(Q34562526)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21637503%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

title

Genomic rearrangements in BRCA1 and BRCA2: A literature review (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21637503%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21637503%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Patricia Ashton-Prolla

6

object named as

Patricia Ashton-Prolla

1 reference

2 February 2020

5

Roberto Giugliani

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21637503%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

author name string

Ingrid Petroni Ewald

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21637503%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Patricia Lisboa Izetti Ribeiro

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21637503%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Silvia Liliana Cossio

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21637503%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

publication date

1 July 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21637503%20AND%20SRC:MED&resulttype=core&format=json

Genetics and Molecular Biology

2 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21637503%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

volume

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21637503%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

page(s)

437-446

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21637503%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21637503%20AND%20SRC:MED&resulttype=core&format=json

From cytogenetics to next-generation sequencing technologies: advances in the detection of genome rearrangements in tumors

2 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3036053

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3036053

MLPA and MAPH: sensitive detection of deletions and duplications

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3036053

High-resolution oligonucleotide array-CGH applied to the detection and characterization of large rearrangements in the hereditary breast cancer gene BRCA1.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3036053

Evidence for common ancestral origin of a recurring BRCA1 genomic rearrangement identified in high-risk Hispanic families

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3036053

The protein truncation test in mutation detection and molecular diagnosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3036053

Analysis of extended genomic rearrangements in oncological research.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3036053

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3036053

The CHEK2 gene and inherited breast cancer susceptibility

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3036053

Large genomic deletions inactivate the BRCA2 gene in breast cancer families

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3036053

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3036053

Genomic rearrangements in the BRCA1 and BRCA2 genes.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3036053

Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3036053

Evolution of the tumor suppressor BRCA1 locus in primates: implications for cancer predisposition.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3036053

BRCA1 and BRCA2: 1994 and beyond

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3036053

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3036053

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3036053

The detection of large deletions or duplications in genomic DNA.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3036053

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3036053

The role of Alu repeat clusters as mediators of recurrent chromosomal aberrations in tumors

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3036053

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3036053

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3036053

Absence of rearrangements in the BRCA2 gene in human cancers.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3036053

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3036053

Screening for BRCA2 mutations in 81 Dutch breast-ovarian cancer families

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3036053

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3036053

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3036053

The BRCA1 and 1A1.3B promoters are parallel elements of a genomic duplication at 17q21.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3036053

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3036053

The 5' end of the BRCA1 gene lies within a duplicated region of human chromosome 17q21.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3036053

Processed pseudogenes: characteristics and evolution

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3036053

Identification of a large rearrangement of the BRCA1 gene using colour bar code on combed DNA in an American breast/ovarian cancer family previously studied by direct sequencing

7 July 2018

1 reference

https://api.crossref.org/works/10.1590%2FS1415-47572009005000049

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS1415-47572009005000049

MLPA mutation detection in Argentine HNPCC and FAP families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS1415-47572009005000049

Screening for large rearrangements of the BRCA2 gene in Spanish families with breast/ovarian cancer.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS1415-47572009005000049

Large BRCA1 and BRCA2 genomic rearrangements in Danish high risk breast-ovarian cancer families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS1415-47572009005000049

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/10.1590%2FS1415-47572009005000049

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/10.1590%2FS1415-47572009005000049

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/10.1590%2FS1415-47572009005000049

Screening for a BRCA2 rearrangement in high-risk breast/ovarian cancer families: evidence for a founder effect and analysis of the associated phenotypes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS1415-47572009005000049

BRCA1 and BRCA2 germline mutational spectrum and evidence for genetic anticipation in Portuguese breast/ovarian cancer families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS1415-47572009005000049

Detection and precise mapping of germline rearrangements in BRCA1, BRCA2, MSH2, and MLH1 using zoom-in array comparative genomic hybridization (aCGH).

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS1415-47572009005000049

Haplotype analysis of BRCA1 gene reveals a new gene rearrangement: characterization of a 19.9 KBP deletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS1415-47572009005000049

Low frequency of large genomic rearrangements of BRCA1 and BRCA2 in western Denmark.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS1415-47572009005000049

Ten genes for inherited breast cancer.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS1415-47572009005000049

Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS1415-47572009005000049

No Evidence of BRCA1/2 genomic rearrangements in high-risk French-Canadian breast/ovarian cancer families

21 January 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Identification of novel BRCA large genomic rearrangements in Singapore Asian breast and ovarian patients with cancer

1 reference

12 December 2020

Prevalence of five previously reported and recurrent BRCA1 genetic rearrangement mutations in 20,000 patients from hereditary breast/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

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

1 reference

12 December 2020

Identification of a 3 kb Alu-mediated BRCA1 gene rearrangement in two breast/ovarian cancer families

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

Comparison of a quantitative PCR method with FISH for the assessment of the four aneuploidies commonly evaluated in CLL patients

1 reference

12 December 2020

BRCA1 and BRCA2 point mutations and large rearrangements in breast and ovarian cancer families in Northern Poland

1 reference

12 December 2020

Significant contribution of germline BRCA2 rearrangements in male breast cancer families

1 reference

12 December 2020

A deletion/insertion mutation in the BRCA2 gene in a breast cancer family: a possible role of the Alu-polyA tail in the evolution of the deletion

1 reference

12 December 2020

10.1590/S1415-47572009005000049

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21637503%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21637503%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

1 reference