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

Rapid screening test of most frequent BRCA1/BRCA2 pathogenic variants in the NGS era.

Neoplasma - 1 Jan 2000

Zidekova D, Waczulikova I, Dolesova L, Vavrova L, Hamidova O, Lohajova Behulova R, Konecny M

Abstract excerpt

The average risk of breast cancer in general Slovak population of women is 4-5% and the risk of ovarian cancer is 2%. Probability of breast/ovarian cancer development is higher in individuals carrying a causative germline DNA variant in BRCA1 or BRCA2 gene responsible for hereditary breast/ovarian cancer (HBOC). Although a major proportion of inherited breast/ovarian cancers are due to the mentioned causal...

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 Exons
Share to Genes, BRCA1

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, BRCA2

Share to Genetic Testing

Share to Germ-Line Mutation

Share to Ovarian Neoplasms

Share to Slovakia

Source

Identifiers

PMID: 29534594
DOI: 10.4149/neo_2018_170507N328

Genes

BRCA1
BRCA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Rapid screening test of most frequent BRCA1/BRCA2 pathogenic variants in the NGS era.PMID 29534594Read ↗

The spectrum and incidence of BRCA1 pathogenic mutations in Slovak breast/ovarian cancer families.Semantic proximity Read ↗

Comprehensive genetic characterization of hereditary breast/ovarian cancer families from Slovakia.Semantic proximity Read ↗

Clinical Features of Germline Variations in Breast Cancer Patients Revealed by BRCA1 and BRCA2 Genes Using Next Generation SequencingSemantic proximity Read ↗

Genetic screening results of individuals with high risk BRCA-related breast/ovarian cancer in Trakya region of Turkey.Semantic proximity Read ↗

Validation of an NGS Approach for Diagnostic BRCA1/BRCA2 Mutation Testing.Semantic proximity Read ↗

Multiplex SNaPshot for detection of BRCA1/2 common mutations in Spanish and Spanish related breast/ovarian cancer families.Semantic proximity Read ↗

A new rapid methodological strategy to assess BRCA mutational status.Semantic proximity Read ↗

The occurrence of germline BRCA1 and BRCA2 sequence alterations in Slovenian population.Semantic proximity Read ↗

BRCA1 founder mutations and beyond in the Polish population: A single-institution BRCA1/2 next-generation sequencing study.Semantic proximity Read ↗

Genetic testing results in Slovenian male breast cancer cohort indicate the BRCA2 7806-2A > G founder variant could be associated with higher male breast cancer risk.Semantic proximity Read ↗

Next-generation sequencing of the BRCA1 and BRCA2 genes for the genetic diagnostics of hereditary breast and/or ovarian cancer.Semantic proximity Read ↗

New Germinal Mutation of BRCA1 gene (c.829_832delAATA) in a Polish Patient with Breast/Ovarian CancerSemantic proximity Read ↗

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