The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds.

PubWeight™: 6.43‹?› | Rank: Top 1%

🔗 View Article (PMID 8589730)

Published in Nat Genet on March 01, 1996

Authors

S V Tavtigian1, J Simard, J Rommens, F Couch, D Shattuck-Eidens, S Neuhausen, S Merajver, S Thorlacius, K Offit, D Stoppa-Lyonnet, C Belanger, R Bell, S Berry, R Bogden, Q Chen, T Davis, M Dumont, C Frye, T Hattier, S Jammulapati, T Janecki, P Jiang, R Kehrer, J F Leblanc, J T Mitchell, J McArthur-Morrison, K Nguyen, Y Peng, C Samson, M Schroeder, S C Snyder, L Steele, M Stringfellow, C Stroup, B Swedlund, J Swense, D Teng, A Thomas, T Tran, M Tranchant, J Weaver-Feldhaus, A K Wong, H Shizuya, J E Eyfjord, L Cannon-Albright, M Tranchant, F Labrie, M H Skolnick, B Weber, A Kamb, D E Goldgar

Author Affiliations

1: Myriad Genetics Inc., Salt Lake City, Utah, USA.

Associated clinical trials:

Breast Imaging Studies in Women at High Genetic Risk of Breast Cancer: Menstrual Cycle Study | NCT00006425

Articles citing this

(truncated to the top 100)

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

Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral. J Med Genet (2005) 4.98

Variation in cancer risks, by mutation position, in BRCA2 mutation carriers. Am J Hum Genet (2001) 3.75

Myriad Genetics: In the eye of the policy storm. Genet Med (2010) 3.30

Population genetics of BRCA1 and BRCA2. Am J Hum Genet (1997) 3.28

Mutations in BRIP1 confer high risk of ovarian cancer. Nat Genet (2011) 3.06

The BRC repeats in BRCA2 are critical for RAD51 binding and resistance to methyl methanesulfonate treatment. Proc Natl Acad Sci U S A (1998) 2.85

Cancer risks in two large breast cancer families linked to BRCA2 on chromosome 13q12-13. Am J Hum Genet (1997) 2.77

A mutation in PCSK9 causing autosomal-dominant hypercholesterolemia in a Utah pedigree. Hum Genet (2004) 2.53

Mutation analysis of BRCA1 and BRCA2 in a male breast cancer population. Am J Hum Genet (1997) 2.53

Ovarian carcinomas with genetic and epigenetic BRCA1 loss have distinct molecular abnormalities. BMC Cancer (2008) 2.47

Moderate frequency of BRCA1 and BRCA2 germ-line mutations in Scandinavian familial breast cancer. Am J Hum Genet (1997) 2.33

Founder BRCA1 and BRCA2 mutations in Ashkenazi Jews in Israel: frequency and differential penetrance in ovarian cancer and in breast-ovarian cancer families. Am J Hum Genet (1997) 2.31

Study of a single BRCA2 mutation with high carrier frequency in a small population. Am J Hum Genet (1997) 2.28

RAB22 and RAB163/mouse BRCA2: proteins that specifically interact with the RAD51 protein. Proc Natl Acad Sci U S A (1997) 2.23

Mutations in BRCA1 and BRCA2 in breast cancer families: are there more breast cancer-susceptibility genes? Am J Hum Genet (1997) 2.15

Brca2 (XRCC11) deficiency results in radioresistant DNA synthesis and a higher frequency of spontaneous deletions. Mol Cell Biol (2002) 2.14

The BRCA2 gene product functionally interacts with p53 and RAD51. Proc Natl Acad Sci U S A (1998) 1.97

BRCA1 sequence variations in 160 individuals referred to a breast/ovarian family cancer clinic. Institut Curie Breast Cancer Group. Am J Hum Genet (1997) 1.91

Founder BRCA1 and BRCA2 mutations in French Canadian breast and ovarian cancer families. Am J Hum Genet (1998) 1.88

BRCA2 T2722R is a deleterious allele that causes exon skipping. Am J Hum Genet (2002) 1.80

Altered gene expression in morphologically normal epithelial cells from heterozygous carriers of BRCA1 or BRCA2 mutations. Cancer Prev Res (Phila) (2010) 1.80

Functional assays for classification of BRCA2 variants of uncertain significance. Cancer Res (2008) 1.79

Interaction between the product of the breast cancer susceptibility gene BRCA2 and DSS1, a protein functionally conserved from yeast to mammals. Mol Cell Biol (1999) 1.77

Frequency and carrier risk associated with common BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer patients. Am J Hum Genet (1998) 1.75

Homologous recombination and human health: the roles of BRCA1, BRCA2, and associated proteins. Cold Spring Harb Perspect Biol (2015) 1.73

Activation of BRCA1/BRCA2-associated helicase BACH1 is required for timely progression through S phase. Mol Cell Biol (2007) 1.72

Brca2 is coordinately regulated with Brca1 during proliferation and differentiation in mammary epithelial cells. Proc Natl Acad Sci U S A (1996) 1.70

Haplotype and phenotype analysis of nine recurrent BRCA2 mutations in 111 families: results of an international study. Am J Hum Genet (1998) 1.61

BRCA2 in American families with four or more cases of breast or ovarian cancer: recurrent and novel mutations, variable expression, penetrance, and the possibility of families whose cancer is not attributable to BRCA1 or BRCA2. Am J Hum Genet (1997) 1.60

Unraveling the mechanism of BRCA2 in homologous recombination. Nat Struct Mol Biol (2011) 1.59

Truncated BRCA2 is cytoplasmic: implications for cancer-linked mutations. Proc Natl Acad Sci U S A (1999) 1.54

A genome screen of multiplex sibships with prostate cancer. Am J Hum Genet (2000) 1.51

Structural basis for recruitment of BRCA2 by PALB2. EMBO Rep (2009) 1.50

A low proportion of BRCA2 mutations in Finnish breast cancer families. Am J Hum Genet (1997) 1.46

The contribution of germline BRCA1 and BRCA2 mutations to familial ovarian cancer: no evidence for other ovarian cancer-susceptibility genes. Am J Hum Genet (1999) 1.45

BRCA2 is ubiquitinated in vivo and interacts with USP11, a deubiquitinating enzyme that exhibits prosurvival function in the cellular response to DNA damage. Mol Cell Biol (2004) 1.44

The role of MMAC1 mutations in early-onset breast cancer: causative in association with Cowden syndrome and excluded in BRCA1-negative cases. Am J Hum Genet (1997) 1.37

Regulation of BRCA1 expression and its relationship to sporadic breast cancer. Breast Cancer Res (2002) 1.35

A guide for functional analysis of BRCA1 variants of uncertain significance. Hum Mutat (2012) 1.34

Direct isolation of human BRCA2 gene by transformation-associated recombination in yeast. Proc Natl Acad Sci U S A (1997) 1.30

The effect of a single BRCA2 mutation on cancer in Iceland. J Med Genet (2002) 1.26

Cancer variation associated with the position of the mutation in the BRCA2 gene. Fam Cancer (2004) 1.25

The relative contribution of point mutations and genomic rearrangements in BRCA1 and BRCA2 in high-risk breast cancer families. Cancer Res (2008) 1.24

Contribution of germline BRCA1 and BRCA2 sequence alterations to breast cancer in Northern India. BMC Med Genet (2006) 1.24

Roles of brca2 (fancd1) in oocyte nuclear architecture, gametogenesis, gonad tumors, and genome stability in zebrafish. PLoS Genet (2011) 1.22

Recurrent germ-line BRCA1 mutations in extended African American families with early-onset breast cancer. Am J Hum Genet (1997) 1.20

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

Significant evidence for a heritable contribution to cancer predisposition: a review of cancer familiality by site. BMC Cancer (2012) 1.18

Evaluation of BRCA1 and BRCA2 mutation prevalence, risk prediction models and a multistep testing approach in French-Canadian families with high risk of breast and ovarian cancer. J Med Genet (2006) 1.17

Screening for BRCA1, BRCA2, CHEK2, PALB2, BRIP1, RAD50, and CDH1 mutations in high-risk Finnish BRCA1/2-founder mutation-negative breast and/or ovarian cancer individuals. Breast Cancer Res (2011) 1.17

Analysis of BRCA1 and BRCA2 mutations in Hungarian families with breast or breast-ovarian cancer. Am J Hum Genet (1997) 1.16

Functional assays for BRCA1 and BRCA2. Int J Biochem Cell Biol (2006) 1.15

Brief assessment of parents' attitudes toward testing minor children for hereditary breast/ovarian cancer genes: development and validation of the Pediatric BRCA1/2 Testing Attitudes Scale (P-TAS). J Pediatr Psychol (2008) 1.12

Fanconi anemia proteins and endogenous stresses. Mutat Res (2009) 1.11

Methodological issues in detecting gene-gene interactions in breast cancer susceptibility: a population-based study in Ontario. BMC Med (2007) 1.08

A novel BRCA2 mutation in an Indonesian family found with a new, rapid, and sensitive mutation detection method based on pooled denaturing gradient gel electrophoresis and targeted sequencing. J Clin Pathol (2005) 1.08

Germline BRCA2 mutations in men with breast cancer. Br J Cancer (1997) 1.07

Absence of methylation of CpG dinucleotides within the promoter of the breast cancer susceptibility gene BRCA2 in normal tissues and in breast and ovarian cancers. Br J Cancer (1997) 1.07

Familiality in brain tumors. Neurology (2008) 1.06

Life trajectories, genetic testing, and risk reduction decisions in 18-39 year old women at risk for hereditary breast and ovarian cancer. J Genet Couns (2008) 1.06

The genetic epidemiology of early-onset epithelial ovarian cancer: a population-based study. Am J Hum Genet (1999) 1.06

A high-throughput pharmaceutical screen identifies compounds with specific toxicity against BRCA2-deficient tumors. Clin Cancer Res (2009) 1.04

Screening for 185delAG in the Ashkenazim. Am J Hum Genet (1997) 1.04

A novel pancreatic endocrine tumor suppressor gene locus on chromosome 3p with clinical prognostic implications. J Clin Invest (1997) 1.03

Allelic loss at chromosome 13q12-q13 is associated with poor prognosis in familial and sporadic breast cancer. Br J Cancer (1996) 1.03

Cancer incidence in relatives of a population-based set of cases of early-onset breast cancer with a known BRCA1 and BRCA2 mutation status. Breast Cancer Res (2003) 1.03

Hereditary breast cancer in Jews. Fam Cancer (2004) 0.99

Egr-1 regulates the transcription of the BRCA1 gene by etoposide. BMB Rep (2013) 0.98

The Icelandic founder mutation BRCA2 999del5: analysis of expression. Breast Cancer Res (2004) 0.98

Identification of a novel human Rad51 variant that promotes DNA strand exchange. Nucleic Acids Res (2008) 0.98

BRCA1 protein and nucleolin colocalize in breast carcinoma tissue and cancer cell lines. Am J Pathol (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

Pancreatic adenocarcinoma: epidemiology and genetics. J Med Genet (1996) 0.96

The European BRCA patent oppositions and appeals: coloring inside the lines. Nat Biotechnol (2013) 0.95

Frequent somatic loss of BRCA1 in breast tumours from BRCA2 germ-line mutation carriers and vice versa. Br J Cancer (2001) 0.95

BRCA2 protein deficiency exaggerates doxorubicin-induced cardiomyocyte apoptosis and cardiac failure. J Biol Chem (2011) 0.94

An evaluation of common breast cancer gene mutations in a population of Ashkenazi Jews. J Med Genet (1998) 0.94

Molecular and genealogical characterization of the R1443X BRCA1 mutation in high-risk French-Canadian breast/ovarian cancer families. Hum Genet (2005) 0.94

Imaging of single DNA molecule: applications to high-resolution genomic studies. Chromosome Res (1999) 0.94

BRCA1 and BRCA2 proteins: roles in health and disease. Mol Pathol (1998) 0.94

Predictors of decision making in families at risk for inherited breast/ovarian cancer. Health Psychol (2009) 0.94

Detection of BRCA1 and BRCA2 germline mutations in Japanese population using next-generation sequencing. Mol Genet Genomic Med (2014) 0.94

Effects of age on the detection and management of breast cancer. Cancers (Basel) (2015) 0.94

Association of breast cancer risk with genetic variants showing differential allelic expression: Identification of a novel breast cancer susceptibility locus at 4q21. Oncotarget (2016) 0.93

SGK3 is associated with estrogen receptor expression in breast cancer. Breast Cancer Res Treat (2012) 0.93

Characteristics of small breast and/or ovarian cancer families with germline mutations in BRCA1 and BRCA2. Br J Cancer (1999) 0.93

Ovarian surface epithelium: family history and early events in ovarian cancer. Reprod Biol Endocrinol (2003) 0.92

Age-dependent penetrance of different germline mutations in the BRCA1 gene. J Clin Pathol (2009) 0.91

Mining electronic health records: an additional perspective. Nat Rev Genet (2013) 0.91

BRCA2 mutations in hereditary breast and ovarian cancer in France. Am J Hum Genet (1997) 0.91

BRCA1 and BRCA2 mutations in Turkish breast/ovarian families and young breast cancer patients. Br J Cancer (2000) 0.91

copy number variation analysis in familial BRCA1/2-negative Finnish breast and ovarian cancer. PLoS One (2013) 0.90

Evidence for a heritable predisposition to Chronic Fatigue Syndrome. BMC Neurol (2011) 0.90

BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers. J Natl Cancer Inst (2015) 0.90

Using gene carrier probability to select high risk families for identifying germline mutations in breast cancer susceptibility genes. J Med Genet (1998) 0.90

Growing recognition of the role for rare missense substitutions in breast cancer susceptibility. Biomark Med (2014) 0.89

Identification of a founder BRCA2 mutation in Sardinia. Br J Cancer (2000) 0.89

BRCA1 Circos: a visualisation resource for functional analysis of missense variants. J Med Genet (2015) 0.88

Articles by these authors

Initial sequencing and analysis of the human genome. Nature (2001) 212.86

Distinct types of diffuse large B-cell lymphoma identified by gene expression profiling. Nature (2000) 64.32

A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science (1994) 36.53

SGD: Saccharomyces Genome Database. Nucleic Acids Res (1998) 20.26

LMO2-associated clonal T cell proliferation in two patients after gene therapy for SCID-X1. Science (2003) 19.77

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

Integrating functional genomic information into the Saccharomyces genome database. Nucleic Acids Res (2000) 18.52

Identification of a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancers. Nat Genet (1997) 15.38

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

Using the Saccharomyces Genome Database (SGD) for analysis of protein similarities and structure. Nucleic Acids Res (1999) 13.65

Effects of long-term fenofibrate therapy on cardiovascular events in 9795 people with type 2 diabetes mellitus (the FIELD study): randomised controlled trial. Lancet (2005) 13.18

A cell cycle regulator potentially involved in genesis of many tumor types. Science (1994) 13.00

The functioning and well-being of depressed patients. Results from the Medical Outcomes Study. JAMA (1989) 12.07

Development of the 25-item National Eye Institute Visual Function Questionnaire. Arch Ophthalmol (2001) 10.35

Risks of cancer in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Lancet (1994) 9.60

Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13. Science (1994) 8.73

Lack of effect of long-term supplementation with beta carotene on the incidence of malignant neoplasms and cardiovascular disease. N Engl J Med (1996) 8.57

Pulmonary expression of interleukin-13 causes inflammation, mucus hypersecretion, subepithelial fibrosis, physiologic abnormalities, and eotaxin production. J Clin Invest (1999) 8.38

Beta-defensins: linking innate and adaptive immunity through dendritic and T cell CCR6. Science (1999) 7.86

Multisite phosphorylation of a CDK inhibitor sets a threshold for the onset of DNA replication. Nature (2001) 7.31

BRCA1 mutations in primary breast and ovarian carcinomas. Science (1994) 6.81

Kaposi's sarcoma-associated herpesvirus infects endothelial and spindle cells. Nat Med (1995) 6.71

Binding of c-Myc to chromatin mediates mitogen-induced acetylation of histone H4 and gene activation. Genes Dev (2001) 6.36

Systematic population-based assessment of cancer risk in first-degree relatives of cancer probands. J Natl Cancer Inst (1994) 6.27

Multifactorial analysis of differences between sporadic breast cancers and cancers involving BRCA1 and BRCA2 mutations. J Natl Cancer Inst (1998) 6.06

LEF-1, a gene encoding a lymphoid-specific protein with an HMG domain, regulates T-cell receptor alpha enhancer function [corrected]. Genes Dev (1991) 5.95

Characterization of uncultivated prokaryotes: isolation and analysis of a 40-kilobase-pair genome fragment from a planktonic marine archaeon. J Bacteriol (1996) 5.95

An exploration of the sequence of a 2.9-Mb region of the genome of Drosophila melanogaster: the Adh region. Genetics (1999) 5.87

A malaria model tested in the African savannah. Bull World Health Organ (1974) 5.74

Requirement for NF-kappaB in osteoclast and B-cell development. Genes Dev (1997) 5.65

Psychometric properties of the National Eye Institute Visual Function Questionnaire (NEI-VFQ). NEI-VFQ Field Test Investigators. Arch Ophthalmol (1998) 5.64

Oxidative damage linked to neurodegeneration by selective alpha-synuclein nitration in synucleinopathy lesions. Science (2000) 5.62

A new bacteriophage P1-derived vector for the propagation of large human DNA fragments. Nat Genet (1994) 5.34

Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17. Science (1987) 5.11

A candidate prostate cancer susceptibility gene at chromosome 17p. Nat Genet (2001) 5.06

Thrombosis and acute coronary-artery lesions in sudden cardiac ischemic death. N Engl J Med (1984) 5.02

Efficacy of mycophenolate mofetil in patients with diffuse proliferative lupus nephritis. Hong Kong-Guangzhou Nephrology Study Group. N Engl J Med (2000) 4.99

Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral. J Med Genet (2005) 4.98

IDEC-C2B8 (Rituximab) anti-CD20 monoclonal antibody therapy in patients with relapsed low-grade non-Hodgkin's lymphoma. Blood (1997) 4.97

Noninvasive diagnosis by Doppler ultrasonography of fetal anemia due to maternal red-cell alloimmunization. Collaborative Group for Doppler Assessment of the Blood Velocity in Anemic Fetuses. N Engl J Med (2000) 4.95

A receptor for tumor necrosis factor defines an unusual family of cellular and viral proteins. Science (1990) 4.90

Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC. Nat Genet (1997) 4.86

Recommendations for follow-up care of individuals with an inherited predisposition to cancer. II. BRCA1 and BRCA2. Cancer Genetics Studies Consortium. JAMA (1997) 4.79

Interleukin-13 induces tissue fibrosis by selectively stimulating and activating transforming growth factor beta(1). J Exp Med (2001) 4.71

The relation between genotype and phenotype in cystic fibrosis--analysis of the most common mutation (delta F508). N Engl J Med (1990) 4.70

LL-37, the neutrophil granule- and epithelial cell-derived cathelicidin, utilizes formyl peptide receptor-like 1 (FPRL1) as a receptor to chemoattract human peripheral blood neutrophils, monocytes, and T cells. J Exp Med (2000) 4.68

TP53 mutations and breast cancer prognosis: particularly poor survival rates for cases with mutations in the zinc-binding domains. Genes Chromosomes Cancer (1995) 4.59

A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene. Implications for presymptomatic testing and screening. JAMA (1995) 4.45

A single BRCA2 mutation in male and female breast cancer families from Iceland with varied cancer phenotypes. Nat Genet (1996) 4.38

Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics (1991) 4.27

The effects of frequent nocturnal home hemodialysis: the Frequent Hemodialysis Network Nocturnal Trial. Kidney Int (2011) 4.27

Accumulation of sub-100 nm polymeric micelles in poorly permeable tumours depends on size. Nat Nanotechnol (2011) 4.22

Allogeneic bone marrow transplantation in multiple myeloma. European Group for Bone Marrow Transplantation. N Engl J Med (1991) 4.17

Identification of mutations in the COL4A5 collagen gene in Alport syndrome. Science (1990) 4.15

Ibuprofen suppresses plaque pathology and inflammation in a mouse model for Alzheimer's disease. J Neurosci (2000) 4.14

Mutant presenilins of Alzheimer's disease increase production of 42-residue amyloid beta-protein in both transfected cells and transgenic mice. Nat Med (1997) 4.10

Appropriateness of the decision to transfer nursing facility residents to the hospital. J Am Geriatr Soc (2000) 3.99

Stable propagation of cosmid sized human DNA inserts in an F factor based vector. Nucleic Acids Res (1992) 3.97

Construction and characterization of a human bacterial artificial chromosome library. Genomics (1996) 3.91

Alterations of a zinc finger-encoding gene, BCL-6, in diffuse large-cell lymphoma. Science (1993) 3.89

The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions. Br J Cancer (2008) 3.87

Intensive Care Delirium Screening Checklist: evaluation of a new screening tool. Intensive Care Med (2001) 3.87

Identifying the content area for the 51-item National Eye Institute Visual Function Questionnaire: results from focus groups with visually impaired persons. Arch Ophthalmol (1998) 3.75

The acquisition of herpes simplex virus during pregnancy. N Engl J Med (1997) 3.73

Assessing the risk of breast cancer. N Engl J Med (2000) 3.72

Bayesian approaches to random-effects meta-analysis: a comparative study. Stat Med (1995) 3.71

Prevalence of hemochromatosis among 11,065 presumably healthy blood donors. N Engl J Med (1988) 3.66

Oral contraceptives and the risk of hereditary ovarian cancer. Hereditary Ovarian Cancer Clinical Study Group. N Engl J Med (1998) 3.60

Human mitogen-activated protein kinase kinase 4 as a candidate tumor suppressor. Cancer Res (1997) 3.55