A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes (Q36492194)

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

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

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

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Douglas F. Easton

1

object named as

Douglas F Easton

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Europe PubMed Central

PMC publication ID

14 August 2017

Fergus J. Couch

10

object named as

Fergus J Couch

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Alvaro Monteiro

8

object named as

Alvaro N A Monteiro

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

11

object named as

David E Goldgar

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Sean V Tavtigian

7

object named as

Sean V Tavtigian

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Edwin Severin Iversen, Jr.

9

object named as

Edwin S Iversen

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Amie M Deffenbaugh

2

object named as

Amie M Deffenbaugh

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

author name string

Dmitry Pruss

3

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Cynthia Frye

4

1 reference

Europe PubMed Central

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14 August 2017

Richard J Wenstrup

5

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Kristina Allen-Brady

6

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Europe PubMed Central

PMC publication ID

14 August 2017

language of work or name

0 references

publication date

6 September 2007

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Europe PubMed Central

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14 August 2017

American Journal of Human Genetics

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Europe PubMed Central

PMC publication ID

14 August 2017

81

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Europe PubMed Central

PMC publication ID

14 August 2017

5

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

873-883

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Classification of Missense Mutations of Disease Genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265654

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265654

30 September 2017

Functional impact of missense variants in BRCA1 predicted by supervised learning

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265654

30 September 2017

The use of microsatellite instability, immunohistochemistry and other variables in determining the clinical significance of MLH1 and MSH2 unclassified variants in Lynch syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265654

30 September 2017

Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265654

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265654

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265654

30 September 2017

Classification of BRCA1 missense variants of unknown clinical significance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265654

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265654

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265654

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265654

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265654

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265654

30 September 2017

Biallelic inactivation of BRCA2 in Fanconi anemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265654

30 September 2017

Prediction of deleterious human alleles

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265654

30 September 2017

Missense mutations in disease genes: a Bayesian approach to evaluate causality

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265654

30 September 2017

Recommendations for follow-up care of individuals with an inherited predisposition to cancer. II. BRCA1 and BRCA2. Cancer Genetics Studies Consortium

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265654

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265654

30 September 2017

Brca1 deficiency results in early embryonic lethality characterized by neuroepithelial abnormalities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265654

30 September 2017

Strategies for multilocus linkage analysis in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265654

30 September 2017

Amino acid difference formula to help explain protein evolution

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265654

30 September 2017

Consistent loss of the wild type allele in breast cancers from a family linked to the BRCA2 gene on chromosome 13q12-13.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265654

28 June 2018

Genetic, functional, and histopathological evaluation of two 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=2265654

21 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265654

21 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265654

21 September 2018

Methods to classify BRCA1 variants of uncertain clinical significance: the more the merrier

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265654

21 September 2018

The pathology of familial breast cancer: predictive value of immunohistochemical markers estrogen receptor, progesterone receptor, HER-2, and p53 in patients with mutations in BRCA1 and BRCA2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265654

21 September 2018

Understanding human disease mutations through the use of interspecific genetic variation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265654

21 September 2018

A targeted mouse Brca1 mutation removing the last BRCT repeat results in apoptosis and embryonic lethality at the headfold stage.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265654

21 September 2018

Genetic and Histopathologic Evaluation ofBRCA1andBRCA2DNA Sequence Variants of Unknown Clinical Significance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265654

4 December 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265654

4 December 2018

Cancer risk assessment at the atomic level

1 reference

https://pubmed.ncbi.nlm.nih.gov/17924331

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

https://pubmed.ncbi.nlm.nih.gov/17924331

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Functional evaluation and cancer risk assessment of BRCA2 unclassified variants

1 reference

https://pubmed.ncbi.nlm.nih.gov/17924331

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Transcriptional activation by BRCA1

1 reference

https://pubmed.ncbi.nlm.nih.gov/17924331

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An analysis of unclassified missense substitutions in human BRCA1

1 reference

https://pubmed.ncbi.nlm.nih.gov/17924331

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Classification of missense variants of unknown significance inBRCA1based on clinical and tumor information

1 reference

https://pubmed.ncbi.nlm.nih.gov/17924331

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

ResearchGate publication ID

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