Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance.

No abstract is available for this paper.

• Publication year

  2006

• Venue

  Cancer Research

• Publication date

  2006-02-15

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1158/0008-5472.CAN-05-3546PMID 16489001
• 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.

• Thermal denaturation of the BRCT tandem repeat region of human tumour suppressor gene product BRCA1.

  2005cited by this paper
• Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral

  2005cited by this paper
• Molecular characterization and cancer risk associated with BRCA1 and BRCA2 splice site variants identified in multiple‐case breast cancer families

  2005cited by this paper
• Evolutionary conservation analysis increases the colocalization of predicted exonic splicing enhancers in the BRCA1 gene with missense sequence changes and in-frame deletions, but not polymorphisms

  2005cited by this paper
• Functional evaluation and cancer risk assessment of BRCA2 unclassified variants.

  2005cited by this paper
• Strong evidence that the common variant S384F in BRCA2 has no pathogenic relevance in hereditary breast cancer

  2005cited by this paper
• Methods to Classify BRCA1 Variants of Uncertain Clinical Significance: The More the Merrier

  2004cited by this paper
• Structure and mechanism of BRCA1 BRCT domain recognition of phosphorylated BACH1 with implications for cancer

  2004cited by this paper
• The effects of BRCA1 missense variants V1804D and M1628T on transcriptional activity.

  2004cited by this paper
• Structural basis of phosphopeptide recognition by the BRCT domain of BRCA1

  2004cited by this paper
• Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation

  2004cited by this paper
• Functional Characterization of BRCA1 Sequence Variants using a Yeast Small Colony Phenotype Assay

  2004cited by this paper
• Marsupial BRCA1: conserved regions in mammals and the potential effect of missense changes

  2004influential reference
• Structure-Based Assessment of Missense Mutations in Human BRCA1

  2004cited by this paper
• Simple cDNA normalization using kamchatka crab duplex-specific nuclease.

  2004cited by this paper
• 3DCoffee@igs: a web server for combining sequences and structures into a multiple sequence alignment

  2004cited by this paper
• Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2.

  2004influential reference
• Missense mutations in the BRCT domain of BRCA-1 from high-risk women frequently perturb strongly hydrophobic amino acids conserved among mammals.

  2004cited by this paper
• RNA analysis reveals splicing mutations and loss of expression defects in MLH1 and BRCA1

  2004cited by this paper
• Prevalence of BRCA1 mutation carriers among U.S. non-Hispanic Whites.

  2004cited by this paper
• Detection of Protein Folding Defects Caused by BRCA1-BRCT Truncation and Missense Mutations*

  2003cited by this paper
• ESEfinder: a web resource to identify exonic splicing enhancers

  2003influential reference
• A full-likelihood method for the evaluation of causality of sequence variants from family data.

  2003cited by this paper
• Understanding missense mutations in the BRCA1 gene: An evolutionary approach

  2003cited by this paper
• Aberrant splicing induced by missense mutations in BRCA1: clues from a humanized mouse model.

  2003cited by this paper
• RNA analysis of eight BRCA1 and BRCA2 unclassified variants identified in breast/ovarian cancer families from Spain

  2003cited by this paper
• Mutation spectrum of human SLC39A4 in a panel of patients with acrodermatitis enteropathica

  2003cited by this paper
• 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.

  2003cited by this paper
• The pathology of familial breast cancer: predictive value of immunohistochemical markers estrogen receptor, progesterone receptor, HER-2, and p53 in patients with mutations in BRCA1 and BRCA2.

  2002cited by this paper
• Establishing a control population to screen for the occurrence of nineteen unclassified variants in the BRCA1 gene by denaturing high-performance liquid chromatography.

  2002cited by this paper
• Characterization of Common BRCA1 and BRCA2 Variants

  2002cited by this paper
• Determination of topotecan in human whole blood and unwashed erythrocytes by high-performance liquid chromatography.

  2002cited by this paper
• Loss of heterozygosity analysis at the BRCA loci in tumor samples from patients with familial breast cancer

  2002cited by this paper
• Characterisation of the BRCT domains of the breast cancer susceptibility gene product BRCA1.

  2002cited by this paper
• Crystal structure of the BRCT repeat region from the breast cancer-associated protein BRCA1

  2001cited by this paper
• Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families.

  2001influential reference
• Clinical management of women with genomic BRCA1 and BRCA2 mutations*

  2001cited by this paper
• Structure of a BRCA1–BARD1 heterodimeric RING–RING complex

  2001cited by this paper
• Future possibilities in the prevention of breast cancer: Intervention strategies in BRCA1 and BRCA2 mutation carriers

  2000cited by this paper
• Functional assay for BRCA1: mutagenesis of the COOH-terminal region reveals critical residues for transcription activation.

  2000cited by this paper
• The pathology of familial breast cancer: histological features of cancers in families not attributable to mutations in BRCA1 or BRCA2.

  2000cited by this paper
• Molecular analysis of the BRCA1 and BRCA2 genes in 32 breast and/or ovarian cancer Spanish families

  2000cited by this paper
• Prevalence of BRCA1 and BRCA2 gene mutations in patients with early-onset breast cancer.

  1999cited by this paper
• Re: Multifactorial analysis of differences between sporadic breast cancers and cancers involving BRCA1 and BRCA2 mutations.

  1999cited by this paper
• De novo BRCA1 mutation in a patient with breast cancer and an inherited BRCA2 mutation.

  1999cited by this paper
• BRCA1 and BRCA2 gene mutations and risk of breast cancer. Public health perspectives.

  1999cited by this paper
• Breast cancer in Australian women under the age of 40

  1998cited by this paper
• Multifactorial analysis of differences between sporadic breast cancers and cancers involving BRCA1 and BRCA2 mutations.

  1998cited by this paper
• Double heterozygosity for mutations in the BRCA1 and BRCA2 genes in a breast cancer patient.

  1998cited by this paper
• Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium.

  1998cited by this paper
• The genetic attributable risk of breast and ovarian cancer

  1996influential reference
• Loss of heterozygosity in sporadic breast tumours at the BRCA2 locus on chromosome 13q12-q13.

  1995cited by this paper
• High allele loss rates at I7q I2‐q2I in breast and ovarian tumors from BRCAI‐linked families

  1995cited by this paper
• Consistent loss of the wild type allele in breast cancers from a family linked to the BRCA2 gene on chromosome 13q12-13.

  1995cited by this paper
• Different tumor types from BRCA2 carriers show wild-type chromosome deletions on 13q12-q13.

  1995cited by this paper
• High allele loss rates at 17q12-q21 in breast and ovarian tumors from BRCAl-linked families. The Breast Cancer Linkage Consortium.

  1995cited by this paper
• A common region of deletion on chromosome 17q in both sporadic and familial epithelial ovarian tumors distal to BRCA1.

  1994cited by this paper
• Two-trait-locus linkage analysis: a powerful strategy for mapping complex genetic traits.

  1993cited by this paper
• Allele losses in the region 17q12–21 in familial breast and ovarian cancer involve the wild–type chromosome

  1992cited by this paper
• Multiple K-ras codon 12 mutations in cholangiocarcinomas demonstrated with a sensitive polymerase chain reaction technique.

  1991cited by this paper

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  2024cites this paper
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  2024cites this paper
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  2023cites this paper
• Value of the loss of heterozygosity to BRCA1 variant classification

  2022cites this paper
• Value of the loss of heterozygosity to BRCA1 variant classification

  2022cites this paper
• A Population-Based Analysis of BRCA1/2 Genes and Associated Breast and Ovarian Cancer Risk in Korean Patients: A Multicenter Cohort Study

  2021cites this paper
• A likelihood‐based approach to assessing frequency of pathogenicity among variants of unknown significance in susceptibility genes

  2020cites this paper
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  2020cites this paper
• Associations of serum C-peptide and insulin-like growth factor binding proteins-3 with breast cancer deaths

  2020cites this paper
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  2020cites this paper
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  2020cites this paper
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  2020cites this paper
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  2020cites this paper
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  2020cites this paper
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  2019cites this paper
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  2019cites this paper
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  2019cites this paper
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  2019cites this paper
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  2019cites this paper
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  2018cites this paper
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  2018cites this paper
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  2018cites this paper
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  2018cites this paper
• 14 Epigenetics and Breast Cancer

  2017cites this paper
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  2017cites this paper
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  2017cites this paper
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  2017cites this paper
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  2017cites this paper
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  2016cites this paper
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  2016cites this paper
• Next Generation Diagnostic Molecular Pathology

  2016cites this paper
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  2016cites this paper
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  2016cites this paper
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  2016cites this paper
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  2016cites this paper
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  2016cites this paper
• Breast Cancer Risk Gene Discovery: Opportunities and Challenges

  2015cites this paper
• BRCA1 Circos: a visualisation resource for functional analysis of missense variants

  2015cites this paper
• BRCA1 and BRCA2 genetic testing-pitfalls and recommendations for managing variants of uncertain clinical significance.

  2015cites this paper
• Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.

  2015cites this paper
• University of Groningen A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2 genes based on cancer family history Garcia,

  2015influential citation
• Splicing analysis of 14 BRCA1 missense variants classifies nine variants as pathogenic

  2015cites this paper
• BRCA1 gene variant p.P142H associated with male breast cancer: a two-generation genealogic study and literature review

  2015cites this paper
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  2015cites this paper
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  2015cites this paper
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  2014cites this paper
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  2014cites this paper
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  2014cites this paper
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  2014cites this paper
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  2014cites this paper
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  2014cites this paper
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  2014cites this paper
• Pathogenicity evaluation of BRCA1 and BRCA2 unclassified variants identified in Portuguese breast/ovarian cancer families.

  2014cites this paper
• Analysis of BRCA2 loss of heterozygosity in tumor tissue using droplet digital polymerase chain reaction.

  2014cites this paper
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  2014influential citation
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  2014cites this paper
• Editorial: BRCA1 and BRCA2 gene mutations screening in sporadic breast cancer patients in Kazakhstan

  2013cites this paper
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  2013cites this paper
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  2013cites this paper
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  2013cites this paper
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  2013cites this paper
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  2013cites this paper
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  2013cites this paper
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  2013cites this paper
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  2012cites this paper
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  2012influential citation
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  2012cites this paper
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  2012cites this paper
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  2012cites this paper
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  2012cites this paper
• The BRCT Signaling 'Landscape': Emerging Concepts and Implications in Tumorigenesis and Cancer Diagnostics

  2012cites this paper
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  2012cites this paper
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  2012cites this paper
• Hereditary breast cancer: beyond BRCA genetic analysis; PALB2 emerges

  2012cites this paper
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  2012cites this paper
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  2012cites this paper
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  2011cites this paper
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  2011cites this paper
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  2011influential citation
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  2011cites this paper
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  2011cites this paper
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  2011cites this paper
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  2011cites this paper
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  2011cites this paper
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  2011cites this paper
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  2011cites this paper
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  2011cites this paper
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  2011cites this paper
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  2011cites this paper
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  2011cites this paper
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  2011cites this paper
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  2011cites this paper
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  2011cites this paper
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  2011cites this paper
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  2011cites this paper
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  2010cites this paper
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  2010cites this paper
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  2010cites this paper
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  2010cites this paper
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  2010cites this paper