Published in Nat Genet on October 01, 1992
53BP1 loss rescues BRCA1 deficiency and is associated with triple-negative and BRCA-mutated breast cancers. Nat Struct Mol Biol (2010) 5.59
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
Antioncogenes and human cancer. Proc Natl Acad Sci U S A (1993) 4.09
A continuum model for tumour suppression. Nature (2011) 3.48
Medical hypothesis: xenoestrogens as preventable causes of breast cancer. Environ Health Perspect (1993) 3.07
BRCA1 is a component of the RNA polymerase II holoenzyme. Proc Natl Acad Sci U S A (1997) 2.55
Detection of eight BRCA1 mutations in 10 breast/ovarian cancer families, including 1 family with male breast cancer. Am J Hum Genet (1995) 2.42
Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families. Hum Mol Genet (2001) 2.19
Li-Fraumeni syndrome--a molecular and clinical review. Br J Cancer (1997) 2.14
Mutation of a single allele of the cancer susceptibility gene BRCA1 leads to genomic instability in human breast epithelial cells. Proc Natl Acad Sci U S A (2011) 2.12
The IgM antigen receptor of B lymphocytes is associated with prohibitin and a prohibitin-related protein. EMBO J (1994) 1.94
BRCA1 maps proximal to D17S579 on chromosome 17q21 by genetic analysis. Am J Hum Genet (1993) 1.90
Identification of Id4 as a regulator of BRCA1 expression by using a ribozyme-library-based inverse genomics approach. Proc Natl Acad Sci U S A (2001) 1.90
BRCA1 transcriptionally regulates genes involved in breast tumorigenesis. Proc Natl Acad Sci U S A (2002) 1.89
Epigenetic silencing and deletion of the BRCA1 gene in sporadic breast cancer. Breast Cancer Res (2006) 1.80
The genetics of breast and ovarian cancer. Br J Cancer (1995) 1.78
Classification of BRCA1 missense variants of unknown clinical significance. J Med Genet (2005) 1.71
Familial site-specific ovarian cancer is linked to BRCA1 on 17q12-21. Am J Hum Genet (1994) 1.71
Loss of heterozygosity at chromosome 1p in different solid human tumours: association with survival. Br J Cancer (1999) 1.71
Founding BRCA1 mutations in hereditary breast and ovarian cancer in southern Sweden. Am J Hum Genet (1996) 1.69
Altered proliferation and differentiation properties of primary mammary epithelial cells from BRCA1 mutation carriers. Cancer Res (2009) 1.66
Genomic profiling of breast tumours in relation to BRCA abnormalities and phenotypes. Breast Cancer Res (2009) 1.59
Clinically applicable models to characterize BRCA1 and BRCA2 variants of uncertain significance. J Clin Oncol (2008) 1.56
The gene for the naevoid basal cell carcinoma syndrome acts as a tumour-suppressor gene in medulloblastoma. Br J Cancer (1997) 1.49
Functional assay for BRCA1: mutagenesis of the COOH-terminal region reveals critical residues for transcription activation. Cancer Res (2000) 1.21
The genetic analysis of ovarian cancer. Br J Cancer (1995) 1.16
A common region of deletion on chromosome 17q in both sporadic and familial epithelial ovarian tumors distal to BRCA1. Am J Hum Genet (1994) 1.11
Testing for the breast cancer predisposition gene, BRCA1. BMJ (1996) 1.07
Establishment and characterisation of a new breast cancer xenograft obtained from a woman carrying a germline BRCA2 mutation. Br J Cancer (2010) 1.06
PCR-based microsatellite polymorphisms in the detection of loss of heterozygosity in fresh and archival tumour tissue. Br J Cancer (1993) 1.06
Common BRCA1 variants and transcriptional activation. Am J Hum Genet (1997) 1.05
A high-throughput pharmaceutical screen identifies compounds with specific toxicity against BRCA2-deficient tumors. Clin Cancer Res (2009) 1.04
Characterization of six tumor suppressor genes and microsatellite instability in hepatocellular carcinoma in southern African blacks. World J Gastroenterol (1999) 1.01
Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach. Eur J Hum Genet (2008) 1.00
Inherited predisposition to breast and ovarian cancer. Am J Hum Genet (1994) 0.98
Targeting signaling pathways in epithelial ovarian cancer. Int J Mol Sci (2013) 0.98
Identification of a novel tumor suppressor gene p34 on human chromosome 6q25.1. Cancer Res (2007) 0.98
Cross-species comparison of aCGH data from mouse and human BRCA1- and BRCA2-mutated breast cancers. BMC Cancer (2010) 0.97
Mutation analysis of the BRCA1 gene in 23 families with cases of cancer of the breast, ovary, and multiple other sites. J Med Genet (1996) 0.96
Frequent somatic loss of BRCA1 in breast tumours from BRCA2 germ-line mutation carriers and vice versa. Br J Cancer (2001) 0.95
Role of BRCA gene dysfunction in breast and ovarian cancer predisposition. Breast Cancer Res (2000) 0.94
Alterations of E-cadherin and beta-catenin in gastric cancer. BMC Cancer (2001) 0.94
Genome-wide search for breast cancer linkage in large Icelandic non-BRCA1/2 families. Breast Cancer Res (2010) 0.93
The usefulness of antibodies to the BRCA1 protein in detecting the mutated BRCA1 gene. An immunohistochemical study. J Clin Pathol (2001) 0.91
A population study of mutations and LOH at breast cancer gene loci in tumours from sister pairs: two recurrent mutations seem to account for all BRCA1/BRCA2 linked breast cancer in Iceland. J Med Genet (1998) 0.88
The role of the breast cancer susceptibility gene 1 (BRCA1) in sporadic epithelial ovarian cancer. Reprod Biol Endocrinol (2003) 0.86
Genetic linkage analysis in hereditary non-polyposis colon cancer syndrome. J Med Genet (1995) 0.86
The use of loss of constitutional heterozygosity data to ascertain the location of predisposing genes in cancer families. J Med Genet (1994) 0.86
Duplicated sequence motif in the long terminal repeat of maedi-visna virus extends cell tropism and is associated with neurovirulence. J Virol (2007) 0.85
Evolutionary dynamics of BRCA1 alterations in breast tumorigenesis. J Theor Biol (2010) 0.84
Role of BRCA1 in controlling mitotic arrest in ovarian cystadenoma cells. Int J Cancer (2011) 0.84
Low frequency of BRCA1 germline mutations in 45 German breast/ovarian cancer families. J Med Genet (1997) 0.83
Age-related differences in 1p and 19q deletions in oligodendrogliomas. BMC Clin Pathol (2003) 0.83
BP1, an isoform of DLX4 homeoprotein, negatively regulates BRCA1 in sporadic breast cancer. Int J Biol Sci (2010) 0.82
Probing structure-function relationships in missense variants in the carboxy-terminal region of BRCA1. PLoS One (2014) 0.81
Molecular genetic aspects of human cancers: the 1993 Frank Rose Lecture. Br J Cancer (1993) 0.81
The occurrence of germline BRCA1 and BRCA2 sequence alterations in Slovenian population. BMC Med Genet (2011) 0.80
Molecular genetics of familial breast-ovarian cancer. J Clin Pathol (1995) 0.79
Fine tuning chemotherapy to match BRCA1 status. Biochem Pharmacol (2010) 0.79
The biological effects and clinical implications of BRCA mutations: where do we go from here? Eur J Hum Genet (2016) 0.78
BRCA1 haploinsufficiency leads to altered expression of genes involved in cellular proliferation and development. PLoS One (2014) 0.78
Chromosome 8p alterations in sporadic and BRCA2 999del5 linked breast cancer. J Med Genet (2000) 0.78
Accelerated geroncogenesis in hereditary breast-ovarian cancer syndrome. Oncotarget (2016) 0.77
BRCA1 as a tumor suppressor linked to the regulation of epigenetic states: keeping oncomiRs under control. Breast Cancer Res (2012) 0.77
Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women. Breast Cancer Res (2016) 0.76
Chromosome instability and carcinogenesis: insights from murine models of human pancreatic cancer associated with BRCA2 inactivation. Mol Oncol (2013) 0.76
BRCA1 partially reverses the transforming activity of the ras oncogene. Neoplasia (1999) 0.75
Retrospective determination of HIV-1 status by a PCR method on paraffin wax embedded sections. J Clin Pathol (1995) 0.75
NEK8 regulates DNA damage-induced RAD51 foci formation and replication fork protection. Cell Cycle (2016) 0.75
The dependence of the risk of breast cancer in women on their genotype. Dokl Biol Sci (2004) 0.75
Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet (2003) 18.67
Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet (1998) 15.09
Plasmid-controlled colonization factor associated with virulence in Esherichia coli enterotoxigenic for humans. Infect Immun (1975) 14.65
Hemagglutination of human group A erythrocytes by enterotoxigenic Escherichia coli isolated from adults with diarrhea: correlation with colonization factor. Infect Immun (1977) 10.84
Production of vascular permeability factor by enterotoxigenic Escherichia coli isolated from man. Infect Immun (1973) 9.99
Risks of cancer in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Lancet (1994) 9.60
Degenerate oligonucleotide-primed PCR: general amplification of target DNA by a single degenerate primer. Genomics (1992) 9.06
New surface-associated heat-labile colonization factor antigen (CFA/II) produced by enterotoxigenic Escherichia coli of serogroups O6 and O8. Infect Immun (1978) 8.52
Differences in the response of rabbit small intestine to heat-labile and heat-stable enterotoxins of Escherichia coli. Infect Immun (1973) 8.47
Survival of patients with breast cancer attending Bristol Cancer Help Centre. Lancet (1990) 7.04
Stimulation of adenyl cyclase by Escherichia coli enterotoxin. Nat New Biol (1972) 6.65
Effect of treatment of Helicobacter pylori infection on the long-term recurrence of gastric or duodenal ulcer. A randomized, controlled study. Ann Intern Med (1992) 6.64
Prevalence of BRCA1 and BRCA2 gene mutations in patients with early-onset breast cancer. J Natl Cancer Inst (1999) 6.48
Systematic population-based assessment of cancer risk in first-degree relatives of cancer probands. J Natl Cancer Inst (1994) 6.27
Screening with magnetic resonance imaging and mammography of a UK population at high familial risk of breast cancer: a prospective multicentre cohort study (MARIBS). Lancet (2005) 6.18
Guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab (2001) 6.12
Multifactorial analysis of differences between sporadic breast cancers and cancers involving BRCA1 and BRCA2 mutations. J Natl Cancer Inst (1998) 6.06
Detection and characterization of colonization factor of enterotoxigenic Escherichia coli isolated from adults with diarrhea. Infect Immun (1978) 5.71
Travelers' diarrhea and toxigenic Escherichia coli. N Engl J Med (1975) 5.20
Campylobacter pylori detected noninvasively by the 13C-urea breath test. Lancet (1987) 5.02
Epidemiology of Helicobacter pylori in an asymptomatic population in the United States. Effect of age, race, and socioeconomic status. Gastroenterology (1991) 4.86
Germline mutations of the BRCA1 gene in breast and ovarian cancer families provide evidence for a genotype-phenotype correlation. Nat Genet (1995) 4.86
Polymyxin B-Induced Release of Low-Molecular-Weight, Heat-Labile Enterotoxin from Escherichia coli. Infect Immun (1974) 4.79
Hemagglutination patterns of enterotoxigenic and enteropathogenic Escherichia coli determined with human, bovine, chicken, and guinea pig erythrocytes in the presence and absence of mannose. Infect Immun (1979) 4.60
Family history and the risk of breast cancer: a systematic review and meta-analysis. Int J Cancer (1997) 4.47
Three characteristics associated with enterotoxigenic Escherichia coli isolated from man. Infect Immun (1973) 4.42
Involvement of Brca2 in DNA repair. Mol Cell (1998) 4.41
Purification and characterization of the CFA/I antigen of enterotoxigenic Escherichia coli. Infect Immun (1979) 4.24
A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes. Br J Cancer (2002) 4.18
Variation of risks of breast and ovarian cancer associated with different germline mutations of the BRCA2 gene. Nat Genet (1997) 4.16
Identification of enterotoxigenic Escherichia coli and serum antitoxin activity by the vascular permeability factor assay. Infect Immun (1973) 4.07
The BOADICEA model of genetic susceptibility to breast and ovarian cancer. Br J Cancer (2004) 4.06
The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions. Br J Cancer (2008) 3.87
Infantile diarrhea produced by heat-stable enterotoxigenic Escherichia coli. N Engl J Med (1976) 3.82
An evaluation of genetic heterogeneity in 145 breast-ovarian cancer families. Breast Cancer Linkage Consortium. Am J Hum Genet (1995) 3.81
Estimates of the gene frequency of BRCA1 and its contribution to breast and ovarian cancer incidence. Am J Hum Genet (1995) 3.71
A sensitive and specific serologic test for detection of Campylobacter pylori infection. Gastroenterology (1989) 3.66
Oral contraceptives and the risk of hereditary ovarian cancer. Hereditary Ovarian Cancer Clinical Study Group. N Engl J Med (1998) 3.60
Direct serological assay for the heat-labile enterotoxin of Escherichia coli, using passive immune hemolysis. Infect Immun (1977) 3.57
Localization of the gene for Cowden disease to chromosome 10q22-23. Nat Genet (1996) 3.53
Identification of the familial cylindromatosis tumour-suppressor gene. Nat Genet (2000) 3.42
Diagnostic criteria for schwannomatosis. Neurology (2005) 3.41
Evidence for further breast cancer susceptibility genes in addition to BRCA1 and BRCA2 in a population-based study. Genet Epidemiol (2001) 3.35
A clonal marker induced by mutation in mouse intestinal epithelium. Nature (1988) 3.35
Mutations of the RET proto-oncogene in Hirschsprung's disease. Nature (1994) 3.33
Population-based estimate of the average age-specific cumulative risk of breast cancer for a defined set of protein-truncating mutations in BRCA1 and BRCA2. Australian Breast Cancer Family Study. Cancer Epidemiol Biomarkers Prev (1999) 3.29
How many more breast cancer predisposition genes are there? Breast Cancer Res (1999) 3.10
Patterns of loss of enterotoxigenicity by Escherichia coli isolated from adults with diarrhea: suggestive evidence for an interrelationship with serotype. Infect Immun (1977) 3.04
Cytogenetic analysis by chromosome painting using DOP-PCR amplified flow-sorted chromosomes. Genes Chromosomes Cancer (1992) 3.03
Hemagglutination typing of Escherichia coli: definition of seven hemagglutination types. J Clin Microbiol (1980) 3.03
Factors influencing the eradication of Helicobacter pylori with triple therapy. Gastroenterology (1992) 3.02
Development of the pattern of cell renewal in the crypt-villus unit of chimaeric mouse small intestine. Development (1988) 2.97
Comparative susceptibility of latin american and united states students to enteric pathogens. N Engl J Med (1976) 2.94
Consistent loss of the wild type allele in breast cancers from a family linked to the BRCA2 gene on chromosome 13q12-13. Oncogene (1995) 2.91
Mutations truncating the EP300 acetylase in human cancers. Nat Genet (2000) 2.84
Hemolysin and K antigens in relation to serotype and hemagglutination type of Escherichia coli isolated from extraintestinal infections. J Clin Microbiol (1981) 2.82
Predicting the likelihood of carrying a BRCA1 or BRCA2 mutation: validation of BOADICEA, BRCAPRO, IBIS, Myriad and the Manchester scoring system using data from UK genetics clinics. J Med Genet (2008) 2.81
An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1): evidence for modifying genes. Am J Hum Genet (1993) 2.79
Differences in serological responses and excretion patterns of volunteers challenged with enterotoxigenic Escherichia coli with and without the colonization factor antigen. Infect Immun (1978) 2.78
Risk models for familial ovarian and breast cancer. Genet Epidemiol (2000) 2.75
Models of genetic susceptibility to breast cancer. Oncogene (2006) 2.69
Role of Escherichia coli colonisation factor antigen in acute diarrhoea. Lancet (1978) 2.65
Seroepidemiology of Helicobacter pylori infection in India. Comparison of developing and developed countries. Dig Dis Sci (1991) 2.63
DNA "fingerprints" and segregation analysis of multiple markers in human pedigrees. Am J Hum Genet (1986) 2.55
Familial breast cancer. BMJ (1994) 2.54
Mutation analysis of BRCA1 and BRCA2 in a male breast cancer population. Am J Hum Genet (1997) 2.53
DNA methylation patterns in hereditary human cancers mimic sporadic tumorigenesis. Hum Mol Genet (2001) 2.50
Virulence factors of enterotoxigenic Escherichia coli. J Infect Dis (1977) 2.45
Instability of short tandem repeats (microsatellites) in human cancers. Nat Genet (1994) 2.45
High prevalence of the 999del5 mutation in icelandic breast and ovarian cancer patients. Cancer Res (1996) 2.43
Germline E-cadherin gene (CDH1) mutations predispose to familial gastric cancer and colorectal cancer. Hum Mol Genet (1999) 2.41
Location of gene for Gorlin syndrome. Lancet (1992) 2.41
A systematic review of genetic polymorphisms and breast cancer risk. Cancer Epidemiol Biomarkers Prev (1999) 2.39
Familial gastric cancer: overview and guidelines for management. J Med Genet (1999) 2.38
Relative frequency and morphology of cancers in carriers of germline TP53 mutations. Oncogene (2001) 2.36
Derivation of mouse intestinal crypts from single progenitor cells. Nature (1985) 2.31
Polygenic susceptibility to prostate and breast cancer: implications for personalised screening. Br J Cancer (2011) 2.28
Germ-line mutations of TP53 in Li-Fraumeni families: an extended study of 39 families. Cancer Res (1997) 2.27
Deletion of genes on chromosome 1 in endocrine neoplasia. Nature (1987) 2.27
Localization to Xq27 of a susceptibility gene for testicular germ-cell tumours. Nat Genet (2000) 2.26
Evaluation of breast cancer risk assessment packages in the family history evaluation and screening programme. J Med Genet (2003) 2.24
An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation. Am J Hum Genet (2006) 2.23
Diarrhea caused by Shigella, rotavirus, and Giardia in day-care centers: prospective study. J Pediatr (1981) 2.21
Identification of germ-line E-cadherin mutations in gastric cancer families of European origin. Cancer Res (1998) 2.20
Prevention of traveler's diarrhea (emporiatric enteritis). Prophylactic administration of subsalicylate bismuth). JAMA (1980) 2.16
A linked genetic marker for multiple endocrine neoplasia type 2A on chromosome 10. Nature (1987) 2.15
Li-Fraumeni syndrome--a molecular and clinical review. Br J Cancer (1997) 2.14
Inappropriate hypergastrinaemia in asymptomatic healthy subjects infected with Helicobacter pylori. Gut (1990) 2.13
ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer. Am J Hum Genet (1998) 2.06
Cumulative lifetime incidence of extracolonic cancers in Lynch syndrome: a report of 121 families with proven mutations. Clin Genet (2009) 2.05
The extent of linkage disequilibrium in four populations with distinct demographic histories. Am J Hum Genet (2000) 2.03