Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Integrated analysis of germline and somatic variants in ovarian cancer

22 Jan 2014

Abstract excerpt

We report the first large-scale exome-wide analysis of the combined germline–somatic landscape in ovarian cancer. Here we analyse germline and somatic alterations in 429 ovarian carcinoma cases and 557 controls. We identify 3,635 high confidence, rare truncation and 22,953 missense variants with predicted functional impact. We find germline truncation variants and large deletions across Fanconi pathway genes in...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to BRCA gene mutations in cancer
Share to Cancer Genomics and Diagnostics
Share to Ovarian cancer diagnosis and treatment

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 24448499
DOI: 10.1038/ncomms4156

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Integrated analysis of germline and somatic variants in ovarian cancerPMID 24448499Read ↗

Patterns and functional implications of rare germline variants across 12 cancer types.Semantic proximity Read ↗

Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing.Semantic proximity Read ↗

Reanalysis of BRCA1/2 negative high risk ovarian cancer patients reveals novel germline risk loci and insights into missing heritability.Semantic proximity Read ↗

Risk of ovarian cancer in women with a pathogenic or likely pathogenic variant in NBN: a systematic review and meta-analysis.Semantic proximity Read ↗

Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing.Semantic proximity Read ↗

Exploring the somatic mutational landscape of ovarian cancer in Estonia.Semantic proximity Read ↗

Systematic discovery of germline cancer predisposition genes through the identification of somatic second hits.Semantic proximity Read ↗

Genomic analyses of germline and somatic variation in high-grade serous ovarian cancerSemantic proximity Read ↗

Next Generation Sequencing and Molecular Biomarkers in Ovarian Cancer—An Opportunity for Targeted TherapySemantic proximity Read ↗

Landscape of somatic mutated genes and inherited susceptibility genes in gynecological cancer.Semantic proximity Read ↗

Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencingSemantic proximity Read ↗

Prevalence and Landscape of Pathogenic or Likely Pathogenic Germline Variants and Their Association With Somatic Phenotype in Unselected Chinese Patients With Gynecologic Cancers.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.