High occurrence of BRCA1 intragenic rearrangements in hereditary breast and ovarian cancer syndrome in the Czech Republic (Q30832030)

10 August 2017

High occurrence of BRCA1 intragenic rearrangements in hereditary breast and ovarian cancer syndrome in the Czech Republic (English)

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10 August 2017

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10

Lenka Foretova

1 reference

10 August 2017

Eva Machackova

2

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ORCID Public Data File 2021

author name string

Petra Vasickova

1

1 reference

10 August 2017

Miroslava Lukesova

3

1 reference

10 August 2017

Jiri Damborsky

4

1 reference

10 August 2017

Ondrej Horky

5

1 reference

10 August 2017

Hana Pavlu

6

1 reference

10 August 2017

Jitka Kuklova

7

1 reference

10 August 2017

Veronika Kosinova

8

1 reference

10 August 2017

Marie Navratilova

9

1 reference

10 August 2017

11 June 2007

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10 August 2017

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10 August 2017

8

1 reference

10 August 2017

32

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https://scigraph.springernature.com/pub.10.1186/1471-2350-8-32

10 August 2017

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cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904436

Genomic rearrangements in the BRCA1 and BRCA2 genes.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904436

Characterization of a novel large deletion and single point mutations in the BRCA1 gene in a Greek cohort of families with suspected hereditary breast cancer

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904436

Structural basis of phosphopeptide recognition by the BRCT domain of BRCA1.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904436

Structure and mechanism of BRCA1 BRCT domain recognition of phosphorylated BACH1 with implications for cancer

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904436

Structure of the BRCT Repeats of BRCA1 Bound to a BACH1 Phosphopeptide

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904436

Real-time PCR-based gene dosage assay for detecting BRCA1 rearrangements in breast-ovarian cancer families.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904436

Breast and ovarian cancer

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904436

Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904436

Structural consequences of a cancer-causing BRCA1-BRCT missense mutation

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904436

The detection of large deletions or duplications in genomic DNA.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904436

Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904436

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904436

Distinct BRCA1 rearrangements involving the BRCA1 pseudogene suggest the existence of a recombination hot spot

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904436

Structure of the 53BP1 BRCT region bound to p53 and its comparison to the Brca1 BRCT structure

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904436

Crystal structure of the BRCT repeat region from the breast cancer-associated protein BRCA1

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904436

Screening for genomic rearrangements in families with breast and ovarian cancer identifies BRCA1 mutations previously missed by conformation-sensitive gel electrophoresis or sequencing

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904436

Complex germline rearrangement of BRCA1 associated with breast and ovarian cancer.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904436

Roles of BRCA1 and its interacting proteins

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904436

Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904436

BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904436

Complete genomic sequence and analysis of 117 kb of human DNA containing the gene BRCA1

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904436

Inheritance of human breast cancer: evidence for autosomal dominant transmission in high-risk families

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904436

Bar code screening on combed DNA for large rearrangements of the BRCA1 and BRCA2 genes in French breast cancer families

14 July 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-32

Screening for large rearrangements of the BRCA1 gene in German breast or ovarian cancer families using semi-quantitative multiplex PCR method.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-32

Large BRCA1 gene deletions are found in 3% of German high-risk breast cancer families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-32

BRCA1 and BRCA2 mutations in women with familial or early-onset breast/ovarian cancer in the Czech Republic

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-32

Structural basis for cell cycle checkpoint control by the BRCA1-CtIP complex.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-32

Detection of protein folding defects caused by BRCA1-BRCT truncation and missense mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-32

Exclusion of large deletions and other rearrangements in BRCA1 and BRCA2 in Finnish breast and ovarian cancer families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-32

Structure of the BRCT repeats of BRCA1 bound to a BACH1 phosphopeptide: implications for signaling

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904436

Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group.

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904436

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

25 November 2018

1 reference

12 December 2020

In-frame deletions of BRCA1 may define critical functional domains

1 reference

12 December 2020

Color bar coding the BRCA1 gene on combed DNA: a useful strategy for detecting large gene rearrangements

1 reference

12 December 2020

Identification of BRCA1 and BRCA2 carriers by allele-specific gene expression (AGE) analysis

1 reference

12 December 2020

Variation in BRCA1 cancer risks by mutation position

1 reference

12 December 2020

Significant contribution of large BRCA1 gene rearrangements in 120 French breast and ovarian cancer families

1 reference

12 December 2020

The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons

1 reference

12 December 2020

Genomic rearrangements account for more than one-third of the BRCA1 mutations in northern Italian breast/ovarian cancer families

1 reference

12 December 2020

Identification of a 14 kb deletion involving the promoter region of BRCA1 in a breast cancer family

1 reference

12 December 2020

Screening for germ-line rearrangements and regulatory mutations in BRCA1 led to the identification of four new deletions

1 reference

12 December 2020

Genomic rearrangements at the BRCA1 locus in Spanish families with breast/ovarian cancer.

1 reference

12 December 2020

Identifiers

DOI

10.1186/1471-2350-8-32

1 reference

Dimensions Publication ID

10 August 2017

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10 August 2017

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