Published in Hum Mol Genet on January 13, 2005
Hereditary breast cancer: new genetic developments, new therapeutic avenues. Hum Genet (2008) 1.96
The Princeton Protein Orthology Database (P-POD): a comparative genomics analysis tool for biologists. PLoS One (2007) 1.83
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
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
A large germline deletion in the Chek2 kinase gene is associated with an increased risk of prostate cancer. J Med Genet (2006) 1.24
Genetics of breast cancer: a topic in evolution. Ann Oncol (2015) 1.15
The 6q22.33 locus and breast cancer susceptibility. Cancer Epidemiol Biomarkers Prev (2009) 1.13
Genetic and functional analysis of CHEK2 (CHK2) variants in multiethnic cohorts. Int J Cancer (2007) 1.09
Associations between single nucleotide polymorphisms in double-stranded DNA repair pathway genes and familial breast cancer. Clin Cancer Res (2009) 1.02
Response to DNA damage of CHEK2 missense mutations in familial breast cancer. Hum Mol Genet (2012) 0.94
Counselling framework for moderate-penetrance cancer-susceptibility mutations. Nat Rev Clin Oncol (2016) 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
Therapeutic potential of stem cells expressing suicide genes that selectively target human breast cancer cells: evidence that they exert tumoricidal effects via tumor tropism (review). Int J Oncol (2012) 0.86
Constitutional CHEK2 mutations are infrequent in early-onset and familial breast/ovarian cancer patients from Pakistan. BMC Cancer (2013) 0.83
CHEK2*1100delC does not contribute to risk to breast cancer among Malay, Chinese and Indians in Malaysia. Fam Cancer (2009) 0.82
Identification and characterization of novel SNPs in CHEK2 in Ashkenazi Jewish men with prostate cancer. Cancer Lett (2008) 0.79
Haplotypes of the I157T CHEK2 germline mutation in ethnically diverse populations. Fam Cancer (2009) 0.77
The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk. NPJ Breast Cancer (2017) 0.75
The CHEK2 1100delC allelic variant is not present in familial and sporadic breast cancer cases from Moroccan population. Springerplus (2015) 0.75
Low prevalence of CHEK2 gene mutations in multiethnic cohorts of breast cancer patients in Malaysia. PLoS One (2015) 0.75
Selected aspects of inherited susceptibility to prostate cancer and tumours of different site of origin. Hered Cancer Clin Pract (2007) 0.75
Association between CHEK2 H371Y mutation and response to neoadjuvant chemotherapy in women with breast cancer. BMC Cancer (2015) 0.75
A Recurrent ERCC3 Truncating Mutation Confers Moderate Risk for Breast Cancer. Cancer Discov (2016) 0.75
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
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
Risk-reducing salpingo-oophorectomy in women with a BRCA1 or BRCA2 mutation. N Engl J Med (2002) 7.84
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
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
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
American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. J Clin Oncol (2010) 4.93
Genome-wide association study provides evidence for a breast cancer risk locus at 6q22.33. Proc Natl Acad Sci U S A (2008) 4.76
Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. N Engl J Med (2014) 4.70
Network modeling links breast cancer susceptibility and centrosome dysfunction. Nat Genet (2007) 4.69
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer. Nat Genet (2013) 4.35
Prediction of germline mutations and cancer risk in the Lynch syndrome. JAMA (2006) 4.34
Rebiopsy of lung cancer patients with acquired resistance to EGFR inhibitors and enhanced detection of the T790M mutation using a locked nucleic acid-based assay. Clin Cancer Res (2011) 4.16
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
Germline mutations in BAP1 predispose to melanocytic tumors. Nat Genet (2011) 3.91
Frequency and distinctive spectrum of KRAS mutations in never smokers with lung adenocarcinoma. Clin Cancer Res (2008) 3.70
The lta4h locus modulates susceptibility to mycobacterial infection in zebrafish and humans. Cell (2010) 3.64
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
Host genotype-specific therapies can optimize the inflammatory response to mycobacterial infections. Cell (2012) 3.54
Risk-reducing salpingo-oophorectomy for the prevention of BRCA1- and BRCA2-associated breast and gynecologic cancer: a multicenter, prospective study. J Clin Oncol (2008) 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
Breast cancer risk following bilateral oophorectomy in BRCA1 and BRCA2 mutation carriers: an international case-control study. J Clin Oncol (2005) 3.44
Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network. Cell (2013) 3.26
MDM2 SNP309 accelerates tumor formation in a gender-specific and hormone-dependent manner. Cancer Res (2006) 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
Oral contraceptives and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst (2002) 3.25
Loss of the tumor suppressor PML in human cancers of multiple histologic origins. J Natl Cancer Inst (2004) 3.17
A germline JAK2 SNP is associated with predisposition to the development of JAK2(V617F)-positive myeloproliferative neoplasms. Nat Genet (2009) 3.10
Research capacity. Enabling the genomic revolution in Africa. Science (2014) 3.05
The Scientific Foundation for personal genomics: recommendations from a National Institutes of Health-Centers for Disease Control and Prevention multidisciplinary workshop. Genet Med (2009) 2.91
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
Outcome of preventive surgery and screening for breast and ovarian cancer in BRCA mutation carriers. J Clin Oncol (2002) 2.80
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
TGFBR1*6A and cancer risk: a meta-analysis of seven case-control studies. J Clin Oncol (2003) 2.68
Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families. Genome Biol (2011) 2.62
New ISSCR guidelines underscore major principles for responsible translational stem cell research. Cell Stem Cell (2008) 2.61
DBC2, a candidate for a tumor suppressor gene involved in breast cancer. Proc Natl Acad Sci U S A (2002) 2.58
Carrier screening for Gaucher disease: lessons for low-penetrance, treatable diseases. JAMA (2007) 2.51
Hereditary cancer predisposition syndromes. J Clin Oncol (2005) 2.49
Genome-wide survey reveals predisposing diabetes type 2-related DNA methylation variations in human peripheral blood. Hum Mol Genet (2011) 2.48
Genetic/familial high-risk assessment: breast and ovarian. J Natl Compr Canc Netw (2010) 2.45
Detection of KRAS and BRAF mutations in colorectal carcinoma roles for high-sensitivity locked nucleic acid-PCR sequencing and broad-spectrum mass spectrometry genotyping. J Mol Diagn (2010) 2.44
EGFR exon 20 insertion mutations in lung adenocarcinomas: prevalence, molecular heterogeneity, and clinicopathologic characteristics. Mol Cancer Ther (2013) 2.43
Cancer survivorship--genetic susceptibility and second primary cancers: research strategies and recommendations. J Natl Cancer Inst (2006) 2.42
Tamoxifen and contralateral breast cancer in BRCA1 and BRCA2 carriers: an update. Int J Cancer (2006) 2.41
Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. PLoS Genet (2013) 2.39
Clinical practice. Management of an inherited predisposition to breast cancer. N Engl J Med (2007) 2.37
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
Heterogenic loss of the wild-type BRCA allele in human breast tumorigenesis. Ann Surg Oncol (2007) 2.19