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

High prevalence of BRCA1 stop mutation c.4183C>T in the Tyrolean population: implications for genetic testing.

European journal of human genetics : EJHG - 1 Feb 2016

Pölsler Laura, Fiegl Heidi, Wimmer Katharina, Oberaigner Willi, Amberger Albert, Traunfellner Pia, Morscher Raphael J, Weber Ingrid, Fauth Christine, Wernstedt Annekatrin, Sperner-Unterweger Barbara, Oberguggenberger Anne, Hubalek Michael, Marth Christian, Zschocke Johannes

Abstract excerpt

Screening for founder mutations in BRCA1 and BRCA2 has been discussed as a cost-effective testing strategy in certain populations. In this study, comprehensive BRCA1 and BRCA2 testing was performed in a routine diagnostic setting. The prevalence of the BRCA1 stop mutation c.4183C>T, p.(Gln1395Ter), was determined in unselected breast and ovarian cancer patients from different regions in the Tyrol. Cancer registry...

Read the complete abstract on PubMed

Topics

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

Share to Aged, 80 and over
Share to BRCA1 Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to BRCA2 Protein

Share to Breast Neoplasms

Share to Codon, Terminator

Share to Founder Effect

Share to Genetic Testing

Share to Ovarian Neoplasms

Source

Open in PubMed Open full text

Identifiers

PMID: 26014432
DOI: 10.1038/ejhg.2015.108
PMCID: PMC4717197

Genes

BRCA1
BRCA2

Variants

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

High prevalence of BRCA1 stop mutation c.4183C>T in the Tyrolean population: implications for genetic testing.PMID 26014432Read ↗

Novel BRCA1 and BRCA2 pathogenic mutations in Slovene hereditary breast and ovarian cancer families.Semantic proximity Read ↗

Novel BRCA1 deleterious mutation (c.1918C>T) in familial breast and ovarian cancer syndrome who share a common ancestry.Semantic proximity Read ↗

Prevalence of two BRCA1 mutations, 5382insC and 300T > G, in ovarian cancer patients from Ukraine.Semantic proximity Read ↗

Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1).Semantic proximity Read ↗

Novel BRCA1 splice-site mutation in ovarian cancer patients of Slavic origin.Semantic proximity Read ↗

Founding BRCA1 mutations in hereditary breast and ovarian cancer in southern Sweden.Semantic proximity Read ↗

High prevalence of two BRCA1 mutations, 4154delA and 5382insC, in Latvia.Semantic proximity Read ↗

BRCA1 mutations in a population-based study of breast cancer in Stockholm County.Semantic proximity Read ↗

Large regional differences in the frequency of distinct BRCA1/BRCA2 mutations in 517 Dutch breast and/or ovarian cancer families.Semantic proximity Read ↗

Identification of a novel BRCA1 nucleotide 4803delCC/c.4684delCC mutation and a nucleotide 249T>A/c.130T>A (p.Cys44Ser) mutation in two Greenlandic Inuit families: implications for genetic screening of Greenlandic Inuit families with high risk for breast and/or ovarian cancer.Semantic proximity Read ↗

The deletion of exons 3-5 of BRCA1 is the first founder rearrangement identified in breast and/or ovarian cancer Spanish families.Semantic proximity Read ↗

A high frequent BRCA1 founder mutation identified in the Greenlandic population.Semantic proximity Read ↗

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