(Q37193409)

18 August 2017

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

1 reference

18 August 2017

Rafael D Mesquita

6

0 references

Carla B. Ripamonti

Carla B Ripamonti

12

0 references

Mara Colombo

Mara Colombo

11

0 references

Marcelo A Carvalho

Marcelo Carvalho

1

0 references

Siranoush Manoukian

Siranoush Manoukian

10

0 references

Paolo Radice

Paolo Radice

16

0 references

Alvaro Monteiro

18

Alvaro N A Monteiro

1 reference

18 August 2017

17

Scott A Grist

1 reference

18 August 2017

3

Rachel Karchin

1 reference

18 August 2017

7

Renato S Rodarte

1 reference

18 August 2017

15

Ake Borg

1 reference

18 August 2017

Maria A Pino

2

1 reference

18 August 2017

Jennifer Beddor

4

1 reference

18 August 2017

Martha Godinho-Netto

5

1 reference

18 August 2017

Danielle C Vaz

8

1 reference

18 August 2017

Viviane A Monteiro

9

1 reference

18 August 2017

Richard Rosenquist

13

1 reference

18 August 2017

Graeme Suthers

14

1 reference

18 August 2017

Blase Billack

19

1 reference

18 August 2017

language of work or name

English

0 references

publication date

17 October 2008

1 reference

18 August 2017

1 reference

18 August 2017

660

1 reference

18 August 2017

1-2

1 reference

18 August 2017

1-11

1 reference

Classifying Variants of Undetermined Significance in BRCA2 with protein likelihood ratios.

18 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2682550

Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2682550

Variation of breast cancer risk among BRCA1/2 carriers

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2682550

Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2682550

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2682550

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2682550

Functional impact of missense variants in BRCA1 predicted by supervised learning

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2682550

PANTHER version 6: protein sequence and function evolution data with expanded representation of biological pathways

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2682550

Functional assays for BRCA1 and BRCA2.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2682550

SAM-T04: what is new in protein-structure prediction for CASP6.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2682550

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2682550

nsSNPAnalyzer: identifying disease-associated nonsynonymous single nucleotide polymorphisms

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2682550

LS-SNP: large-scale annotation of coding non-synonymous SNPs based on multiple information sources.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2682550

Prevention and management of hereditary breast cancer

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2682550

Classification of BRCA1 missense variants of unknown clinical significance

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2682550

Interactions between BRCT repeats and phosphoproteins: tangled up in two

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2682550

BRCA1 and BRCA2: 1994 and beyond

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2682550

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2682550

UCSF Chimera--a visualization system for exploratory research and analysis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2682550

Understanding germ-line mutations in BRCA1.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2682550

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2682550

Structural consequences of a cancer-causing BRCA1-BRCT missense mutation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2682550

Human non-synonymous SNPs: server and survey

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2682550

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2682550

Crystal structure of the BRCT repeat region from the breast cancer-associated protein BRCA1

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2682550

Predicting deleterious amino acid substitutions

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2682550

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2682550

BRCA1: exploring the links to transcription

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2682550

Functional assay for BRCA1: mutagenesis of the COOH-terminal region reveals critical residues for transcription activation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2682550

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2682550

Human BRCA1 inhibits growth in yeast: potential use in diagnostic testing

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2682550

Evidence for a transcriptional activation function of BRCA1 C-terminal region

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2682550

Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2682550

Correlation of two-hybrid affinity data with in vitro measurements

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2682550

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2682550

Amino acid difference formula to help explain protein evolution

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2682550

A eukaryotic transcriptional activator bearing the DNA specificity of a prokaryotic repressor

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2682550

Structural basis of phosphopeptide recognition by the BRCT domain of BRCA1.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2682550

Inherited breast and ovarian cancer.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2682550

PMUT: a web-based tool for the annotation of pathological mutations on proteins.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2682550

Contact prediction using mutual information and neural nets

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2682550

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2682550

Structural basis for cell cycle checkpoint control by the BRCA1-CtIP complex.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2682550

Improving functional annotation of non-synonomous SNPs with information theory.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2682550

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2682550

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2682550

Common BRCA1 variants and transcriptional activation.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2682550

Genetic and Histopathologic Evaluation ofBRCA1andBRCA2DNA Sequence Variants of Unknown Clinical Significance

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2682550

CANCER: Enhanced: A Risky Business--Assessing Breast Cancer Risk

4 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2682550

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

4 December 2018

1 reference

12 December 2020

Transcriptional activation by BRCA1

1 reference

12 December 2020

Characterization of Common BRCA1 and BRCA2 Variants

1 reference

12 December 2020

Thermal unfolding of human BRCA1 BRCT-domain variants

1 reference

12 December 2020

Genetic variants of uncertain significance: flies in the ointment

1 reference

12 December 2020

BRCA1p.Val1688del Is a Deleterious Mutation That Recurs in Breast and Ovarian Cancer Families From Northeast Italy

1 reference

12 December 2020

10.1016/J.MRFMMM.2008.09.017

Identifiers

DOI

1 reference

18 August 2017

1 reference

18 August 2017

PubMed publication ID

18992264

1 reference