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

Assessment of pathogenic variation in gynecologic cancer genes in a national cohort.

Scientific reports - 31 Mar 2023

Kotnik Urška, Maver Aleš, Peterlin Borut, Lovrecic Luca

Abstract excerpt

Population-based estimates of pathogenic variation burden in gynecologic cancer predisposition genes are a prerequisite for the development of effective precision public health strategies. This study aims to reveal the burden of pathogenic variants in a comprehensive set of clinically relevant breast, ovarian, and endometrial cancer genes in a large population-based study. We performed a rigorous manual...

Read the complete abstract on PubMed

Topics

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

Share to Breast Neoplasms
Share to Genes, BRCA1
Share to Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genital Neoplasms, Female

Share to Germ-Line Mutation

Share to Hereditary Breast and Ovarian Cancer Syndrome

Share to Oncogenes

Share to Ovarian Neoplasms

Source

Open in PubMed Open full text

Identifiers

PMID: 37002323
DOI: 10.1038/s41598-023-32397-8
PMCID: PMC10066348

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Assessment of pathogenic variation in gynecologic cancer genes in a national cohort.PMID 37002323Read ↗

Germline variant spectrum of hereditary cancer susceptibility genes in a Chinese cohort.Semantic proximity Read ↗

Spectrum and Prevalence of Pathogenic Variants in Ovarian Cancer Susceptibility Genes in a Group of 333 PatientsSemantic proximity Read ↗

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

Contribution of germline mutations in cancer predisposition genes to tumor etiology in young women diagnosed with invasive breast cancer.Semantic proximity Read ↗

A Population-Based Study of Genes Previously Implicated in Breast Cancer.Semantic proximity Read ↗

Germline pathogenic variant spectrum in 25 cancer susceptibility genes in Turkish breast and colorectal cancer patients and elderly controlsSemantic proximity Read ↗

Variant reclassification in cancer susceptibility genes and an updated variant spectrum of Turkish breast and colorectal cancer patients.Semantic proximity Read ↗

<i>Identification and Characterization of Rare Pathogenic</i> Gene <i>tic Variants Associated with Breast Cancer Susceptibility in 1000 Genome and gnomAD Population</i>Semantic proximity Read ↗

Impact of non-BRCA genes in the indication of risk-reducing surgery in hereditary breast and ovarian cancer syndrome (HBOC).Semantic proximity Read ↗

Identification of hereditary breast and ovarian cancer germline variants in Granada (Spain): NGS perspective.Semantic proximity Read ↗

Association of Pathogenic Variants in Hereditary Cancer Genes With Multiple Diseases.Semantic proximity Read ↗

Evaluation of pathogenetic mutations in breast cancer predisposition genes in population-based studies conducted among Chinese women.Semantic proximity Read ↗

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