Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis (Q34116553)

31 July 2017

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

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31 July 2017

15

Andrej Sali

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Katherine L Nathanson

14

object named as

Katherine L Nathanson

1 reference

31 July 2017

17

Fergus J Couch

1 reference

31 July 2017

4

Siranoush Manoukian

1 reference

31 July 2017

18

Paolo Radice

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31 July 2017

19

Alvaro N A Monteiro

1 reference

31 July 2017

7

Turan P Urmenyi

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31 July 2017

16

David Goldgar

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31 July 2017

1

Marcelo A Carvalho

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31 July 2017

5

Scott Grist

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31 July 2017

3

Rachel Karchin

1 reference

31 July 2017

2

Sylvia M Marsillac

1 reference

31 July 2017

Ramona F Swaby

6

1 reference

31 July 2017

Edson Rondinelli

8

1 reference

31 July 2017

Rosane Silva

9

1 reference

31 July 2017

Luis Gayol

10

1 reference

31 July 2017

Lisa Baumbach

11

1 reference

31 July 2017

Rebecca Sutphen

12

1 reference

31 July 2017

Jennifer L Pickard-Brzosowicz

13

1 reference

31 July 2017

language of work or name

English

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publication date

1 February 2007

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31 July 2017

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31 July 2017

67

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31 July 2017

4

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31 July 2017

1494-1501

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Functional impact of missense variants in BRCA1 predicted by supervised learning

31 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936786

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=2936786

Genetic analysis of BRCA1 ubiquitin ligase activity and its relationship to breast cancer susceptibility

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936786

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=2936786

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=2936786

Racial differences in the incidence of BRCA1 and BRCA2 mutations in a cohort of early onset breast cancer patients: African American compared to white women

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936786

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=2936786

Interactions between BRCT repeats and phosphoproteins: tangled up in two

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936786

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=2936786

UCSF Chimera--a visualization system for exploratory research and 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=2936786

Understanding germ-line mutations in 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=2936786

Structural basis of BACH1 phosphopeptide recognition by BRCA1 tandem BRCT domains

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936786

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=2936786

Structural basis of phosphopeptide recognition by the BRCT domain 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=2936786

Structure and mechanism of BRCA1 BRCT domain recognition of phosphorylated BACH1 with implications for cancer

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936786

Structure of the BRCT Repeats of BRCA1 Bound to a BACH1 Phosphopeptide

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936786

Functional characterization of BRCA1 sequence variants using a yeast small colony phenotype assay

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936786

Phosphopeptide Binding Specificities of BRCA1 COOH-terminal (BRCT) Domains

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936786

The BRCT Domain Is a Phospho-Protein Binding Domain

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936786

BRCT Repeats As Phosphopeptide-Binding Modules Involved in Protein Targeting

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936786

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=2936786

Understanding missense mutations in the BRCA1 gene: an evolutionary approach

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936786

The allelic structure of common disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936786

Crystal structure of human 53BP1 BRCT domains bound to p53 tumour suppressor

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936786

Structure of the 53BP1 BRCT region bound to p53 and its comparison to the Brca1 BRCT 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=2936786

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936786

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=2936786

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936786

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936786

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936786

Comparative protein modelling by satisfaction of spatial restraints

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936786

Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten 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=2936786

Correlation of two-hybrid affinity data with in vitro measurements

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936786

The folding of an enzyme. II. Substructure of barnase and the contribution of different interactions to protein stability

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936786

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936786

BRCA1 variants in a family study of African-American and Latina women

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936786

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936786

Structure of the BRCT repeats of BRCA1 bound to a BACH1 phosphopeptide: implications for signaling

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936786

Genetic counselling for familial breast and ovarian cancer in Ontario

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936786

BRCA1 mutations in African Americans

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936786

Common BRCA1 variants and transcriptional activation.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936786

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=2936786

Transcriptional activation by BRCA1

28 October 2018

1 reference

12 December 2020

Common BRCA1 variants and susceptibility to breast and ovarian cancer in the general population

1 reference

12 December 2020

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

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

Cancer risk assessment at the atomic level

1 reference

12 December 2020

10.1158/0008-5472.CAN-06-3297

Identifiers

DOI

1 reference

31 July 2017

1 reference

31 July 2017

1 reference