Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing - Test2 - elhamkhani - TriplyDB

Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing

Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing

http://www.wikidata.org/entity/Q24606803

about

Linkage analysis in the next-generation sequencing era Comprehensive molecular portraits of human breast tumours Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing Sequencing technologies and genome sequencing New challenges for BRCA testing: a view from the diagnostic laboratory Rethinking ovarian cancer II: reducing mortality from high-grade serous ovarian cancer A guide for functional analysis of BRCA1 variants of uncertain significance Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas Pioneering geneticist Mary-Claire King receives the 2014 Lasker~Koshland Special Achievement Award in Medical Science Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening study Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement Recommendations for the implementation of BRCA testing in the care and treatment pathways of ovarian cancer patients.Inherited Mutations in Women With Ovarian Carcinoma Single-step capture and sequencing of natural DNA for detection of BRCA1 mutations Inferring 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 cancer Genetic 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 patients Genetic analysis through OtoSeq of Pakistani families segregating prelingual hearing loss Inhibition 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 development A knowledge-based framework for the discovery of cancer-predisposing variants using large-scale sequencing breast cancer data Large numbers of individuals are required to classify and define risk for rare variants in known cancer risk genes Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment Copy number variants are a common cause of non-syndromic hearing loss Contribution 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 mutation Accurate 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 families Panel-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 issues CONTRA: 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 cancer Solution-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.

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P2860

Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing

http://www.wikidata.org/entity/Q24606803

description

2010 nî lūn-bûn

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2010 թուականի Յուլիսին հրատարակուած գիտական յօդուած

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2010 թվականի հուլիսին հրատարակված գիտական հոդված

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2010年の論文

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2010年論文

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2010年論文

@zh-hant

2010年論文

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2010年論文

@zh-mo

2010年論文

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2010年论文

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name

Detection of inherited mutatio ...... massively parallel sequencing

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Detection of inherited mutatio ...... massively parallel sequencing

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Detection of inherited mutatio ...... massively parallel sequencing

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type

label

Detection of inherited mutatio ...... massively parallel sequencing

@ast

Detection of inherited mutatio ...... massively parallel sequencing

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Detection of inherited mutatio ...... massively parallel sequencing

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prefLabel

Detection of inherited mutatio ...... massively parallel sequencing

@ast

Detection of inherited mutatio ...... massively parallel sequencing

@en

Detection of inherited mutatio ...... massively parallel sequencing

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PNAS.1007983107

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Proceedings of the National Academy of Sciences of the United States of America

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Detection of inherited mutatio ...... massively parallel sequencing

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P2093

Anne M Thornton

http://www.w3.org/2001/XMLSchema#string

Christopher Pennil

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Elizabeth M Swisher

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Jessica B Mandell

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Ming K Lee

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Silvia Casadei

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Sunday M Stray

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P2860

Enrichment of sequencing targets from the human genome by solution hybridization

PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene

Mapping short DNA sequencing reads and calling variants using mapping quality scores

Model-based analysis of oligonucleotide arrays: model validation, design issues and standard error application

Targeting the DNA repair defect in BRCA mutant cells as a therapeutic strategy

Specific killing of BRCA2-deficient tumours with inhibitors of poly(ADP-ribose) polymerase

Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2

A standardized framework for the validation and verification of clinical molecular genetic tests

Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database

Microarray-based multicycle-enrichment of genomic subsets for targeted next-generation sequencing.

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12629-33

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Mary-Claire King

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