A de novo complete BRCA1 gene deletion identified in a Spanish woman with early bilateral breast cancer (Q24632225)

2

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Antonio Fernandez-Serra

3

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Luis Rubio

4

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Francisco Llopis

5

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Ana Garcia

6

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Pilar Llombart

7

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Jose A Lopez-Guerrero

High proportion of recurrent germline mutations in the BRCA1 gene in breast and ovarian cancer patients from the Prague area

8

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language of work or name

English

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publication date

2011

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published in

BMC Medical Genetics

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volume

12

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issue

1

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page(s)

134

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cites work

1 reference

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Unique de novo mutation of BRCA2 in a woman with early onset breast cancer

7 April 2017

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

7 April 2017

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Physical mapping, cloning, and identification of genes within a 500-kb region containing BRCA1

7 April 2017

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Inhibition of poly(ADP-ribose) polymerase in tumors from BRCA mutation carriers

7 April 2017

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

7 April 2017

1 reference

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Isolation and characterisation of the NBR2 gene which lies head to head with the human BRCA1 gene

7 April 2017

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DNA repair pathways as targets for cancer therapy

7 April 2017

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Brca1 controls homology-directed DNA repair

7 April 2017

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Identification of the breast cancer susceptibility gene BRCA2

7 April 2017

1 reference

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Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and advanced breast cancer: a proof-of-concept trial

7 April 2017

1 reference

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Poly(ADP-Ribose) polymerase inhibition: "targeted" therapy for triple-negative breast cancer

26 May 2017

1 reference

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

27 September 2017

1 reference

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Human Splicing Finder: an online bioinformatics tool to predict splicing signals

27 September 2017

1 reference

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Neurogenin 2 controls cortical neuron migration through regulation of Rnd2.

27 September 2017

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Novel de novo BRCA2 mutation in a patient with a family history of breast cancer

27 September 2017

1 reference

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

27 September 2017

1 reference

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The kinase domain of titin controls muscle gene expression and protein turnover

27 September 2017

1 reference

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

27 September 2017

1 reference

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

27 September 2017

1 reference

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De novo recurrent germline mutation of the BRCA2 gene in a patient with early onset breast cancer

27 September 2017

1 reference

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

27 September 2017

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A novel gene encoding a B-box protein within the BRCA1 region at 17q21.1.

27 September 2017

1 reference

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A novel de novo BRCA2 mutation of paternal origin identified in a Spanish woman with early onset bilateral breast cancer

27 September 2017

1 reference

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Germline BRCA1 mutations and a basal epithelial phenotype in breast cancer

30 May 2018

1 reference

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Complex germline rearrangement of BRCA1 associated with breast and ovarian cancer

30 May 2018

1 reference

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

30 May 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-12-134

Pathologic complete response rates in young women with BRCA1-positive breast cancers after neoadjuvant chemotherapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-12-134

Characterisation of a 161 kb deletion extending from the NBR1 to the BRCA1 genes in a French breast-ovarian cancer family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-12-134

De novo BRCA1 mutation in a patient with breast cancer and an inherited BRCA2 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-12-134

Identification of a de novo BRCA1 mutation in a woman with early onset bilateral breast cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-12-134

Mutations at BRCA1: the medullary breast carcinoma revisited.

21 January 2018

1 reference

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Are Medullary Breast Cancers an Indication for BRCA1 Mutation Screening? A Mutation Analysis of 42 Cases of Medullary Breast Cancer

28 November 2018

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12 December 2020

Case report: de novo BRCA2 gene mutation in a 35-year-old woman with breast cancer

1 reference

12 December 2020

Genetic/familial high-risk assessment: breast and ovarian

1 reference

12 December 2020

Mutation analysis of BRCA1 and BRCA2 genes in Iranian high risk breast cancer families

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

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Elevated microsatellite instability at selected tetranucleotide repeats does not correlate with clinicopathologic features of bladder cancer

1 reference

12 December 2020

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

1 reference

12 December 2020