A 1-kb Alu-mediated germ-line deletion removing BRCA1 exon 17.

No abstract is available for this paper.

• Publication year

  1997

• Venue

  Cancer Research

• Publication date

  1997-03-01

• Fields of study

  Biology, Medicine

• Identifiers
  PMID 9041180
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Genetic heterogeneity in hereditary breast cancer: role of BRCA1 and BRCA2.

  1996cited by this paper
• A high incidence of BRCA1 mutations in 20 breast-ovarian cancer families.

  1996cited by this paper
• Predominance of null mutations in ataxia-telangiectasia.

  1996cited by this paper
• Defects in RNA splicing and the consequence of shortened translational reading frames.

  1996cited by this paper
• The spectrum of RB1 germ-line mutations in hereditary retinoblastoma.

  1996cited by this paper
• Complete genomic sequence and analysis of 117 kb of human DNA containing the gene BRCA1.

  1996cited by this paper
• One short well conserved region of Alu-sequences is involved in human gene rearrangements and has homology with prokaryotic chi.

  1995cited by this paper
• Novel inherited mutations and variable expressivity of BRCA1 alleles, including the founder mutation 185delAG in Ashkenazi Jewish families.

  1995cited by this paper
• Founding mutations and Alu-mediated recombination in hereditary colon cancer

  1995cited by this paper
• Germline mutations of the BRCA1 gene in breast and ovarian cancer families provide evidence for a genotype–phenotype correlation

  1995cited by this paper
• Detailed mapping of germline deletions of the von Hippel-Lindau disease tumour suppressor gene.

  1994cited by this paper
• A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1.

  1994cited by this paper
• A breast-ovarian cancer susceptibility gene maps to chromosome 17q21.

  1993cited by this paper
• Familial breast-ovarian cancer locus on chromosome 17q12-q23.

  1991cited by this paper
• Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains.

  1985cited by this paper

• Characterization of Large Genomic Rearrangements in BRCA1 and BRCA2 Genes in a Chinese High-Risk Cohort.

  2026cites this paper
• The role of Alu elements in causing BRCA1 structural variation and breast cancer susceptibility

  2025cites this paper
• Tandem duplication and triplication in BRCA1: revisiting the large genomic rearrangements via optical genome mapping.

  2025cites this paper
• Toward Informed Selection and Interpretation of Clinical Genomic Tests in Prostate Cancer

  2024cites this paper
• Transformation-associated recombination (TAR) cloning and its applications for gene function; genome architecture and evolution; biotechnology and biomedicine

  2023cites this paper
• BRCA1/2 Mutation Detection in the Tumor Tissue from Selected Polish Patients with Breast Cancer Using Next Generation Sequencing

  2021cites this paper
• Transposons: Unexpected players in cancer.

  2021cites this paper
• The dark side of homology-directed repair.

  2021cites this paper
• 5′ Region Large Genomic Rearrangements in the BRCA1 Gene in French Families: Identification of a Tandem Triplication and Nine Distinct Deletions with Five Recurrent Breakpoints

  2021cites this paper
• On the probability of identity states in permutable populations: reply to Cannings

  2020cites this paper
• The contribution of large genomic rearrangements in BRCA1 and BRCA2 to South African familial breast cancer

  2020cites this paper
• Screening of BRCA1/2 genes mutations and copy number variations in patients with high risk for hereditary breast and ovarian cancer syndrome (HBOC)

  2020cites this paper
• Mobile element insertions and associated structural variants in longitudinal breast cancer samples

  2020cites this paper
• Break‐induced replication plays a prominent role in long‐range repeat‐mediated deletion

  2019cites this paper
• 2 Alu Elements

  2019cites this paper
• Comprehensive mutation detection of BRCA1/2 genes reveals large genomic rearrangements contribute to hereditary breast and ovarian cancer in Chinese women

  2019cites this paper
• International Journal of Medical and Biomedical Studies (IJMBS)

  2019cites this paper
• ABUNDANCE OF BRCA 1 TRANSCRIPTS IN HUMAN CANCER AND LYMPHOBLASTOID CELL LINES CARRYING BRCA 1 GERMLINE ALTERATIONS

  2018cites this paper
• BRCA mutations: is everything said?

  2018cites this paper
• DNA nanomapping using CRISPR-Cas9 as a programmable nanoparticle

  2017cites this paper
• BRCA1 Testing—Advances and Retreats

  2017cites this paper
• Detection of BRCA1 gross rearrangements by droplet digital PCR

  2017cites this paper
• Next-Generation Sequencing-Based Detection of Germline Copy Number Variations in BRCA1/BRCA2: Validation of a One-Step Diagnostic Workflow.

  2017cites this paper
• Role of p53 in the progression from ochratoxin A-induced DNA damage to gene mutations in the kidneys of mice.

  2015cites this paper
• First recurrent large genomic rearrangement in the BRCA1 gene found in Poland.

  2014cites this paper
• The contribution of genetic susceptibility to breast cancer

  2014cites this paper
• Design and validation of an oligonucleotide microarray for the detection of genomic rearrangements associated with common hereditary cancer syndromes

  2014cites this paper
• Possible Carcinogenic Mechanisms Underlying Renal Carcinogens in Food

  2014cites this paper
• Assessment of individuals with BRCA1 and BRCA2 large rearrangements in high-risk breast and ovarian cancer families

  2014cites this paper
• An expanding universe of the non-coding genome in cancer biology.

  2014cites this paper
• Ochratoxin A induces DNA double-strand breaks and large deletion mutations in the carcinogenic target site of gpt delta rats.

  2014cites this paper
• Large genomic rearrangement of BRCA1 and BRCA2 genes in familial breast cancer patients in Korea

  2014cites this paper
• Large BRCA1 and BRCA2 genomic rearrangements in Polish high-risk breast and ovarian cancer families

  2013cites this paper
• Genomic rearrangements of the BRCA1 gene in Chilean breast cancer families: an MLPA analysis

  2011cites this paper
• Haplotype analysis of two recurrent genomic rearrangements in the BRCA1 gene suggests they are founder mutations for the Greek population

  2011cites this paper
• Molecular and Clinical Characteristics of Pituitary Adenoma Predisposition (PAP)

  2011cites this paper
• Genomic Large Rearrangement Screening of BRCA1 and BRCA2 Genes in High-Risk Turkish Breast/Ovarian Cancer Patients by Using Multiplex Ligation-Dependent Probe Amplification Assay

  2011cites this paper
• Searching for large genomic rearrangements of the BRCA1 gene in a Nigerian population

  2010cites this paper
• Detection of Genomic Duplications and Deletions

  2010cites this paper
• Comprehensive BRCA1 and BRCA2 mutation analyses and review of French Canadian families with at least three cases of breast cancer

  2010cites this paper
• Identification of novel large genomic rearrangements at the BRCA1 locus in Malaysian women with breast cancer.

  2010cites this paper
• CHARLES UNIVERSITY IN PRAGUE

  2010cites this paper
• Large genomic rearrangements of the BRCA1 and BRCA2 genes: review of the literature and report of a novel BRCA1 mutation

  2010cites this paper
• Large genomic rearrangements in mutation‐negative BRCA families: a population‐based study

  2010cites this paper
• AWARD NUMBER: W81XWH-07-1-0380 TITLE: A Functional Assay for Allele-Specific BRCA 1/2 mRNA Null Phenotypes in Breast/Ovarian Cancer Families

  2009cites this paper
• Identification in silico d’éléments de réponse de récepteurs nucléaires impliqués dans le cancer du sein

  2009cites this paper
• Large BRCA1 and BRCA2 genomic rearrangements in Danish high risk breast-ovarian cancer families

  2009cites this paper
• Rastreamento de mutações patogênicas nos genes BRCA1 e BRCA2 em pacientes brasileiras em risco para a síndrome de câncer de mama e ovário hereditários

  2008cites this paper
• BRCA1 and BRCA2 point mutations and large rearrangements in breast and ovarian cancer families in Northern Poland.

  2008cites this paper
• The relative contribution of point mutations and genomic rearrangements in BRCA1 and BRCA2 in high-risk breast cancer families.

  2008cites this paper
• Analysis of BRCA1/BRCA2 genes’ contribution to breast cancer susceptibility in high risk Jewish Ashkenazi women

  2008cites this paper
• BRCA1 and BRCA2 Mutation Prevalence and Clinical Characteristics of a Population-Based Series of Ovarian Cancer Cases from Denmark

  2008cites this paper
• Contribution of PTEN large rearrangements in Cowden disease: a multiplex amplifiable probe hybridisation (MAPH) screening approach

  2008cites this paper
• Novel complex genomic rearrangement of the BRCA1 gene.

  2008cites this paper
• Characterisation of BRCA1 genomic rearrangements in South African breast and/or ovarian cancer families

  2007cites this paper
• Inherited Breast Cancer

  2007cites this paper
• Genetic Predisposition to Breast and Ovarian Cancer in Eastern Finnish

  2007cites this paper
• Contribution of BRCA1 and BRCA2 mutations to inherited ovarian cancer

  2007cites this paper
• Molecular Diagnostics: Methods and Limitations

  2007cites this paper
• Novel genomic rearrangements in the BRCA1 gene detected in Greek breast/ovarian cancer patients.

  2007cites this paper
• Prevalence of BRCA1 and BRCA2 genomic rearrangements in a cohort of consecutive Italian breast and/or ovarian cancer families

  2007cites this paper
• Identificação e Caracterização de Pacientes em Risco para Câncer de Mama Hereditário no Sul do Brasil

  2007cites this paper
• Prediction of BRCA1/2 mutation status in patients with ovarian cancer from a hospital-based cohort

  2007cites this paper
• Identification of novel BRCA large genomic rearrangements in Singapore Asian breast and ovarian patients with cancer

  2007cites this paper
• No Evidence of BRCA1/2 Genomic Rearrangements in High-Risk French-Canadian Breast/Ovarian Cancer Families

  2006influential citation
• Gross rearrangements in BRCA1 but not BRCA2 play a notable role in predisposition to breast and ovarian cancer in high-risk families of German origin.

  2006cites this paper
• Low frequency of large genomic rearrangements of BRCA1 and BRCA2 in western Denmark.

  2006influential citation
• The dialectics of cancer: A theory of the initiation and development of cancer through errors in RNAi.

  2006cites this paper
• BRCA1 and BRCA2: the genetic testing and the current management options for mutation carriers.

  2006cites this paper
• Low Prevalence of BRCA1 Exon Rearrangements in Familial and Young Sporadic Breast Cancer Patients

  2006cites this paper
• Ratio of male to female births in the offspring of BRCA1 and BRCA2 carriers

  2005cites this paper
• Complete allelic analysis of BRCA1 and BRCA2 variants in young Nigerian breast cancer patients

  2005cites this paper
• Search for large genomic alterations of the BRCA1 gene in a Finnish population.

  2005cites this paper
• cancer phenotype in selected families are a feature of the inherited breast/ovarian BRCA1 and BRCA2 Large genomic rearrangements of both

  2005cites this paper
• High proportion of recurrent germline mutations in the BRCA1 gene in breast and ovarian cancer patients from the Prague area

  2005cites this paper
• Large genomic rearrangements of both BRCA2 and BRCA1 are a feature of the inherited breast/ovarian cancer phenotype in selected families

  2005cites this paper
• Genetic testing in an ethnically diverse cohort of high-risk women: a comparative analysis of BRCA1 and BRCA2 mutations in American families of European and African ancestry.

  2005cites this paper
• Systematischer Vergleich der Testverfahren

  2005cites this paper
• De novo Alu element insertions targeted to a sequence common to the BRCA1 and BRCA2 genes

  2005cites this paper
• BRCA1 and BRCA2 Mutations in Breast and Ovarian Cancer Syndrome: Reflection on the Creighton University Historical Series of High Risk Families

  2005cites this paper
• Genomic rearrangements in the BRCA1 and BRCA2 genes

  2005influential citation
• Prevalence of five previously reported and recurrent BRCA1 genetic rearrangement mutations in 20,000 patients from hereditary breast/ovarian cancer families

  2005cites this paper
• Are Medullary Breast Cancers an Indication for BRCA1 Mutation Screening? A Mutation Analysis of 42 Cases of Medullary Breast Cancer

  2004cites this paper
• BRCA1 and BRCA2: 1994 and beyond

  2004cites this paper
• Understanding Germ-Line Mutations in BRCA1

  2004cites this paper
• The BRCA1 exon 13 duplication in the Swedish population

  2004cites this paper
• Acetyl-CoA carboxylase a gene and breast cancer susceptibility

  2004cites this paper
• Acetyl-CoA carboxylase alpha gene and breast cancer susceptibility.

  2004cites this paper
• Evolution of the tumor suppressor BRCA1 locus in primates: implications for cancer predisposition.

  2004cites this paper
• Large BRCA1 gene deletions are found in 3% of German high‐risk breast cancer families

  2004cites this paper
• BRCA1 mutations in South African breast and/or ovarian cancer families: Evidence of a novel founder mutation in Afrikaner families

  2004cites this paper
• Real‐time PCR‐based gene dosage assay for detecting BRCA1 rearrangements in breast–ovarian cancer families

  2004cites this paper
• Screening for large rearrangements of the BRCA1 gene in German breast or ovarian cancer families using semi‐quantitative multiplex PCR method

  2003cites this paper
• Susceptibility genes in hereditary breast cancer

  2003cites this paper
• Profile: Mary-Claire King

  2003cites this paper
• Evaluation of the diagnostic accuracy of the stop codon (SC) assay for identifying protein-truncating mutations in the BRCA1 and BRCA2 genes in familial breast cancer

  2003cites this paper
• Genomic rearrangements account for more than one-third of the BRCA1 mutations in northern Italian breast/ovarian cancer families.

  2003cites this paper
• Application of haplotype pair analysis for the identification of hemizygous loci

  2003cites this paper
• DNA array‐based method for detection of large rearrangements in the BRCA1 gene

  2002cites this paper
• Detection of large rearrangements of exons 13 and 22 in the BRCA1 gene in German families

  2002cites this paper