(Q33857421)

29 July 2017

title

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

1 reference

29 July 2017

2

Fergus J Couch

1 reference

29 July 2017

5

Alvaro N A Monteiro

1 reference

29 July 2017

3

David E Goldgar

1 reference

29 July 2017

4

Sean V Tavtigian

1 reference

Edwin Severin Iversen, Jr.

29 July 2017

series ordinal

1

object named as

Edwin S Iversen

1 reference

29 July 2017

publication date

29 March 2011

1 reference

Cancer Epidemiology, Biomarkers & Prevention

29 July 2017

published in

1 reference

29 July 2017

volume

20

1 reference

29 July 2017

issue

6

1 reference

29 July 2017

page(s)

1078-1088

1 reference

Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality

29 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=3111818

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3111818

BRCA1 and BRCA2 mutations across race and ethnicity: distribution and clinical implications

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3111818

Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3111818

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3111818

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3111818

Classification of Missense Mutations of Disease Genes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3111818

Population-Calibrated Gene Characterization: Estimating Age at Onset Distributions Associated With Cancer Genes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3111818

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3111818

Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3111818

Functional assays for 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=3111818

Prevalence of BRCA mutations and founder effect in high-risk Hispanic families

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3111818

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3111818

Classification of BRCA1 missense variants of unknown clinical significance

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3111818

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=3111818

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=3111818

Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3111818

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3111818

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3111818

Detection of protein folding defects caused by BRCA1-BRCT truncation and missense mutations

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3111818

Genetic and Histopathologic Evaluation ofBRCA1andBRCA2DNA Sequence Variants of Unknown Clinical Significance

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3111818

Genetic testing in an ethnically diverse cohort of high-risk women: a comparative analysis of BRCA1 and BRCA2 mutations in American families of European and African ancestry

29 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21447777

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1158/1055-9965.EPI-10-1214

1 reference

release_dwie26xojbfnjl7g3jlbd6jgj4

29 July 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/dwie26xojbfnjl7g3jlbd6jgj4

mapped directly with Wikidata item

24 November 2022

based on heuristic

PMC publication ID

3111818

1 reference

29 July 2017

1 reference