Published in N Engl J Med on May 15, 1997
Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases. Anglian Breast Cancer Study Group. Br J Cancer (2000) 4.37
BRCA1 and BRCA2: different roles in a common pathway of genome protection. Nat Rev Cancer (2011) 3.85
A new scoring system for the chances of identifying a BRCA1/2 mutation outperforms existing models including BRCAPRO. J Med Genet (2004) 3.10
BRCA genes--bookmaking, fortunetelling, and medical care. N Engl J Med (1997) 2.23
BRCA2 T2722R is a deleterious allele that causes exon skipping. Am J Hum Genet (2002) 1.80
Truncated BRCA2 is cytoplasmic: implications for cancer-linked mutations. Proc Natl Acad Sci U S A (1999) 1.54
High proportion of recurrent germline mutations in the BRCA1 gene in breast and ovarian cancer patients from the Prague area. Breast Cancer Res (2005) 1.19
Genetic and functional analysis of CHEK2 (CHK2) variants in multiethnic cohorts. Int J Cancer (2007) 1.09
Breast MR imaging in women at high-risk of breast cancer. Is something changing in early breast cancer detection? Eur Radiol (2006) 1.07
The genetic epidemiology of early-onset epithelial ovarian cancer: a population-based study. Am J Hum Genet (1999) 1.06
Genetic counselling and testing for inherited gene mutations in newly diagnosed patients with breast cancer: a review of the existing literature and a proposed research agenda. Breast Cancer Res (2008) 1.05
Potentiation of temozolomide cytotoxicity by inhibition of DNA polymerase beta is accentuated by BRCA2 mutation. Cancer Res (2009) 1.02
Hereditary breast cancer in Jews. Fam Cancer (2004) 0.99
Genetic susceptibility to breast cancer: HLA DQB*03032 and HLA DRB1*11 may represent protective alleles. Proc Natl Acad Sci U S A (2000) 0.97
Cancer risk in close relatives of women with early-onset breast cancer--a population-based incidence study. Br J Cancer (1999) 0.94
Characteristics of small breast and/or ovarian cancer families with germline mutations in BRCA1 and BRCA2. Br J Cancer (1999) 0.93
Long-term outcomes of breast cancer in women aged 30 years or younger, based on family history, pathology and BRCA1/BRCA2/TP53 status. Br J Cancer (2010) 0.92
BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers. J Natl Cancer Inst (2015) 0.90
Breast tumor characteristics of BRCA1 and BRCA2 gene mutation carriers on MRI. Eur Radiol (2008) 0.88
BRCA1 and BRCA2 mutations in central and southern Italian patients. Breast Cancer Res (2000) 0.88
Familial and sporadic pancreatic cancer share the same molecular pathogenesis. Fam Cancer (2015) 0.87
Expression of estrogen receptor beta in the breast carcinoma of BRCA1 mutation carriers. BMC Cancer (2008) 0.84
Fanconi anemia and biallelic BRCA2 mutation diagnosed in a young child with an embryonal CNS tumor. Pediatr Blood Cancer (2009) 0.82
BRCA1 and BRCA2 testing: weighing the demand against the benefits. Am J Hum Genet (1999) 0.81
Frequent allelic losses at 11q24.1-q25 in young women with breast cancer: association with poor survival. Br J Cancer (1999) 0.80
BRCA1, BRCA2 and PALB2 mutations and CHEK2 c.1100delC in different South African ethnic groups diagnosed with premenopausal and/or triple negative breast cancer. BMC Cancer (2015) 0.80
Familial association of pancreatic cancer with other malignancies in Swedish families. Br J Cancer (2009) 0.76
Recent developments and translational aspects in targeted therapy for metastatic breast cancer. ESMO Open (2016) 0.76
An integrated inspection of the somatic mutations in a lung squamous cell carcinoma using next-generation sequencing. PLoS One (2013) 0.76
DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development. Cell (1999) 25.75
hEST2, the putative human telomerase catalytic subunit gene, is up-regulated in tumor cells and during immortalization. Cell (1997) 8.74
Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms' tumor locus. Cell (1990) 8.30
Correcting for noncompliance and dependent censoring in an AIDS Clinical Trial with inverse probability of censoring weighted (IPCW) log-rank tests. Biometrics (2000) 6.19
Specific genetic predictors of chemotherapeutic response and survival in patients with anaplastic oligodendrogliomas. J Natl Cancer Inst (1998) 5.30
Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome. Science (1999) 5.09
BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function. Cell (2001) 5.05
Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. Cell (1999) 4.87
Epithelioid cell cultures from rat small intestine. Characterization by morphologic and immunologic criteria. J Cell Biol (1979) 4.86
Viral antibodies in diabetes mellitus. Br Med J (1969) 4.84
Glucose transport in isolated brush border membrane from rat small intestine. J Biol Chem (1973) 4.75
Rapid colorectal adenoma formation initiated by conditional targeting of the Apc gene. Science (1997) 4.62
Computer-based interview for screening blood donors for risk of HIV transmission. JAMA (1992) 4.01
Enzyme structure with two catalytic sites for double-sieve selection of substrate. Science (1998) 3.92
Linkage of cystic fibrosis to two tightly linked DNA markers: joint report from a collaborative study. Am J Hum Genet (1986) 3.83
Rat intestinal microvillus membranes. Purification and biochemical characterization. Biochem J (1968) 3.66
Heterozygous ATM mutations do not contribute to early onset of breast cancer. Nat Genet (1997) 3.66
A proportional hazards model for interval-censored failure time data. Biometrics (1986) 3.64
Archipelago regulates Cyclin E levels in Drosophila and is mutated in human cancer cell lines. Nature (2001) 3.50
Exon amplification: a strategy to isolate mammalian genes based on RNA splicing. Proc Natl Acad Sci U S A (1991) 3.43
Uptake and transport of macromolecules by the intestine. Possible role in clinical disorders. Gastroenterology (1974) 3.33
The pathogenesis of arthritis associated with viral hepatitis. Complement-component studies. N Engl J Med (1971) 3.31
Cloning and functional analysis of human p51, which structurally and functionally resembles p53. Nat Med (1998) 3.23
Frequency of recurrent BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer families. Nat Med (1996) 3.07
Germ-line BRCA1 mutations in Jewish and non-Jewish women with early-onset breast cancer. N Engl J Med (1996) 3.04
Induction of GADD45 and JNK/SAPK-dependent apoptosis following inducible expression of BRCA1. Cell (1999) 2.92
Intestinal uptake of macromolecules: effect of oral immunization. Science (1972) 2.80
Abnormal structure and expression of p53 gene in human hepatocellular carcinoma. Proc Natl Acad Sci U S A (1990) 2.59
Expression of TERT in early premalignant lesions and a subset of cells in normal tissues. Nat Genet (1998) 2.56
Telomerase activity is restored in human cells by ectopic expression of hTERT (hEST2), the catalytic subunit of telomerase. Oncogene (1998) 2.56
Small intestinal permeability to macromolecules. Transmission of horseradish peroxidase into mesenteric lymph and portal blood. Lab Invest (1971) 2.46
Inactivating mutations in an SH2 domain-encoding gene in X-linked lymphoproliferative syndrome. Proc Natl Acad Sci U S A (1998) 2.46
Mutations in the gene encoding B, a novel transporter protein, reduce melanin content in medaka. Nat Genet (2001) 2.46
Biogenesis of intestinal plasma membrane: posttranslational route and cleavage of sucrase-isomaltase. Proc Natl Acad Sci U S A (1979) 2.45
Structural basis for double-sieve discrimination of L-valine from L-isoleucine and L-threonine by the complex of tRNA(Val) and valyl-tRNA synthetase. Cell (2000) 2.44
Structural basis for anticodon recognition by discriminating glutamyl-tRNA synthetase. Nat Struct Biol (2001) 2.41
Increased uptake of amino acids and 2-deoxy-D-glucose by virus-transformed cells in culture. Proc Natl Acad Sci U S A (1972) 2.41
Circulating immune complexes and complement activation in primary biliary cirrhosis. N Engl J Med (1978) 2.30
Increased expression of eukaryotic translation initiation factors eIF-4E and eIF-2 alpha in response to growth induction by c-myc. Proc Natl Acad Sci U S A (1993) 2.29
Psoriasis pathophysiology: current concepts of pathogenesis. Ann Rheum Dis (2005) 2.24
Reversal of oncogenesis by the expression of a major histocompatibility complex class I gene. Science (1985) 2.22
Report of the DNA committee and catalogues of cloned and mapped genes and DNA polymorphisms. Cytogenet Cell Genet (1990) 2.21
Influence of implantable cardioverter-defibrillators on the long-term prognosis of survivors of out-of-hospital cardiac arrest. Circulation (1993) 2.20
Small intestinal absorption of horseradish peroxidase. A cytochemical study. Lab Invest (1971) 2.20
Expression of the Wilms' tumor gene WT1 in the murine urogenital system. Genes Dev (1991) 2.20
A detailed linkage map of medaka, Oryzias latipes: comparative genomics and genome evolution. Genetics (2000) 2.19
Peniamidienone and penidilamine, plant growth regulators produced by the fungus Penicillium sp. No. 13. Phytochemistry (2000) 2.16
The pathogenesis of arthritis associated with acute hepatitis-B surface antigen-positive hepatitis. Complement activation and characterization of circulating immune complexes. J Clin Invest (1975) 2.13
Coronary care for myocardial infarction in diabetics. Lancet (1974) 2.12
Caenorhabditis elegans expressed sequence tags identify gene families and potential disease gene homologues. Nat Genet (1992) 2.10
Murine histocompatibility-2 (H-2) alloantigens. Purification and some chemical properties of soluble products from H-2b and H-2d genotypes released by papain digestion of membrane fractions. Biochemistry (1969) 2.06
Glycoprotein composition of colonic mucosa. Specific alterations in ulcerative colitis. Gastroenterology (1984) 2.06
Composition of human colonic mucin. Selective alteration in inflammatory bowel disease. J Clin Invest (1983) 2.03
Loss of imprinting of insulin-like growth factor-II (IGF2) gene in distinguishing specific biologic subtypes of Wilms tumor. J Natl Cancer Inst (2001) 2.02
WT1 suppresses synthesis of the epidermal growth factor receptor and induces apoptosis. EMBO J (1995) 2.02
Isovaleric acidemia: a new genetic defect of leucine metabolism. Proc Natl Acad Sci U S A (1966) 2.00
Physical and functional interaction between WT1 and p53 proteins. Proc Natl Acad Sci U S A (1993) 1.96
Prognosis and survival in patients with gastrointestinal tract carcinoid tumors. Ann Surg (1999) 1.92
A randomized trial of three antipneumocystis agents in patients with advanced human immunodeficiency virus infection. NIAID AIDS Clinical Trials Group. N Engl J Med (1995) 1.89
Intestinal antibodies. N Engl J Med (1977) 1.82
Functional evaluation of PTEN missense mutations using in vitro phosphoinositide phosphatase assay. Cancer Res (2000) 1.79
Multidrug resistance (MDR 1) in leukemia: is it time to test? Blood (1992) 1.79
Effect of penicillin on cell wall mucopeptide synthesis in a Escherichia coli particulate system. Biochem Biophys Res Commun (1966) 1.79
Long-term survivors in metastatic non-small-cell lung cancer: an Eastern Cooperative Oncology Group Study. J Clin Oncol (1986) 1.76
Decreased suppressor cell activity in inflammatory bowel disease. Clin Exp Immunol (1978) 1.75
WT1 mutations contribute to abnormal genital system development and hereditary Wilms' tumour. Nature (1991) 1.75
An evaluation of Ketostix strips. Diabetes (1968) 1.74
A novel repressor, par-4, modulates transcription and growth suppression functions of the Wilms' tumor suppressor WT1. Mol Cell Biol (1996) 1.73
Epithelial glycoprotein is a member of a family of epithelial cell surface antigens homologous to nidogen, a matrix adhesion protein. Proc Natl Acad Sci U S A (1990) 1.72
Very low density lipoproteins in intestinal lymph: origin, composition, and role in lipid transport in the fasting state. J Clin Invest (1969) 1.71
Properties of an altered dihydrofolate reductase encoded by amplified genes in cultured mouse fibroblasts. J Biol Chem (1981) 1.71
Primary structure of rat cardiac beta-adrenergic and muscarinic cholinergic receptors obtained by automated DNA sequence analysis: further evidence for a multigene family. Proc Natl Acad Sci U S A (1987) 1.70
Justification for evaluating new anticancer drugs in selected untreated patients with extensive-stage small-cell lung cancer: an Eastern Cooperative Oncology Group randomized study. J Natl Cancer Inst (1992) 1.70
Expression of Fas ligand in liver metastases of human colonic adenocarcinomas. Proc Natl Acad Sci U S A (1997) 1.68
Normal serum ferritin concentrations in precirrhotic hemochromatosis. N Engl J Med (1976) 1.68
Circulating antibodies to bovine albumin in ulcerative colitis and Crohn's disease. Characterization of the antibody response. Gastroenterology (1976) 1.67
Macromolecular absorption. Mechanism of horseradish peroxidase uptake and transport in adult and neonatal rat intestine. J Cell Biol (1972) 1.66
Constant denaturant gel electrophoresis as a rapid screening technique for p53 mutations. Proc Natl Acad Sci U S A (1991) 1.65
Superiority of quantitative exercise thallium-201 variables in determining long-term prognosis in ambulatory patients with chest pain: a comparison with cardiac catheterization. J Am Coll Cardiol (1988) 1.65
Hepatitis-associated antigen and hepatoma in the U.S. Lancet (1971) 1.64
Cell-mediated immunity in acute and chronic hepatitis. J Clin Invest (1975) 1.63
Isolation, characterization, and expression of the murine Wilms' tumor gene (WT1) during kidney development. Mol Cell Biol (1991) 1.63
Enzymatic synthesis of cell wall mucopeptide in a particulate preparation of Escherichia coli. Biochem Biophys Res Commun (1966) 1.62
Bronchioloalveolar carcinoma of the lung: recurrences and survival in patients with stage I disease. J Thorac Cardiovasc Surg (2001) 1.60
GALACTOSEMIA, A CONGENITAL DEFECT IN A NUCLEOTIDE TRANSFERASE: A PRELIMINARY REPORT. Proc Natl Acad Sci U S A (1956) 1.60
Alpha-fetoprotein in a patient with gastric carcinoma metastatic to the liver. N Engl J Med (1971) 1.59
The WT1 gene product stabilizes p53 and inhibits p53-mediated apoptosis. Genes Dev (1995) 1.59