(Q35350825)

7 August 2017

title

BRCA1 Circos: a visualisation resource for functional analysis of missense variants (English)

1 reference

7 August 2017

1 reference

3

Randall C Johnson

1 reference

7 August 2017

Nicolas Coquelle

12

0 references

Marcelo A Carvalho

Marcelo A Carvalho

27

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Maxime P Vallée

Maxime Vallée

23

0 references

Sandrine Caputo

Sandrine M Caputo

9

0 references

Alvaro Galli

Alvaro Galli

13

0 references

Amanda Spurdle

Amanda B Spurdle

7

0 references

Rob B van der Luijt

Rob B van der Luijt

17

0 references

Diana Eccles

Diana Eccles

14

0 references

Alvaro Monteiro

Alvaro N Monteiro

30

0 references

Susan L Neuhausen

19

Susan L Neuhausen

1 reference

7 August 2017

24

Fergus J Couch

1 reference

7 August 2017

15

Marinus J Blok

1 reference

7 August 2017

25

Sean V Tavtigian

1 reference

7 August 2017

2

Aneliya Velkova

1 reference

7 August 2017

8

Maaike P G Vreeswijk

1 reference

7 August 2017

1

Ankita Jhuraney

1 reference

7 August 2017

6

Phillip Whiley

1 reference

7 August 2017

21

Eva Machackova

1 reference

7 August 2017

28

Lawrence C Brody

1 reference

7 August 2017

10

Gael A Millot

1 reference

7 August 2017

Bailey Kessing

4

1 reference

7 August 2017

Renato S Carvalho

5

1 reference

7 August 2017

Ana Vega

11

1 reference

7 August 2017

Tuya Pal

16

1 reference

7 August 2017

Marta Santamariña Pena

18

1 reference

7 August 2017

Talia Donenberg

20

1 reference

7 August 2017

Simon Thomas

22

1 reference

7 August 2017

J N Mark Glover

26

1 reference

7 August 2017

Shyam K Sharan

29

1 reference

7 August 2017

Evidence-based Network for the Interpretation of Germline Mutant Alleles Consortium

31

1 reference

7 August 2017

language of work or name

English

0 references

publication date

2 February 2015

1 reference

Journal of Medical Genetics

7 August 2017

published in

1 reference

7 August 2017

volume

52

1 reference

7 August 2017

issue

4

1 reference

7 August 2017

page(s)

224-230

1 reference

describes a project that uses

7 August 2017

1 reference

Functional and structural analysis of C-terminal BRCA1 missense variants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392196

Analysis of BRCA1 variants in double-strand break repair by homologous recombination and single-strand annealing

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392196

A guide for functional analysis of BRCA1 variants of uncertain significance

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392196

Evolution and functional impact of rare coding variation from deep sequencing of human exomes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392196

Classification of missense substitutions in the BRCA genes: a database dedicated to Ex-UVs.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392196

A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392196

Assessment of human Nter and Cter BRCA1 mutations using growth and localization assays in yeast.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392196

Functional differences among BRCA1 missense mutations in the control of centrosome duplication

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392196

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392196

Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392196

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392196

No evidence of excess breast cancer risk among mutation-negative women from BRCA mutation-positive families

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392196

Identification of breast tumor mutations in BRCA1 that abolish its function in homologous DNA recombination

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392196

Expression of human BRCA1 variants in mouse ES cells allows functional analysis of BRCA1 mutations

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392196

Circos: an information aesthetic for comparative genomics

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392196

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392196

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392196

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392196

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392196

A prospective study of breast cancer risk in relatives of BRCA1/BRCA2 mutation carriers

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392196

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392196

The P1812A and P25T BRCA1 and the 5164del4 BRCA2 mutations: occurrence in high-risk non-Ashkenazi Jews.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392196

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392196

Classification of BRCA1 missense variants of unknown clinical significance

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392196

The BRCA1 RING and BRCT domains cooperate in targeting BRCA1 to ionizing radiation-induced nuclear foci

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392196

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392196

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392196

Cytoplasmic mislocalization of BRCA1 caused by cancer-associated mutations in the BRCT domain.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392196

A naturally occurring allele of BRCA1 coding for a temperature-sensitive mutant protein

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392196

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392196

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392196

Genetic analysis of BRCA1 function in a defined tumor cell line

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392196

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392196

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392196

The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392196

Identification of the breast cancer susceptibility gene BRCA2

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392196

Genetic linkage analysis in familial breast and ovarian cancer: results from 214 families. The Breast Cancer Linkage Consortium

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392196

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392196

Genetic analysis of breast cancer in the cancer and steroid hormone study

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392196

A high-throughput functional complementation assay for classification of BRCA1 missense variants

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392196

Functional analysis of BRCA1 missense variants of uncertain significance in Japanese breast cancer families

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392196

Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392196

A yeast recombination assay to characterize human BRCA1 missense variants of unknown pathological significance.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392196

Re-engineering a split-GFP reassembly screen to examine RING-domain interactions between BARD1 and BRCA1 mutants observed in cancer patients.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392196

Genetic, functional, and histopathological evaluation of two C-terminal BRCA1 missense variants

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392196

The effects of BRCA1 missense variants V1804D and M1628T on transcriptional activity.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392196

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392196

Direct-to-patient BRCA1 testing: the Twoj Styl experience

26 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25643705

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Sequence analysis of BRCA1 and BRCA2: correlation of mutations with family history and ovarian cancer risk

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25643705

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Prospective study of breast cancer risk for mutation negative women from BRCA1 or BRCA2 mutation positive families

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25643705

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMEDGENET-2014-102766

1 reference

7 August 2017

1 reference

7 August 2017

1 reference