Analysis of 30 putative BRCA1 splicing mutations in hereditary breast and ovarian cancer families identifies exonic splice site mutations that escape in silico prediction.
about
Classification of the spliceogenic BRCA1 c.4096+3A>G variant as likely benign based on cosegregation data and identification of a healthy homozygous carrierThe contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population.Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathySplicing analysis of 14 BRCA1 missense variants classifies nine variants as pathogenicRAD51C deletion screening identifies a recurrent gross deletion in breast cancer and ovarian cancer families.Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants.Evaluation of Bioinformatic Programmes for the Analysis of Variants within Splice Site Consensus Regions.Nevoid basal cell carcinoma syndrome caused by splicing mutations in the PTCH1 gene.Analysis and annotation of whole-genome or whole-exome sequencing-derived variants for clinical diagnosis.Analysis and Annotation of Whole-Genome or Whole-Exome Sequencing Derived Variants for Clinical Diagnosis.Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2.Hereditary cancer genes are highly susceptible to splicing mutations.
P2860
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P2860
Analysis of 30 putative BRCA1 splicing mutations in hereditary breast and ovarian cancer families identifies exonic splice site mutations that escape in silico prediction.
description
2012 nî lūn-bûn
@nan
2012 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Analysis of 30 putative BRCA1 ...... t escape in silico prediction.
@ast
Analysis of 30 putative BRCA1 ...... t escape in silico prediction.
@en
type
label
Analysis of 30 putative BRCA1 ...... t escape in silico prediction.
@ast
Analysis of 30 putative BRCA1 ...... t escape in silico prediction.
@en
prefLabel
Analysis of 30 putative BRCA1 ...... t escape in silico prediction.
@ast
Analysis of 30 putative BRCA1 ...... t escape in silico prediction.
@en
P2093
P2860
P50
P1433
P1476
Analysis of 30 putative BRCA1 ...... t escape in silico prediction.
@en
P2093
Alexandra A Becker
Eric Hahnen
Juliane Köhler
Karin Kast
Kerstin Rhiem
Stefanie Engert
P2860
P304
P356
10.1371/JOURNAL.PONE.0050800
P407
P577
2012-12-11T00:00:00Z