(Q35447780)

8 August 2017

title

Classification of BRCA1 missense variants of unknown clinical significance (English)

1 reference

8 August 2017

author

Georgia Chenevix-Trench

11

object named as

G Chenevix-Trench

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8 August 2017

7

S Manoukian

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8 August 2017

8

P Radice

1 reference

8 August 2017

19

S A Narod

1 reference

8 August 2017

20

A N A Monteiro

1 reference

8 August 2017

1

C M Phelan

1 reference

8 August 2017

V Dapic

2

1 reference

8 August 2017

B Tice

3

1 reference

8 August 2017

R Favis

4

1 reference

8 August 2017

E Kwan

5

1 reference

8 August 2017

F Barany

6

1 reference

8 August 2017

R B van der Luijt

9

1 reference

8 August 2017

B P M van Nesselrooij

10

1 reference

8 August 2017

kConFab

12

1 reference

8 August 2017

T Caldes

13

1 reference

8 August 2017

M de la Hoya

14

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8 August 2017

S Lindquist

15

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8 August 2017

S V Tavtigian

16

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8 August 2017

D Goldgar

17

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8 August 2017

A Borg

18

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8 August 2017

language of work or name

English

0 references

publication date

1 February 2005

1 reference

Journal of Medical Genetics

8 August 2017

published in

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8 August 2017

volume

42

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8 August 2017

issue

2

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8 August 2017

page(s)

138-146

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Yeast-based assays for detection and characterization of mutations in BRCA1.

8 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=1735988

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735988

Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735988

A full-likelihood method for the evaluation of causality of sequence variants from family data

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735988

Understanding missense mutations in the BRCA1 gene: an evolutionary approach

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735988

JunB potentiates function of BRCA1 activation domain 1 (AD1) through a coiled-coil-mediated interaction

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735988

Cancer susceptibility and the functions of BRCA1 and BRCA2

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735988

The BRCA1/BARD1 heterodimer, a tumor suppressor complex with ubiquitin E3 ligase activity

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735988

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735988

BRCA1 RING domain cancer-predisposing mutations. Structural consequences and effects on protein-protein interactions

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735988

Cancer-predisposing mutations within the RING domain of BRCA1: loss of ubiquitin protein ligase activity and protection from radiation hypersensitivity

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735988

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735988

Characterization of a novel trans-activation domain of BRCA1 that functions in concert with the BRCA1 C-terminal (BRCT) domain

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735988

Collaboration of signal transducer and activator of transcription 1 (STAT1) and BRCA1 in differential regulation of IFN-gamma target genes

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735988

Genetic analysis of BRCA1 function in a defined tumor cell line

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735988

BRCA1 protein is linked to the RNA polymerase II holoenzyme complex via RNA helicase A

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735988

The cancer-predisposing mutation C61G disrupts homodimer formation in the NH2-terminal BRCA1 RING finger domain

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735988

BRCA1 regulates p53-dependent gene expression

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735988

Arrest of the cell cycle by the tumour-suppressor BRCA1 requires the CDK-inhibitor p21WAF1/CiP1.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735988

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735988

BRCA1 is a component of the RNA polymerase II holoenzyme

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735988

A superfamily of conserved domains in DNA damage-responsive cell cycle checkpoint proteins

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735988

From BRCA1 to RAP1: a widespread BRCT module closely associated with DNA repair

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735988

Identification of seven new BRCA1 germline mutations in Italian breast and breast/ovarian cancer families

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735988

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735988

Human, canine and murine BRCA1 genes: sequence comparison among species.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735988

Comparison of BRCA1 polymorphisms, rare sequence variants and/or missense mutations in unaffected and breast/ovarian cancer populations

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735988

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735988

Predicting coiled coils by use of pairwise residue correlations

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735988

Germline mutation of BRCA1 in Japanese breast cancer families.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735988

Correlation of two-hybrid affinity data with in vitro measurements

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735988

The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735988

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735988

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735988

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735988

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735988

BRCA1 Associates with Processive RNA Polymerase II

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735988

Haplotype and linkage disequilibrium architecture for human cancer-associated genes

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735988

BRCA1 transcriptionally regulates damaged DNA binding protein (DDB2) in the DNA repair response following UV-irradiation.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735988

Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735988

BRCA1-associated tumorigenesis: what have we learned from knockout mice?

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735988

BRCA1: exploring the links to transcription

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735988

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735988

Common BRCA1 variants and transcriptional activation.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735988

BRCA1 mutations in primary breast and ovarian carcinomas

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735988

BRCA1 Facilitates Stress-induced Apoptosis in Breast and Ovarian Cancer Cell Lines

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735988

Allele losses in the region 17q12-21 in familial breast and ovarian cancer involve the wild-type chromosome

7 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735988

Universal DNA array detection of small insertions and deletions in BRCA1 and BRCA2

7 December 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

Transcriptional activation by BRCA1

1 reference

12 December 2020

Mutations and polymorphisms in the familial early-onset breast cancer (BRCA1) gene. Breast Cancer Information Core

1 reference

12 December 2020

Murine Brca1: sequence and significance for human missense mutations

1 reference

12 December 2020

Identification of missense and truncating mutations in the BRCA1 gene in sporadic and familial breast and ovarian cancer

1 reference

12 December 2020

Characterization of Common BRCA1 and BRCA2 Variants

1 reference

12 December 2020

Polygenic inheritance of breast cancer: Implications for design of association studies

1 reference

12 December 2020

Frequency of germline and somatic BRCA1 mutations in ovarian cancer

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.2004.024711

1 reference

8 August 2017

1 reference

8 August 2017

1 reference