(Q85333965)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23117300%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23117300%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

1 reference

Sarai Palanca

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23117300%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Inmaculada de Juan

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23117300%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Gema Perez-Simó

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23117300%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Eva Barragán

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23117300%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Isabel Chirivella

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23117300%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Eduardo Martínez

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23117300%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Oscar Fuster

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23117300%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Pascual Bolufer

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23117300%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

publication date

1 March 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23117300%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23117300%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

volume

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23117300%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23117300%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

page(s)

119-123

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23117300%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s10689-012-9579-6

16 February 2020

exact match

0 references

cites work

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

12 December 2020

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

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

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

1 reference

12 December 2020

Probability of carrying a mutation of breast-ovarian cancer gene BRCA1 based on family history.

1 reference

12 December 2020

An Alu-mediated 7.1 kb deletion of BRCA1 exons 8 and 9 in breast and ovarian cancer families that results in alternative splicing of exon 10

1 reference

12 December 2020

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

An Alu-mediated 6-kb duplication in the BRCA1 gene: a new founder mutation?

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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

Determining carrier probabilities for breast cancer-susceptibility genes BRCA1 and BRCA2

1 reference

12 December 2020

The BOADICEA model of genetic susceptibility to breast and ovarian cancer

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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

1 reference

12 December 2020

De novo Alu element insertions targeted to a sequence common to the BRCA1 and BRCA2 genes

1 reference

12 December 2020

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

1 reference

12 December 2020

The exon 13 duplication in the BRCA1 gene is a founder mutation present in geographically diverse populations. The BRCA1 Exon 13 Duplication Screening Group

1 reference

12 December 2020

Genomic rearrangements in the BRCA1 and BRCA2 genes.

1 reference

12 December 2020

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

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

Deletion of exons 1a-2 of BRCA1: a rather frequent pathogenic abnormality.

1 reference

12 December 2020