Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing
about
Linkage analysis in the next-generation sequencing eraComprehensive molecular portraits of human breast tumoursMutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencingSequencing technologies and genome sequencingNew challenges for BRCA testing: a view from the diagnostic laboratoryRethinking ovarian cancer II: reducing mortality from high-grade serous ovarian cancerA guide for functional analysis of BRCA1 variants of uncertain significanceGermline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomasPioneering geneticist Mary-Claire King receives the 2014 Lasker~Koshland Special Achievement Award in Medical ScienceRare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening studyMutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvementRecommendations for the implementation of BRCA testing in the care and treatment pathways of ovarian cancer patients.Inherited Mutations in Women With Ovarian CarcinomaSingle-step capture and sequencing of natural DNA for detection of BRCA1 mutationsInferring copy number and genotype in tumour exome data.Phase I/Ib study of olaparib and carboplatin in women with triple negative breast cancer.Germline alterations in RASAL1 in Cowden syndrome patients presenting with follicular thyroid cancer and in individuals with apparently sporadic epithelial thyroid cancerGenetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients.Multi-gene panel testing for hereditary cancer predisposition in unsolved high-risk breast and ovarian cancer patientsGenetic analysis through OtoSeq of Pakistani families segregating prelingual hearing lossInhibition of the transition of ductal carcinoma in situ to invasive ductal carcinoma by a Gemini vitamin D analog.Targeted massively parallel sequencing provides comprehensive genetic diagnosis for patients with disorders of sex developmentA knowledge-based framework for the discovery of cancer-predisposing variants using large-scale sequencing breast cancer dataLarge numbers of individuals are required to classify and define risk for rare variants in known cancer risk genesClinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessmentCopy number variants are a common cause of non-syndromic hearing lossContribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer.Genetic variants associated with breast cancer risk for Ashkenazi Jewish women with strong family histories but no identifiable BRCA1/2 mutationAccurate and exact CNV identification from targeted high-throughput sequence data.Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern familiesPanel-based testing for inherited colorectal cancer: a descriptive study of clinical testing performed by a US laboratory.Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome.Translating personalized medicine using new genetic technologies in clinical practice: the ethical issuesCONTRA: copy number analysis for targeted resequencing.Next-generation sequencing for cancer diagnostics: a practical perspective.Next generation sequencing for molecular diagnosis of neuromuscular diseases.Complex MSH2 and MSH6 mutations in hypermutated microsatellite unstable advanced prostate cancerSolution-based targeted genomic enrichment for precious DNA samples.Gene discovery in familial cancer syndromes by exome sequencing: prospects for the elucidation of familial colorectal cancer type X.Population-based screening for breast and ovarian cancer risk due to BRCA1 and BRCA2.
P2860
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P2860
Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing
description
2010 nî lūn-bûn
@nan
2010 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Detection of inherited mutatio ...... massively parallel sequencing
@ast
Detection of inherited mutatio ...... massively parallel sequencing
@en
Detection of inherited mutatio ...... massively parallel sequencing
@nl
type
label
Detection of inherited mutatio ...... massively parallel sequencing
@ast
Detection of inherited mutatio ...... massively parallel sequencing
@en
Detection of inherited mutatio ...... massively parallel sequencing
@nl
prefLabel
Detection of inherited mutatio ...... massively parallel sequencing
@ast
Detection of inherited mutatio ...... massively parallel sequencing
@en
Detection of inherited mutatio ...... massively parallel sequencing
@nl
P2093
P2860
P50
P3181
P356
P1476
Detection of inherited mutatio ...... massively parallel sequencing
@en
P2093
Anne M Thornton
Christopher Pennil
Elizabeth M Swisher
Jessica B Mandell
Ming K Lee
Silvia Casadei
Sunday M Stray
P2860
P304
P3181
P356
10.1073/PNAS.1007983107
P407
P577
2010-07-13T00:00:00Z