Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles.
about
Exome sequencing and functional analysis identifies a novel mutation in EXT1 gene that causes multiple osteochondromasDisruption of SUMO-targeted ubiquitin ligases Slx5-Slx8/RNF4 alters RecQ-like helicase Sgs1/BLM localization in yeast and human cells.Rare mutations in RINT1 predispose carriers to breast and Lynch syndrome-spectrum cancersHereditary breast cancer: ever more pieces to the polygenic puzzle.Genomic characterization of the inherited bone marrow failure syndromes.Exome-wide association study of endometrial cancer in a multiethnic populationIntegrated analysis of germline and somatic variants in ovarian cancer.Case-control analysis of truncating mutations in DNA damage response genes connects TEX15 and FANCD2 with hereditary breast cancer susceptibility.Whole exome sequencing reveals concomitant mutations of multiple FA genes in individual Fanconi anemia patients.Family-specific, novel, deleterious germline variants provide a rich resource to identify genetic predispositions for BRCAx familial breast cancer.Improved variant calling accuracy by merging replicates in whole-exome sequencing studiesMutational landscape of candidate genes in familial prostate cancerThe role of post-translational modifications in fine-tuning BLM helicase function during DNA repairThe promise of whole-exome sequencing in medical genetics.Heterozygous mutations in DNA repair genes and hereditary breast cancer: a question of power.Next-Generation Sequencing in Oncology: Genetic Diagnosis, Risk Prediction and Cancer Classification.Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles.Growing recognition of the role for rare missense substitutions in breast cancer susceptibilityBioinformatics pipelines for targeted resequencing and whole-exome sequencing of human and mouse genomes: a virtual appliance approach for instant deployment.Identification of a comprehensive spectrum of genetic factors for hereditary breast cancer in a Chinese population by next-generation sequencing.Mutations in RECQL Gene Are Associated with Predisposition to Breast CancerPrevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer.Effect of Next-Generation Exome Sequencing Depth for Discovery of Diagnostic Variants.Case-only exome sequencing and complex disease susceptibility gene discovery: study design considerations.Mutational landscape of mucinous ovarian carcinoma and its neoplastic precursors.FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factorExome sequencing reveals frequent deleterious germline variants in cancer susceptibility genes in women with invasive breast cancer undergoing neoadjuvant chemotherapyDeleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer.Progress of cancer genomics.Targeted Sequencing of the Mitochondrial Genome of Women at High Risk of Breast Cancer without Detectable Mutations in BRCA1/2Gene-panel sequencing and the prediction of breast-cancer risk.The effects of soy supplementation on gene expression in breast cancer: a randomized placebo-controlled study.RECQL: a new breast cancer susceptibility gene.Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast CancerCOMPLEXO: identifying the missing heritability of breast cancer via next generation collaborationBloom's Syndrome: Clinical Spectrum, Molecular Pathogenesis, and Cancer Predisposition.A large-scale assessment of two-way SNP interactions in breast cancer susceptibility using 46,450 cases and 42,461 controls from the breast cancer association consortium.Increased genomic burden of germline copy number variants is associated with early onset breast cancer: Australian breast cancer family registry.End-joining, translocations and cancer.The impact of next generation sequencing on the analysis of breast cancer susceptibility: a role for extremely rare genetic variation?
P2860
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P2860
Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles.
description
2012 nî lūn-bûn
@nan
2012 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի սեպտեմբերին 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
Exome sequencing identifies ra ...... cancer susceptibility alleles.
@ast
Exome sequencing identifies ra ...... cancer susceptibility alleles.
@en
Exome sequencing identifies ra ...... cancer susceptibility alleles.
@nl
type
label
Exome sequencing identifies ra ...... cancer susceptibility alleles.
@ast
Exome sequencing identifies ra ...... cancer susceptibility alleles.
@en
Exome sequencing identifies ra ...... cancer susceptibility alleles.
@nl
prefLabel
Exome sequencing identifies ra ...... cancer susceptibility alleles.
@ast
Exome sequencing identifies ra ...... cancer susceptibility alleles.
@en
Exome sequencing identifies ra ...... cancer susceptibility alleles.
@nl
P2093
P2860
P1433
P1476
Exome sequencing identifies ra ...... cancer susceptibility alleles.
@en
P2093
Alison H Trainer
Daniel R Barnes
David Y H Choong
Ella R Thompson
Gayle K Philip
Georgina L Ryland
Gillian Mitchell
Heather Thorne
Maria A Doyle
P2860
P304
P356
10.1371/JOURNAL.PGEN.1002894
P577
2012-09-27T00:00:00Z