Patterns and functional implications of rare germline variants across 12 cancer types - Wikidata - wikimedia - TriplyDB

Patterns and functional implications of rare germline variants across 12 cancer types

Patterns and functional implications of rare germline variants across 12 cancer types

http://www.wikidata.org/entity/Q36437964

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Beyond DNA: An Integrated and Functional Approach for Classifying Germline Variants in Breast Cancer Genes Endometrial cancer gene panels: clinical diagnostic vs research germline DNA testing.The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.Clinical analysis and prognosis of synchronous and metachronous multiple primary malignant tumors Functional and mutational landscapes of BRCA1 for homology-directed repair and therapy resistance A knowledge-based framework for the discovery of cancer-predisposing variants using large-scale sequencing breast cancer data Pan-cancer analysis reveals technical artifacts in TCGA germline variant calls Codon-level co-occurrences of germline variants and somatic mutations in cancer are rare but often lead to incorrect variant annotation and underestimated impact prediction.Divergent viral presentation among human tumors and adjacent normal tissues.Leveraging premalignant biology for immune-based cancer prevention.Concordance between somatic copy number loss and down-regulated expression: A pan-cancer study of cancer predisposition genes.Association of genetic polymorphisms with laryngeal carcinoma prognosis in a Chinese population.Risk of subsequent primary malignancies among patients with prior colorectal cancer: a population-based cohort study.Exceptional durable response to everolimus in a patient with biphenotypic breast cancer harboring an STK11 variant.Interaction Landscape of Inherited Polymorphisms with Somatic Events in Cancer.The Role of PALB2 in the DNA Damage Response and Cancer Predisposition.Germline Mutations in PALB2, BRCA1, and RAD51C, Which Regulate DNA Recombination Repair, in Patients With Gastric Cancer.Whole-exome sequencing and targeted gene sequencing provide insights into the role of PALB2 as a male breast cancer susceptibility gene.Frequency of germline PALB2 mutations among women with epithelial ovarian cancer.Pan-cancer analysis of bi-allelic alterations in homologous recombination DNA repair genes.Germline and somatic BAP1 mutations in high-grade rhabdoid meningiomas.Identification of potentially oncogenic alterations from tumor-only samples reveals Fanconi anemia pathway mutations in bladder carcinomas.An improved burden-test pipeline for identifying associations from rare germline and somatic variants.Targeted Gene Sequencing of Gallbladder Carcinoma Identifies High-impact Somatic and Rare Germline Mutations.Genetic variation in human drug-related genes.Exome-Wide Association Study of Pancreatic Cancer Risk.Rare germline variants in known melanoma susceptibility genes in familial melanoma.Precision oncology in the age of integrative genomics.Genomic insights into head and neck cancer.Pathogenic Germline Variants in 10,389 Adult Cancers.Perspective on Oncogenic Processes at the End of the Beginning of Cancer Genomics.Germline pathogenic variants in PALB2 and other cancer-predisposing genes in families with hereditary diffuse gastric cancer without CDH1 mutation: a whole-exome sequencing study.70ProPred: a predictor for discovering sigma70 promoters based on combining multiple features.The impact of pharmacokinetic gene profiles across human cancers.Rare variants in Fanconi anemia genes are enriched in acute myeloid leukemia.Systematic discovery of germline cancer predisposition genes through the identification of somatic second hits.Identifying Heterogeneity Patterns of Allelic Imbalance on Germline Variants to Infer Clonal Architecture Exome-wide analysis of bi-allelic alterations identifies a Lynch phenotype in The Cancer Genome Atlas Synstable Fusion: A Network-Based Algorithm for Estimating Driver Genes in Fusion Structures Comprehensive Analysis of Germline Variants in Mexican Patients with Hereditary Breast and Ovarian Cancer Susceptibility

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Patterns and functional implications of rare germline variants across 12 cancer types

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2015年學術文章

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2015年學術文章

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2015年學術文章

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Patterns and functional implications of rare germline variants across 12 cancer types

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Patterns and functional implications of rare germline variants across 12 cancer types

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Patterns and functional implications of rare germline variants across 12 cancer types

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Patterns and functional implications of rare germline variants across 12 cancer types

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Patterns and functional implications of rare germline variants across 12 cancer types

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Patterns and functional implications of rare germline variants across 12 cancer types

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Nature Communications

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Patterns and functional implications of rare germline variants across 12 cancer types

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Beifang Niu

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Benjamin J Raphael

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Charles Lu

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Cyriac Kandoth

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Daniel C Koboldt

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Elaine R Mardis

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Feng Chen

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Heather K Schmidt

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James M Eldred

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Jeffrey D Parvin

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Cancer genome landscapes

PALB2 is an integral component of the BRCA complex required for homologous recombination repair

BAP1: a novel ubiquitin hydrolase which binds to the BRCA1 RING finger and enhances BRCA1-mediated cell growth suppression

Mutation and cancer: statistical study of retinoblastoma

VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing

Comprehensive molecular portraits of human breast tumours

Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

Repeated observation of breast tumor subtypes in independent gene expression data sets

Environmental and heritable factors in the causation of cancer--analyses of cohorts of twins from Sweden, Denmark, and Finland

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10.1038/NCOMMS10086

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6

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Christopher A. Miller

Matthew A Wyczalkowski

Bradley A Ozenberger

Reyka G Jayasinghe

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2015-12-22T00:00:00Z

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