Classification of missense substitutions in the BRCA genes: a database dedicated to Ex-UVs. (Q30485153)

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14 February 2020

title

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

1 reference

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14 February 2020

0 references

1

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14 February 2020

Fabienne Lesueur

5

1 reference

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14 February 2020

8

Fergus J Couch

1 reference

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14 February 2020

7

David E Goldgar

1 reference

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14 February 2020

author name string

Tiana C Francy

2

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14 February 2020

Megan K Judkins

3

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14 February 2020

Davit Babikyan

4

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14 February 2020

Amanda Gammon

6

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14 February 2020

Sean V Tavtigian

9

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14 February 2020

publication date

3 November 2011

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14 February 2020

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14 February 2020

volume

33

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14 February 2020

page(s)

22-28

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14 February 2020

issue

1

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DBASS3 and DBASS5: databases of aberrant 3'- and 5'-splice sites

14 February 2020

cites work

1 reference

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Clinical relevance of rare germline sequence variants in cancer genes: evolution and application of classification models

14 July 2018

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Characterization of BRCA1 ring finger variants of uncertain significance

14 July 2018

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Assessment of functional effects of unclassified genetic variants

14 July 2018

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Tumor characteristics as an analytic tool for classifying genetic variants of uncertain clinical significance.

14 July 2018

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

14 July 2018

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Genetic evidence and integration of various data sources for classifying uncertain variants into a single model

14 July 2018

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Clinically applicable models to characterize BRCA1 and BRCA2 variants of uncertain significance

14 July 2018

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Functional assays for classification of BRCA2 variants of uncertain significance

14 July 2018

1 reference

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

14 July 2018

1 reference

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

14 July 2018

1 reference

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Mouse models of BRCA1 and BRCA2 deficiency: past lessons, current understanding and future prospects

14 July 2018

1 reference

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3478957

LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach

14 July 2018

1 reference

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

14 July 2018

1 reference

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

14 July 2018

1 reference

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

14 July 2018

1 reference

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Biallelic inactivation of BRCA2 in Fanconi anemia

14 July 2018

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The breast cancer information core: database design, structure, and scope

14 July 2018

1 reference

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Evaluation of in silico splice tools for decision-making in molecular diagnosis.

14 July 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21629

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

21 January 2018

1 reference

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

21 January 2018

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Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications.

21 January 2018

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Identification of the breast cancer susceptibility gene BRCA2

21 January 2018

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Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals.

21 January 2018

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Genetic and Histopathologic Evaluation ofBRCA1andBRCA2DNA Sequence Variants of Unknown Clinical Significance

21 January 2018

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Clinical Classification ofBRCA1andBRCA2DNA Sequence Variants: The Value of Cytokeratin Profiles and Evolutionary Analysis—A Report From the kConFab Investigators

21 January 2018

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Germline mutations in BRCA2: shared genetic susceptibility to breast cancer, early onset leukemia, and Fanconi anemia

21 January 2018

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Functional evaluation and cancer risk assessment of BRCA2 unclassified variants

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21990165

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

PubMed

https://pubmed.ncbi.nlm.nih.gov/21990165

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21990165

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/HUMU.21629

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21990165%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21990165%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

1 reference