A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity - Wikidata - wikimedia - TriplyDB

A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity

A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity

http://www.wikidata.org/entity/Q36511037

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PALB2: research reaching to clinical outcomes for women with breast cancer Beyond DNA: An Integrated and Functional Approach for Classifying Germline Variants in Breast Cancer Genes Molding BRCA2 function through its interacting partners Clinical and molecular characterization of the BRCA2 p.Asn3124Ile variant reveals substantial evidence for pathogenic significance.Functional and mutational landscapes of BRCA1 for homology-directed repair and therapy resistance Two decades after BRCA: setting paradigms in personalized cancer care and prevention Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer.Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.A targeted analysis identifies a high frequency of BRCA1 and BRCA2 mutation carriers in women with ovarian cancer from a founder population.Germline TP53 mutational spectrum in French Canadians with breast cancer.Double PALB2 and BRCA1/BRCA2 mutation carriers are rare in breast cancer and breast-ovarian cancer syndrome families from the French Canadian founder population Towards Increasing the Clinical Relevance of In Silico Methods to Predict Pathogenic Missense Variants Functional Assessment of Genetic Variants with Outcomes Adapted to Clinical Decision-Making Characterization of BRCA1 and BRCA2 variants in multi-ethnic Asian cohort from a Malaysian case-control study Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18.Recurrent mutations of BRCA1, BRCA2 and PALB2 in the population of breast and ovarian cancer patients in Southern Poland BRCA1/2 sequence variants of uncertain significance: a primer for providers to assist in discussions and in medical management.BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers Targeted sequencing of BRCA1 and BRCA2 across a large unselected breast cancer cohort suggests that one-third of mutations are somatic BRCA1 and BRCA2 genetic testing-pitfalls and recommendations for managing variants of uncertain clinical significance.Genomic Biomarkers for Breast Cancer Risk.Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation.Functional assays for analysis of variants of uncertain significance in BRCA2.Analysis of chromosomal radiosensitivity of healthy BRCA2 mutation carriers and non-carriers in BRCA families with the G2 micronucleus assay BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer.Hereditary breast and ovarian cancer: new genes in confined pathways.Association of the germline BRCA2 missense variation Glu2663Lys with high sensitivity to trabectedin-based treatment in soft tissue sarcoma.Characterization of BRCA1 and BRCA2 variants found in a Norwegian breast or ovarian cancer cohort.BRCA1 and BRCA2 germline variants in breast cancer patients from the Republic of Macedonia.Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches.Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes.Capillary electrophoresis analysis of conventional splicing assays: IARC analytical and clinical classification of 31 BRCA2 genetic variants.Performance of in silico prediction tools for the classification of rare BRCA1/2 missense variants in clinical diagnostics.

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A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity

http://www.wikidata.org/entity/Q36511037

description

2012 nî lūn-bûn

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2012年の論文

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2012年論文

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2012年論文

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2012年論文

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2012年論文

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2012年論文

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2012年论文

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2012年论文

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2012年论文

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name

A classification model for BRC ...... ology-directed repair activity

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A classification model for BRC ...... ology-directed repair activity

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A classification model for BRC ...... ology-directed repair activity

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A classification model for BRC ...... ology-directed repair activity

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A classification model for BRC ...... ology-directed repair activity

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A classification model for BRC ...... ology-directed repair activity

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0008-5472.CAN-12-2081

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Cancer Research

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A classification model for BRC ...... ology-directed repair activity

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Catherine A Erding

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Christian Singer

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David E Goldgar

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James Thompson

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Lucia Guidugli

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Namit Singh

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Noralane M Lindor

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Patricia N Tonin

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Vernon S Pankratz

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P2860

Purified human BRCA2 stimulates RAD51-mediated recombination

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

BRCA2 is required for homology-directed repair of chromosomal breaks

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

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

Functional assays for classification of BRCA2 variants of uncertain significance.

Brca2 (XRCC11) deficiency results in radioresistant DNA synthesis and a higher frequency of spontaneous deletions

Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity

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

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

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10.1158/0008-5472.CAN-12-2081

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1

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73

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Rita Schmutzler

Katherine L Nathanson

Christoph Engel

Susan M Domchek

Fergus J. Couch

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2012-10-29T00:00:00Z

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23108138

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3537884

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