(Q35622910)

9 August 2017

title

A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS). (English)

1 reference

9 August 2017

8

Fergus J Couch

1 reference

9 August 2017

3

Xianshu Wang

1 reference

9 August 2017

5

Alvaro N A Monteiro

1 reference

9 August 2017

1

Noralane M Lindor

1 reference

9 August 2017

7

David E Goldgar

1 reference

9 August 2017

6

Sean Tavtigian

1 reference

9 August 2017

4

Maxime P Vallée

1 reference

9 August 2017

2

Lucia Guidugli

1 reference

9 August 2017

publication date

3 November 2011

1 reference

9 August 2017

1 reference

9 August 2017

volume

33

1 reference

9 August 2017

issue

1

1 reference

9 August 2017

page(s)

8-21

1 reference

A computational method to classify variants of uncertain significance using functional assay data with application to BRCA1

9 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3242438

Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3242438

Expression of human BRCA1 variants in mouse ES cells allows functional analysis of BRCA1 mutations

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3242438

A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3242438

Characterization of BRCA1 ring finger variants of uncertain significance

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3242438

A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2 genes based on cancer family history

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3242438

Tumor characteristics as an analytic tool for classifying genetic variants of uncertain clinical significance.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3242438

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3242438

Genetic evidence and integration of various data sources for classifying uncertain variants into a single model

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3242438

Clinically applicable models to characterize BRCA1 and BRCA2 variants of uncertain significance

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3242438

Mouse embryonic stem cell-based functional assay to evaluate mutations in BRCA2

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3242438

Expression profiling of familial breast cancers demonstrates higher expression of FGFR2 in BRCA2-associated tumors

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3242438

Functional assays for classification of BRCA2 variants of uncertain significance

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3242438

The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3242438

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3242438

Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3242438

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3242438

Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3242438

The pathology of familial breast cancer: predictive value of immunohistochemical markers estrogen receptor, progesterone receptor, HER-2, and p53 in patients with mutations in BRCA1 and BRCA2.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3242438

Clinical Classification ofBRCA1andBRCA2DNA Sequence Variants: The Value of Cytokeratin Profiles and Evolutionary Analysis—A Report From the kConFab Investigators

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3242438

Genetic and Histopathologic Evaluation ofBRCA1andBRCA2DNA Sequence Variants of Unknown Clinical Significance

15 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3242438

LOH analysis should not be used as a tool to assess whether UVs of BRCA1/2 are pathogenic or not

15 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21990134

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FHUMU.21627

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/HUMU.21627

1 reference

9 August 2017

1 reference

9 August 2017

1 reference