(Q30373569)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19043619%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

title

Classifying Variants of Undetermined Significance in BRCA2 with protein likelihood ratios (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19043619%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

3

Andrej Sali

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19043619%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

4

Fergus Couch

2 references

17 August 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19043619%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

author name string

Rachel Karchin

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19043619%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Mukesh Agarwal

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19043619%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Mary S Beattie

series ordinal

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19043619%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

publication date

18 April 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19043619%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19043619%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

volume

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19043619%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

page(s)

203-216

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19043619%20AND%20SRC:MED&resulttype=core&format=json

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

17 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587343

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587343

Functional impact of missense variants in BRCA1 predicted by supervised learning

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587343

Statistical potential for assessment and prediction of protein structures

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587343

The Universal Protein Resource (UniProt): an expanding universe of protein information

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587343

DSS1 is required for the stability of BRCA2

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587343

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587343

DSS1 is required for RAD51 focus formation and genomic stability in mammalian cells

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587343

BRCA1 and BRCA2: 1994 and beyond

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587343

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587343

Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587343

Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587343

American Society of Clinical Oncology Policy Statement Update: Genetic Testing for Cancer Susceptibility

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587343

Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587343

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587343

Human non-synonymous SNPs: server and survey

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587343

Structure of the 53BP1 BRCT region bound to p53 and its comparison to the Brca1 BRCT structure

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587343

What is the value added by human intervention in protein structure prediction?

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587343

Characterization of disease-associated single amino acid polymorphisms in terms of sequence and structure properties.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587343

Predicting deleterious amino acid substitutions

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587343

20 June 2018

The Protein Data Bank

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587343

Cancer risks in BRCA2 mutation carriers

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587343

Interaction between the product of the breast cancer susceptibility gene BRCA2 and DSS1, a protein functionally conserved from yeast to mammals

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587343

Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587343

Comparative protein modelling by satisfaction of spatial restraints

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587343

Evaluating the yield of medical tests

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587343

Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario, Canada

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587343

Prevalence and Predictors ofBRCA1andBRCA2Mutations in a Population-Based Study of Breast Cancer in White and Black American Women Ages 35 to 64 Years

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587343

Genetic and Histopathologic Evaluation ofBRCA1andBRCA2DNA Sequence Variants of Unknown Clinical Significance

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587343

Structure-based assessment of missense mutations in human BRCA1: implications for breast and ovarian cancer predisposition.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587343

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

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587343

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

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587343

Functional evaluation and cancer risk assessment of BRCA2 unclassified variants

26 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19043619

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Clinical interpretation and recommendations for patients with a variant of uncertain significance in BRCA1 or BRCA2: a survey of genetic counseling practice

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19043619

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The BRCA2-Interacting Protein DSS1 Is Vital for DNA Repair, Recombination, and Genome Stability in Ustilago maydis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19043619

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.4137/CIN.S618

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19043619%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19043619%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

1 reference