Functional assays for classification of BRCA2 variants of uncertain significance (Q34116524)

31 July 2017

title

Functional assays for classification of BRCA2 variants of uncertain significance (English)

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31 July 2017

12

Fergus J Couch

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31 July 2017

11

David E Goldgar

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31 July 2017

Daniel J Farrugia

1

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31 July 2017

Mukesh K Agarwal

2

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31 July 2017

Vernon S Pankratz

3

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31 July 2017

Amie M Deffenbaugh

4

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31 July 2017

Dmitry Pruss

5

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31 July 2017

Cynthia Frye

6

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31 July 2017

Linda Wadum

7

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31 July 2017

Kiley Johnson

8

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31 July 2017

Jennifer Mentlick

9

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31 July 2017

Sean V Tavtigian

10

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31 July 2017

language of work or name

English

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publication date

1 May 2008

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31 July 2017

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31 July 2017

volume

68

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31 July 2017

issue

9

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31 July 2017

page(s)

3523-3531

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A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes

31 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936780

Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936780

Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936780

Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936780

A full-likelihood method for the evaluation of causality of sequence variants from family data

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936780

BRCA2 function in DNA binding and recombination from a BRCA2-DSS1-ssDNA structure

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936780

Biallelic inactivation of BRCA2 in Fanconi anemia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936780

Brca2 (XRCC11) deficiency results in radioresistant DNA synthesis and a higher frequency of spontaneous deletions

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936780

Role of BRCA2 in control of the RAD51 recombination and DNA repair protein.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936780

BRCA2 is required for homology-directed repair of chromosomal breaks

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936780

Truncated BRCA2 is cytoplasmic: implications for cancer-linked mutations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936780

The BRC repeats in BRCA2 are critical for RAD51 binding and resistance to methyl methanesulfonate treatment

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936780

RAD51 interacts with the evolutionarily conserved BRC motifs in the human breast cancer susceptibility gene brca2

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936780

The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936780

Identification of the breast cancer susceptibility gene BRCA2

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936780

The BRCA2 variant 8204G>A is a splicing mutation and results in an in frame deletion of the gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936780

Mitotic checkpoint inactivation fosters transformation in cells lacking the breast cancer susceptibility gene, Brca2.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936780

Genetic and Histopathologic Evaluation ofBRCA1andBRCA2DNA Sequence Variants of Unknown Clinical Significance

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936780

Absence of Brca2 causes genome instability by chromosome breakage and loss associated with centrosome amplification

28 October 2018

1 reference

12 December 2020

Detection of rare major genes in lipid levels

1 reference

12 December 2020

Functional evaluation and cancer risk assessment of BRCA2 unclassified variants

1 reference

12 December 2020

Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations

1 reference

12 December 2020

An analysis of unclassified missense substitutions in human BRCA1

1 reference

12 December 2020

A Missense Mutation in Exon 13 in BRCA2, c.7235G>A, Results in Skipping of Exon 13

1 reference

12 December 2020

Characterization of Common BRCA1 and BRCA2 Variants

1 reference

12 December 2020

10.1158/0008-5472.CAN-07-1587

Identifiers

DOI

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31 July 2017

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31 July 2017

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