(Q35135929)

English

Large genomic rearrangements of BRCA1 and BRCA2 among patients referred for genetic analysis in Galicia (NW Spain): delimitation and mechanism of three novel BRCA1 rearrangements

scientific article

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

6 August 2017

Large genomic rearrangements of BRCA1 and BRCA2 among patients referred for genetic analysis in Galicia (NW Spain): delimitation and mechanism of three novel BRCA1 rearrangements (English)

1 reference

Europe PubMed Central

6 August 2017

object named as

Laura Fachal

1

0 references

Ángel Carracedo

object named as

Angel Carracedo

4

0 references

author name string

Ana Blanco

2

1 reference

Europe PubMed Central

6 August 2017

Marta Santamariña

3

1 reference

Europe PubMed Central

6 August 2017

Ana Vega

5

1 reference

Europe PubMed Central

6 August 2017

language of work or name

0 references

publication date

31 March 2014

1 reference

Europe PubMed Central

6 August 2017

1 reference

Europe PubMed Central

6 August 2017

9

1 reference

Europe PubMed Central

6 August 2017

3

1 reference

Europe PubMed Central

6 August 2017

e93306

1 reference

Europe PubMed Central

6 August 2017

copyright license

Creative Commons Attribution 4.0 International

31 March 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

0 references

Mutational analysis of BRCA1 and BRCA2 in hereditary breast and ovarian cancer families from Asturias (Northern Spain).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3970959

13 July 2018

Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3970959

13 July 2018

Multiple local and recent founder effects of TGM1 in Spanish families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3970959

13 July 2018

Characterization of four novel BRCA2 large genomic rearrangements in Spanish breast/ovarian cancer families: review of the literature, and reevaluation of the genetic mechanisms involved in their origin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3970959

13 July 2018

A de novo complete BRCA1 gene deletion identified in a Spanish woman with early bilateral breast cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3970959

13 July 2018

Large genomic rearrangements of the BRCA1 and BRCA2 genes: review of the literature and report of a novel BRCA1 mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3970959

13 July 2018

Identification and comprehensive characterization of large genomic rearrangements in the BRCA1 and BRCA2 genes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3970959

13 July 2018

Mechanisms for human genomic rearrangements

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3970959

13 July 2018

Analysis of large deletions in BRCA1, BRCA2 and PALB2 genes in Finnish breast and ovarian cancer families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3970959

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3970959

13 July 2018

The R71G BRCA1 is a founder Spanish mutation and leads to aberrant splicing of the transcript

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3970959

13 July 2018

Identification of the breast cancer susceptibility gene BRCA2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3970959

13 July 2018

A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3970959

13 July 2018

Novel and recurrent BRCA1/BRCA2 mutations in early onset and familial breast and ovarian cancer detected in the Program of Genetic Counseling in Cancer of Valencian Community (eastern Spain). Relationship of family phenotypes with mutation prevalenc

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3970959

27 September 2018

Systematic detection of pathogenic alu element insertions in NGS-based diagnostic screens: the BRCA1/BRCA2 example

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3970959

27 September 2018

International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3970959

27 September 2018

MLPA screening in the BRCA1 gene from 1,506 German hereditary breast cancer cases: novel deletions, frequent involvement of exon 17, and occurrence in single early-onset cases.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3970959

27 September 2018

The c.156_157insAlu BRCA2 rearrangement accounts for more than one-fourth of deleterious BRCA mutations in northern/central Portugal.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3970959

27 September 2018

Genetic analysis of BRCA1 and BRCA2 in breast/ovarian cancer families from Aragon (Spain): two novel truncating mutations and a large genomic deletion in BRCA1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3970959

27 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3970959

27 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3970959

27 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3970959

27 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3970959

27 September 2018

Identification of a novel BRCA1 large genomic rearrangement in a Spanish breast/ovarian cancer family

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0093306

21 January 2018

Analysis of BRCA1 and BRCA2 in breast and breast/ovarian cancer families shows population substructure in the Iberian peninsula

1 reference

https://pubmed.ncbi.nlm.nih.gov/24686251

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of rare complete BRCA1 gene deletion using a combination of SNP haplotype analysis, MLPA and array-CGH techniques

1 reference

https://pubmed.ncbi.nlm.nih.gov/24686251

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases. Anglian Breast Cancer Study Group

1 reference

https://pubmed.ncbi.nlm.nih.gov/24686251

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Large genomic rearrangements in mutation-negative BRCA families: a population-based study

1 reference

https://pubmed.ncbi.nlm.nih.gov/24686251

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The deletion of exons 3-5 of BRCA1 is the first founder rearrangement identified in breast and/or ovarian cancer Spanish families

1 reference

https://pubmed.ncbi.nlm.nih.gov/24686251

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

High variability in CYP21A2 mutated alleles in Spanish 21-hydroxylase deficiency patients, six novel mutations and a founder effect

1 reference

https://pubmed.ncbi.nlm.nih.gov/24686251

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/24686251

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1371/JOURNAL.PONE.0093306

1 reference

Europe PubMed Central

6 August 2017

2014PLoSO...993306F

0 references

1 reference

Europe PubMed Central

6 August 2017

1 reference

Europe PubMed Central

6 August 2017

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q35135929&oldid=1862201139"