(Q30832030)

10 August 2017

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

1 reference

10 August 2017

1 reference

0 references

10

Lenka Foretova

1 reference

10 August 2017

Eva Machackova

2

1 reference

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

1 reference

10 August 2017

1 reference

10 August 2017

8

1 reference

10 August 2017

32

1 reference

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

10 August 2017

0 references

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

0 references

1 reference

10 August 2017

1 reference