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

BRCA2 founder mutation in Slovenian breast cancer families.

European journal of human genetics : EJHG - 1 Dec 2002

Krajc Mateja, De Grève Jacques, Goelen Guido, Teugels Erik

Abstract excerpt

Linkage analysis has identified BRCA1 and BRCA2 germline mutations as the major cause for cancer predisposition in breast and/or ovarian cancer families. In previous screening efforts on Belgian families we had a BRCA1/2 gene mutation detection rate of 25%.(1) Here we report the results of a BRCA mutation screening in seven high-risk breast/ovarian cancer families from Slovenia. We found a single but highly...

Read the complete abstract on PubMed

Topics

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

Share to BRCA2 Protein
Share to Breast Neoplasms
Share to Founder Effect

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genetic Testing

Share to Haplotypes

Share to Ovarian Neoplasms

Share to RNA Splice Sites

Share to Slovenia

Source

Identifiers

PMID: 12461697
DOI: 10.1038/sj.ejhg.5200886

Genes

BRCA2
BRCA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

BRCA2 founder mutation in Slovenian breast cancer families.PMID 12461697Read ↗

Five recurrent BRCA1/2 mutations are responsible for cancer predisposition in the majority of Slovenian breast cancer families.Semantic proximity Read ↗

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

BRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast/ovarian cancer familiesSemantic proximity Read ↗

Mutation analysis of the BRCA1 and BRCA2 genes in the Belgian patient population and identification of a Belgian founder mutation BRCA1 IVS5 + 3A > G.Semantic proximity Read ↗

BRCA2 gene mutations in Slovenian male breast cancer patients.Semantic proximity Read ↗

Founder mutations in BRCA1 and BRCA2 genes.Semantic proximity Read ↗

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

Geographical distribution of Slovenian BRCA1/2 families according to family origin: implications for genetic screening.Semantic proximity Read ↗

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

A novel frequent BRCA1 recurrent variant c.5117G > A (p.Gly1206Glu) identified after 20 years of BRCA1/2 research in the Baltic region: cohort study and literature reviewSemantic proximity Read ↗

Ashkenazi founder BRCA1/BRCA2 mutations in Slovak hereditary breast and/or ovarian cancer families.Semantic proximity Read ↗

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