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

The exon 13 duplication in the BRCA1 gene is a founder mutation present in geographically diverse populations. The BRCA1 Exon 13 Duplication Screening Group.

American journal of human genetics - 1 Jul 2000

Abstract excerpt

Recently, a 6-kb duplication of exon 13, which creates a frameshift in the coding sequence of the BRCA1 gene, has been described in three unrelated U.S. families of European ancestry and in one Portuguese family. Here, our goal was to estimate the frequency and geographic diversity of carriers of this duplication. To do this, a collaborative screening study was set up that involved 39 institutions from 19...

Read the complete abstract on PubMed

Topics

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

Share to Breast Neoplasms, Male
Share to England
Share to Founder Effect

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Frameshift Mutation

Share to Gene Duplication

Share to Genes, BRCA1

Share to Multicenter Studies as Topic

Share to Ovarian Neoplasms

Source

Open in PubMed Open full text

Identifiers

PMID: 10827109
PMCID: PMC1287079

Genes

BRCA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The exon 13 duplication in the BRCA1 gene is a founder mutation present in geographically diverse populations. The BRCA1 Exon 13 Duplication Screening Group.PMID 10827109Read ↗

The BRCA1 exon 13 duplication: clinical characteristics of 22 families in Northern Sweden.Semantic proximity Read ↗

The BRCA1 exon 13 duplication in the Swedish population.Semantic proximity Read ↗

Identification of the first case of germline duplication of BRCA1 exon 13 in an Italian family.Semantic proximity Read ↗

Prevalence of five previously reported and recurrent BRCA1 genetic rearrangement mutations in 20,000 patients from hereditary breast/ovarian cancer families.Semantic proximity Read ↗

A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene. Implications for presymptomatic testing and screening.Semantic proximity Read ↗

Haplotype analysis reveals that the recurrent BRCA1 deletion of exons 23 and 24 is a Greek founder mutation.Semantic proximity Read ↗

BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients.Semantic proximity Read ↗

Evidence of a founder mutation of BRCA1 in a highly homogeneous population from southern Italy with breast/ovarian cancer.Semantic proximity Read ↗

Screening for genomic rearrangements in families with breast and ovarian cancer identifies BRCA1 mutations previously missed by conformation-sensitive gel electrophoresis or sequencing.Semantic proximity Read ↗

Evidence for common ancestral origin of a recurring BRCA1 genomic rearrangement identified in high-risk Hispanic families.Semantic proximity Read ↗

A new alternative splice variant of BRCA1 containing an additional in-frame exon.Semantic proximity Read ↗

Founder effect of the BRCA1 5382insC mutation in Brazilian patients with hereditary breast ovary cancer syndrome.Semantic proximity Read ↗

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