Assessment of functional effects of unclassified genetic variants.
about
Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening studyAssessment of human Nter and Cter BRCA1 mutations using growth and localization assays in yeast.Classification of missense substitutions in the BRCA genes: a database dedicated to Ex-UVs.Genetic evidence and integration of various data sources for classifying uncertain variants into a single model.Association of common variants in mismatch repair genes and breast cancer susceptibility: a multigene study.Prediction and assessment of splicing alterations: implications for clinical testing.Genotype to phenotype: analyzing the effects of inherited mutations in colorectal cancer families.Identification of breast tumor mutations in BRCA1 that abolish its function in homologous DNA recombination.Predictive models for mutations in mismatch repair genes: implication for genetic counseling in developing countriesTumor characteristics as an analytic tool for classifying genetic variants of uncertain clinical significance.Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicitySequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results.Characterization of BRCA1 ring finger variants of uncertain significanceApplication of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.In silico functional profiling of human disease-associated and polymorphic amino acid substitutions.Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary.Identifying the effects of BRCA1 mutations on homologous recombination using cells that express endogenous wild-type BRCA1.Anticipation in lynch syndrome: where we are where we goDescription and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases.Functional Assessment of Genetic Variants with Outcomes Adapted to Clinical Decision-MakingFunctional evaluation of BRCA2 variants mapping to the PALB2-binding and C-terminal DNA-binding domains using a mouse ES cell-based assay.Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes.A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activityA multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry.The Clinical Significance of Unknown Sequence Variants in BRCA Genes.Multimodal assessment of protein functional deficiency supports pathogenicity of BRCA1 p.V1688del.Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancerNovel Implications in Molecular Diagnosis of Lynch Syndrome.Pathological assessment of mismatch repair gene variants in Lynch syndrome: past, present, and future.BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer.CDKN2A unclassified variants in familial malignant melanoma: combining functional and computational approaches for their assessment.MUTYH gene expression and alternative splicing in controls and polyposis patients.Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants.Classifying variants of CDKN2A using computational and laboratory studies.Determining the functional significance of mismatch repair gene missense variants using biochemical and cellular assays.Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants.Assessing pathogenicity: overview of results from the IARC Unclassified Genetic Variants Working Group.Functional characterization of MLH1 missense variants identified in Lynch syndrome patients.Breast cancer in young women (YBC): prevalence of BRCA1/2 mutations and risk of secondary malignancies across diverse racial groups.
P2860
Q28743906-B47E44CE-77CA-4CBF-8856-FACFB3E672EEQ30407141-6D7A78BC-9E40-4AAB-8CC2-B1765889DBBAQ30485153-5ACD5DC8-07AD-45AB-BF27-D531336903F2Q33379396-17548F8B-1B96-49E8-8872-5B61DC320F54Q33506772-528756BC-AA9C-452F-8AE2-D5845D36BD29Q33704900-11F1DB24-ED72-4EBC-9777-7351E059A78DQ33939068-D8B59AED-3D2C-4756-A956-1E6F008003A1Q34146943-65E5F628-B75B-4423-801A-0E8402B4C687Q34155518-8EE08E49-85E2-40D8-A135-D094016ED234Q34252077-DB587F77-723C-43C7-8A66-C438C0832623Q34495985-FF0AD60A-B644-41F6-BF7E-A7E5B82CC055Q34788325-C7F6E6EF-7DFC-40BC-9F67-8E0E7A77E69CQ34820474-8DE6C3A1-AEDC-4781-99C6-034ECA0FD7C1Q34961153-A162B51F-6517-4CC4-A033-B2CC9D38739EQ34995109-E8A50A2A-47B5-4FE0-BE79-D604A55844E5Q35053897-AF4BC5DE-D0F0-49B8-AC31-48F59923A1E2Q35121513-47C9F23F-7D39-46B1-A715-6FC28D30DF46Q35396232-DB8D6A92-5FB0-4AEA-8231-4BCA6D8F61CDQ35560811-CCF6A371-1E11-4EAD-B234-C2E32ADB5905Q35630889-B9069ED9-15B3-4DEA-8483-A97C58759AFDQ36044085-2EAA352D-8490-4056-A02F-8B7721A967F3Q36190966-E3D3AC3C-77B7-4768-BF4C-C49B8F241A1BQ36247119-7393AB52-0558-4B02-A686-4E949A3832F0Q36511037-7DFD1189-486B-430B-8640-857DA77C5A5BQ36512734-5520C63B-B056-4409-BC9E-9B0BD61D35A5Q37334266-D1E2D7BE-2BFE-49B2-8F21-81F1C53AE718Q37356517-896276BD-9F34-4D38-AD65-4543EA462EF9Q37373918-AD3B055F-6FC1-457A-86CC-0F5378D538A0Q37637302-FABD5278-BB6E-4B54-8DA8-FF6A1B804490Q38029584-E1157184-FD36-47E8-8535-0ADD4BE8C46EQ38914005-669CFFA0-0DA3-4241-B38F-BE7D8134275FQ39012719-00A561C9-61B6-4FC2-9BAB-43A623BF2140Q39369716-9B1C66A3-0A05-416E-9D33-B62FFD0F2141Q39389539-601856CF-3002-4C95-BF9C-FBB9084721B0Q39564985-8E5E1701-46E5-4FE9-93B7-86E63ACC9BCEQ39581441-97478678-C3AB-4976-9692-9740114A4126Q42287839-CBF1D6FF-4D94-47ED-9098-C55956A79F59Q42394236-926E5BC7-25C2-4C7F-B022-F32FF55FC79EQ42833087-04BC52EF-E807-4126-8832-292625C41B64Q43980686-A5BC0061-19E3-4C35-B533-AFF97C88E42A
P2860
Assessment of functional effects of unclassified genetic variants.
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
2008年學術文章
@zh
2008年學術文章
@zh-hant
name
Assessment of functional effects of unclassified genetic variants.
@en
Assessment of functional effects of unclassified genetic variants.
@nl
type
label
Assessment of functional effects of unclassified genetic variants.
@en
Assessment of functional effects of unclassified genetic variants.
@nl
prefLabel
Assessment of functional effects of unclassified genetic variants.
@en
Assessment of functional effects of unclassified genetic variants.
@nl
P2093
P2860
P50
P356
P1433
P1476
Assessment of functional effects of unclassified genetic variants.
@en
P2093
IARC Unclassified Genetic Variants Working Group
Marc S Greenblatt
Niels de Wind
P2860
P304
P356
10.1002/HUMU.20899
P577
2008-11-01T00:00:00Z