Functional assays for analysis of variants of uncertain significance in BRCA2. - Test2 - elhamkhani - TriplyDB

Functional assays for analysis of variants of uncertain significance in BRCA2.

Functional assays for analysis of variants of uncertain significance in BRCA2.

http://www.wikidata.org/entity/Q37715826

about

Molding BRCA2 function through its interacting partners Two decades after BRCA: setting paradigms in personalized cancer care and prevention BCL2 mutations are associated with increased risk of transformation and shortened survival in follicular lymphoma Massively Parallel Functional Analysis of BRCA1 RING Domain Variants.Autologous hematopoietic stem cell transplantation in lymphoma patients is associated with a decrease in the double strand break repair capacity of peripheral blood lymphocytes Poly(ADP-Ribose) Mediates the BRCA2-Dependent Early DNA Damage Response.Heterozygous PALB2 c.1592delT mutation channels DNA double-strand break repair into error-prone pathways in breast cancer patients.BRCA1 and BRCA2 genetic testing-pitfalls and recommendations for managing variants of uncertain clinical significance.Genomic Biomarkers for Breast Cancer Risk.Insights into the genetic foundations of human communication.Classification and Clinical Management of Variants of Uncertain Significance in High Penetrance Cancer Predisposition Genes.Hereditary breast and ovarian cancer: new genes in confined pathways.An efficient pipeline for the generation and functional analysis of human BRCA2 variants of uncertain significance.BRCA Share: A Collection of Clinical BRCA Gene Variants.Predicting the Pathogenic Potential of BRCA1 and BRCA2 Gene Variants Identified in Clinical Genetic Testing Genome editing of factor X in zebrafish reveals unexpected tolerance of severe defects in the common pathway.Accurate quantification of homologous recombination in zebrafish: brca2 deficiency as a paradigm.The impact of hereditary cancer gene panels on clinical care and lessons learned.Mutational signatures of non-homologous and polymerase theta-mediated end-joining in embryonic stem cells.CRIMEtoYHU: a new web tool to develop yeast-based functional assays for characterizing cancer-associated missense variants.Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples.Characterization of BRCA1 and BRCA2 variants found in a Norwegian breast or ovarian cancer cohort.Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches.Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer.Mutations in BRCA1, BRCA2, and PALB2, and a panel of 50 cancer-associated genes in pancreatic ductal adenocarcinoma.Investigating the effect of 28 BRCA1 and BRCA2 mutations on their related transcribed mRNA

P2860

Q28085603-2FB2A3B6-075D-4363-B0CB-ACE33EBF4906 Q33820594-F4AD72A0-9AAA-4F76-8145-F7EEED315B02 Q35004965-716F2998-ADEA-4280-8D7C-839401620470 Q35821029-3C319B01-004B-4F5C-B92B-0E6E58862C31 Q36282672-0C84998C-5BFF-4BEB-A1FB-38B4D4B2803C Q36694981-E0F4298F-551C-4B71-88E4-4FD9BEDCC40E Q37128441-7E2516C7-1815-4CF7-A769-8D4FBD74963A Q37220433-BA5A4DF0-11D9-4609-B08D-F98F2CD57159 Q37242239-30DEE390-DC53-42BF-913F-D924F6427BCD Q38322139-D4ABD93F-3D8A-4E66-AC97-24473930D8B9 Q38700025-CEA27D06-1918-4C49-8B74-F9DC53EB894B Q38925408-8F8F1B7B-B3DF-4AEC-9D6E-98F38AE83687 Q38963829-AEACFA7A-F94B-4B49-B353-B4EE1688D98D Q39384483-BEAEDD94-1EC6-4144-BE88-037F2454B510 Q41485383-90E95790-37AC-441B-B062-E5F000CA8439 Q43801561-9AB27271-B0E7-47C5-9627-DABBA32B41C9 Q47142663-ABDB11E1-8FCF-42A7-8BFB-957E253F69D5 Q47157369-5ECB11D1-49F9-4992-8E71-916303BD4719 Q47254698-9D458963-D828-442C-8066-9C4D1EC878D4 Q47605252-52449224-A751-41A3-8AD0-2B50E6BB23E3 Q47777780-C4DB7456-8EAF-459A-8C15-4C4F2CD1A021 Q48124777-49286FAE-6ACC-433D-8AAC-9288D62A7D54 Q50210067-A9F9AB9F-C396-4DC7-A040-4421CFD02AFB Q52715788-34300AF2-7797-43CC-A6A9-E2A52D6CE6CF Q54957880-F7A43446-5E07-4BE4-A19E-3C81B632D131 Q59312459-9F67E449-8A80-426C-87A7-FB8A06FE1F09

P2860

Functional assays for analysis of variants of uncertain significance in BRCA2.

http://www.wikidata.org/entity/Q37715826

description

article científic

@ca

article scientifique

@fr

articolo scientifico

@it

artigo científico

@pt

bilimsel makale

@tr

scientific article published on 03 December 2013

@en

vedecký článok

@sk

vetenskaplig artikel

@sv

videnskabelig artikel

@da

vědecký článek

@cs

name

Functional assays for analysis of variants of uncertain significance in BRCA2.

@en

Functional assays for analysis of variants of uncertain significance in BRCA2.

@nl

type

label

Functional assays for analysis of variants of uncertain significance in BRCA2.

@en

Functional assays for analysis of variants of uncertain significance in BRCA2.

@nl

prefLabel

Functional assays for analysis of variants of uncertain significance in BRCA2.

@en

Functional assays for analysis of variants of uncertain significance in BRCA2.

@nl

P1433

Q37715826-5B42CC7D-A29E-4CA3-94F4-0F2E469122C7

P1476

Q37715826-D8E40A98-EF0E-4547-B47B-FA03374619BF

P2093

Q37715826-0C1E1384-E152-4B65-ACEC-1C1D7EDFCC25

Q37715826-348AF3A5-9F14-4D9E-9B75-CE698B9BCACE

Q37715826-4CBF4DAA-C31E-4442-A689-D60AC6F96596

Q37715826-97FCEB7E-834D-4FFC-BB08-30017C85D4B6

Q37715826-A97A582B-4CF0-4C35-85F2-02C9395050BD

Q37715826-C47175BE-5E87-4430-BF1D-F49A76E532BA

P2860

Q37715826-02006F1D-36E9-4C19-8560-F43E3725402C

Q37715826-037F230A-07B9-4B4B-B5E6-495FAEC14515

Q37715826-08A4D3FE-25E3-4670-AA91-06DD234B336E

Q37715826-0BE177E6-F602-4539-A43E-880C298DA3D7

Q37715826-0E57AA01-C422-48E5-ACE0-1608570FAC44

Q37715826-19313C55-872A-4A6A-844E-C25887C2629D

Q37715826-1AF0FCBE-6A64-464D-BC3B-F92FDE4983D7

Q37715826-1E85328D-0105-40DA-A567-14C14FD15AD1

Q37715826-1F44647C-2D32-47AA-83B8-156CB79AF616

Q37715826-1F62AC35-E9FA-49C3-8E97-9F01B6C17E09

P304

Q37715826-40CE4E82-6500-4FDB-B161-8BAA701B8CD4

P31

Q37715826-7AB1A6FD-718A-4374-B834-91F5ECC7658C

P356

Q37715826-4180D6F8-E8D7-4B0A-AB3A-2DAED530546D

P433

Q37715826-38B7AF32-EB8E-4FA8-AAA2-AACE9C2EF918

P478

Q37715826-5D2CBDDE-8234-4ED2-AC80-88B8AF157055

P50

Q37715826-0F2070E2-7394-4864-9775-0A04F50984FF

Q37715826-100BAD34-0D52-4CC3-BBED-8B7437998150

Q37715826-2E18730C-B508-4992-8CE7-326EA0A5F8F9

Q37715826-71A875BC-4945-4FD5-9D6B-70D38E034F8A

Q37715826-EC3A0107-1104-40ED-AB8B-576BDBDA4F51

P577

Q37715826-1A195B1A-91F8-4959-BA5F-91D83CD465B0

P5875

Q37715826-76818E83-BA73-4E28-842A-35791E9D988F

P698

Q37715826-9D593FF2-9745-406D-88ED-922DCF02672B

P932

Q37715826-CA914E96-9E46-451B-B740-9064BF5D0C87

P356

P1433

P1476

Functional assays for analysis of variants of uncertain significance in BRCA2

@en

P2093

Asa Ehlen

http://www.w3.org/2001/XMLSchema#string

ENIGMA consortium

http://www.w3.org/2001/XMLSchema#string

Lucia Guidugli

http://www.w3.org/2001/XMLSchema#string

Maaike P G Vreeswijk

http://www.w3.org/2001/XMLSchema#string

Susan L Neuhausen

http://www.w3.org/2001/XMLSchema#string

Thomas V O Hansen

http://www.w3.org/2001/XMLSchema#string

P2860

Interaction between BRCA2 and replication protein A is compromised by a cancer-predisposing mutation in BRCA2

Interference with BRCA2, which localizes to the centrosome during S and early M phase, leads to abnormal nuclear division

Purified human BRCA2 stimulates RAD51-mediated recombination

APRIN is a cell cycle specific BRCA2-interacting protein required for genome integrity and a predictor of outcome after chemotherapy in breast cancer

Interaction with the BRCA2 C terminus protects RAD51-DNA filaments from disassembly by BRC repeats

Interactions between human BRCA2 protein and the meiosis-specific recombinase DMC1

The BRC repeats in BRCA2 are critical for RAD51 binding and resistance to methyl methanesulfonate treatment

Structural basis for recruitment of BRCA2 by PALB2

PALB2 is an integral component of the BRCA complex required for homologous recombination repair

Transcriptional activation functions in BRCA2

P304

151-164

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1002/HUMU.22478

http://www.w3.org/2001/XMLSchema#string

P433

2

http://www.w3.org/2001/XMLSchema#string

P478

35

http://www.w3.org/2001/XMLSchema#string

P50

Sandrine Caputo

Alvaro Monteiro

Fergus J. Couch

P577

2013-12-03T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P5875

260204265

http://www.w3.org/2001/XMLSchema#string

P698

24323938

http://www.w3.org/2001/XMLSchema#string

P932

3995136

http://www.w3.org/2001/XMLSchema#string