A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example.
about
The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experienceLarge numbers of individuals are required to classify and define risk for rare variants in known cancer risk genesP.Arg82Leu von Hippel-Lindau (VHL) gene mutation among three members of a family with familial bilateral pheochromocytoma in India: molecular analysis and in silico characterization.New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencingA review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).Novel germline mutations and unclassified variants of BRCA1 and BRCA2 genes in Chinese women with familial breast/ovarian cancerFunctional 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.BRCA1/2 sequence variants of uncertain significance: a primer for providers to assist in discussions and in medical management.BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk.Family Studies for Classification of Variants of Uncertain Classification: Current Laboratory Clinical Practice and a New Web-Based Educational Tool.The impact of next generation sequencing on the analysis of breast cancer susceptibility: a role for extremely rare genetic variation?A SImplified method for Segregation Analysis (SISA) to determine penetrance and expression of a genetic variant in a family.A comparison of cosegregation analysis methods for the clinical setting.Classification and Clinical Management of Variants of Uncertain Significance in High Penetrance Cancer Predisposition Genes.Power of pedigree likelihood analysis in extended pedigrees to classify rare variants of uncertain significance in cancer risk genes.Family-Specific Variants and the Limits of Human Genetics.The BRCA1 S1715N mutation segregates with breast and ovarian cancer in an extended family pedigree.Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members.The BRCA2 variant c.68-7 T>A is associated with breast cancer.A BRCA2 mutation incorrectly mapped in the original BRCA2 reference sequence, is a common West Danish founder mutation disrupting mRNA splicing.Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes.Power in the phenotypic extremes: a simulation study of power in discovery and replication of rare variantsDealing With BRCA1/2 Unclassified Variants in a Cancer Genetics Clinic: Does Cosegregation Analysis Help?
P2860
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P2860
A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example.
description
2009 nî lūn-bûn
@nan
2009 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
A simple method for co-segrega ...... BRCA1 and BRCA2 as an example.
@ast
A simple method for co-segrega ...... BRCA1 and BRCA2 as an example.
@en
type
label
A simple method for co-segrega ...... BRCA1 and BRCA2 as an example.
@ast
A simple method for co-segrega ...... BRCA1 and BRCA2 as an example.
@en
prefLabel
A simple method for co-segrega ...... BRCA1 and BRCA2 as an example.
@ast
A simple method for co-segrega ...... BRCA1 and BRCA2 as an example.
@en
P2093
P2860
P50
P356
P1433
P1476
A simple method for co-segrega ...... BRCA1 and BRCA2 as an example.
@en
P2093
Annemarie H van der Hout
Ans van den Ouweland
Charlotte J Dommering
Encarna Gómez García
Frans B Hogervorst
Hans C van Houwelingen
Jan C Oosterwijk
Johan J Gille
Juul T Wijnen
Leila Mohammadi
P2860
P2888
P356
10.1186/1471-2407-9-211
P407
P577
2009-06-29T00:00:00Z
P5875
P6179
1028253433