inhibits oncogenesis. Oncol Lett (2012) 0.84

Dual inactivation of Hus1 and p53 in the mouse mammary gland results in accumulation of damaged cells and impaired tissue regeneration. Proc Natl Acad Sci U S A (2009) 0.84

SPLUNC1 regulates cell progression and apoptosis through the miR-141-PTEN/p27 pathway, but is hindered by LMP1. PLoS One (2013) 0.84

Analysis of large mutations in BARD1 in patients with breast and/or ovarian cancer: the Polish population as an example. Sci Rep (2015) 0.84

The spectrum of BRCA1 and BRCA2 alleles in Latin America and the Caribbean: a clinical perspective. Breast Cancer Res Treat (2015) 0.83

Joint Analysis of Multiple Traits Using "Optimal" Maximum Heritability Test. PLoS One (2016) 0.83

Genetic polymorphisms in RAD23B and XPC modulate DNA repair capacity and breast cancer risk in Puerto Rican women. Mol Carcinog (2013) 0.83

Cooperativity of Rb, Brca1, and p53 in malignant breast cancer evolution. PLoS Genet (2012) 0.83

A novel approach for haplotype-based association analysis using family data. BMC Bioinformatics (2010) 0.83

The importance of BRCA1 and BRCA2 genes mutations in breast cancer development. Med J Islam Repub Iran (2016) 0.83

The Saccharomyces cerevisiae RAD9, RAD17 and RAD24 genes are required for suppression of mutagenic post-replicative repair during chronic DNA damage. DNA Repair (Amst) (2010) 0.82

Genetic and epigenetic alterations in breast cancer: what are the perspectives for clinical practice? Int J Biochem Cell Biol (2007) 0.82

CHEK2*1100delC does not contribute to risk to breast cancer among Malay, Chinese and Indians in Malaysia. Fam Cancer (2009) 0.82

Association of single nucleotide polymorphisms in Pre-miR-27a, Pre-miR-196a2, Pre-miR-423, miR-608 and Pre-miR-618 with breast cancer susceptibility in a South American population. BMC Genet (2016) 0.81

A novel recurrent CHEK2 Y390C mutation identified in high-risk Chinese breast cancer patients impairs its activity and is associated with increased breast cancer risk. Oncogene (2015) 0.81

The molecular genetics of breast cancer and targeted therapy. Biologics (2007) 0.81

Genetic variation of the brca1 and brca2 genes in macedonian patients. Balkan J Med Genet (2012) 0.81

Adaptive clustering and adaptive weighting methods to detect disease associated rare variants. Eur J Hum Genet (2012) 0.81

A multidisciplinary clinic for individualizing management of patients at increased risk for breast and gynecologic cancer. Fam Cancer (2012) 0.80

CAG repeat variants in the POLG1 gene encoding mtDNA polymerase-gamma and risk of breast cancer in African-American women. PLoS One (2012) 0.80

Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients. BMC Med Genet (2014) 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

What is wrong with Fanconi anemia cells? Cell Cycle (2014) 0.79

TOPBP1 missense variant Arg309Cys and breast cancer in a German hospital-based case-control study. J Negat Results Biomed (2010) 0.79

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

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

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

Schizophrenia: a common disease caused by multiple rare alleles. Br J Psychiatry (2007) 7.00

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

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

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

Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. N Engl J Med (2014) 4.70

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

The lta4h locus modulates susceptibility to mycobacterial infection in zebrafish and humans. Cell (2010) 3.64

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

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

Medicine. The future of psychiatric research: genomes and neural circuits. Science (2010) 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

Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families. Genome Biol (2011) 2.62

DBC2, a candidate for a tumor suppressor gene involved in breast cancer. Proc Natl Acad Sci U S A (2002) 2.58

Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer. Cancer Res (2011) 2.27

Accurate and exact CNV identification from targeted high-throughput sequence data. BMC Genomics (2011) 2.20

From flies' eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30. Proc Natl Acad Sci U S A (2002) 2.17

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

ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing. J Mol Diagn (2012) 1.99

Familial clustering of site-specific cancer risks associated with BRCA1 and BRCA2 mutations in the Ashkenazi Jewish population. Proc Natl Acad Sci U S A (2006) 1.99

BRCA1 transcriptionally regulates genes involved in breast tumorigenesis. Proc Natl Acad Sci U S A (2002) 1.89

Tumor-specific p53 sequences in blood and peritoneal fluid of women with epithelial ovarian cancer. Am J Obstet Gynecol (2005) 1.72

Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families. Eur J Hum Genet (2009) 1.67

Genomic analysis of mental illness: a changing landscape. JAMA (2010) 1.56

MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes. Am J Hum Genet (2010) 1.51

Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome. Am J Hum Genet (2013) 1.50

Reduced transcript expression of genes affected by inherited and de novo CNVs in autism. Eur J Hum Genet (2011) 1.48

Functional characterization of a novel BRCA1-null ovarian cancer cell line in response to ionizing radiation. Mol Cancer Res (2007) 1.40

Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease. Am J Hum Genet (2013) 1.37

Maternal famine, de novo mutations, and schizophrenia. JAMA (2006) 1.35

Genomic duplication and overexpression of TJP2/ZO-2 leads to altered expression of apoptosis genes in progressive nonsyndromic hearing loss DFNA51. Am J Hum Genet (2010) 1.31

Mutations in a novel isoform of TRIOBP that encodes a filamentous-actin binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss. Am J Hum Genet (2005) 1.20

Genetics of congenital deafness in the Palestinian population: multiple connexin 26 alleles with shared origins in the Middle East. Hum Genet (2002) 1.17

Functional and genomic approaches reveal an ancient CHEK2 allele associated with breast cancer in the Ashkenazi Jewish population. Hum Mol Genet (2005) 1.15

BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma. Cancer (2012) 1.14

Mutation of the ATP-gated P2X(2) receptor leads to progressive hearing loss and increased susceptibility to noise. Proc Natl Acad Sci U S A (2013) 1.12

A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss. Am J Hum Genet (2010) 1.11

Formation of chimeric genes by copy-number variation as a mutational mechanism in schizophrenia. Am J Hum Genet (2013) 1.10

Comparative analysis of cancer genes in the human and chimpanzee genomes. BMC Genomics (2006) 1.10

Nonsense mutation of the stereociliar membrane protein gene PTPRQ in human hearing loss DFNB84. J Med Genet (2010) 1.07

Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population. Hum Genomics (2006) 1.06

Loss of function germline mutations in RAD51D in women with ovarian carcinoma. Gynecol Oncol (2012) 1.06

Collaborative genomics for human health and cooperation in the Mediterranean region. Nat Genet (2010) 0.99

Race: a genetic melting-pot. Nature (2003) 0.98

A mouse model for human hearing loss DFNB30 due to loss of function of myosin IIIA. Mamm Genome (2010) 0.96

Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy. Epilepsia (2013) 0.96

A genomewide screen for suppressors of Alu-mediated rearrangements reveals a role for PIF1. PLoS One (2012) 0.96

Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15. Eur J Hum Genet (2008) 0.95

Abundant novel transcriptional units and unconventional gene pairs on human chromosome 22. Genome Res (2005) 0.94

Response to DNA damage of CHEK2 missense mutations in familial breast cancer. Hum Mol Genet (2012) 0.94

International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation. Breast Cancer Res Treat (2010) 0.91

Inherited predisposition to breast cancer among African American women. Breast Cancer Res Treat (2014) 0.88

Genomic sequencing in the service of human rights. Int J Epidemiol (2002) 0.82

Inherited mutation of the luteinizing hormone/choriogonadotropin receptor (LHCGR) in empty follicle syndrome. Fertil Steril (2011) 0.81

Clinical usefulness of genetic information for predicting radiographic damage in rheumatoid arthritis. J Rheumatol (2002) 0.81

Mutant ADA2 in vasculopathies. N Engl J Med (2014) 0.81

FAM111B Mutation Is Associated With Inherited Exocrine Pancreatic Dysfunction. Pancreas (2016) 0.80

Garrod's fourth inborn error of metabolism solved by the identification of mutations causing pentosuria. Proc Natl Acad Sci U S A (2011) 0.77

Germline mutations of inhibins in early-onset ovarian epithelial tumors. Hum Mutat (2013) 0.76

Diamond Blackfan Anemia: A Nonclassical Patient With Diagnosis Assisted by Genomic Analysis. J Pediatr Hematol Oncol (2016) 0.75

Genetics and genomics: a call for papers. Arch Surg (2007) 0.75

Genomic structure of chromosome 17 deletions in BRCA1-associated ovarian cancers. Cancer Genet Cytogenet (2008) 0.75

Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism. J Clin Endocrinol Metab (2015) 0.75

Defining women at high risk of ovarian cancer. Cancer Res (2007) 0.75

Forum: The interplay of genes and environment in psychiatric disorders. Curr Opin Psychiatry (2008) 0.75

Lasker Award winner Mary-Claire King. Nat Med (2014) 0.75

The scientist as world citizen. Science (2012) 0.75