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

Is BRCA1-5083del19, identified in breast cancer patients of Sicilian origin, a Calabrian founder mutation?

Breast cancer research and treatment - 1 Jan 2009

Russo Antonio, Calò Valentina, Bruno Loredana, Schirò Valentina, Agnese Valentina, Cascio Sandra, Foddai Elena, Fanale Daniele, Rizzo Sergio, Di Gaudio Francesca, Gulotta Eliana, Surmacz Eva, Di Fede Gaetana, Bazan Viviana

Abstract excerpt

Various studies have been published in Italy regarding the different BRCA1 mutations, but only the BRCA1-5083del19 mutation is recurrent and specific to individuals of Italian descent with a founder effect on the Calabrian population. In our previous study, BRCA1-5083del19 mutation carriers were found in four index cases of 106 Sicilian patients selected for familial and/or hereditary breast/ovarian cancers. The...

Read the complete abstract on PubMed

Topics

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

Share to BRCA1 Protein
Share to Breast Neoplasms

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

Share to Founder Effect

Share to Ovarian Neoplasms

Share to Reference Values

Share to Risk Assessment

Share to Sequence Deletion

Share to Sicily

Source

Identifiers

PMID: 18228134
DOI: 10.1007/s10549-008-9906-7

Genes

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

Is BRCA1-5083del19, identified in breast cancer patients of Sicilian origin, a Calabrian founder mutation?PMID 18228134Read ↗

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

BRCA1 5382insC founder mutation has not a significative recurrent presence in Northeastern Romanian cancer patients.Semantic proximity Read ↗

BRCA1 genetic testing in 106 breast and ovarian cancer families from Southern Italy (Sicily): a mutation analyses.Semantic proximity Read ↗

Two founder BRCA2 mutations predispose to breast cancer in young women.Semantic proximity Read ↗

A new germline mutation in BRCA1 gene in a sicilian family with 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 ↗

BRCA1 5272-1G>A and BRCA2 5374delTATG are founder mutations of high relevance for genetic counselling in breast/ovarian cancer families of Spanish origin.Semantic proximity Read ↗

BRCA1:185delAG found in the San Luis Valley probably originated in a Jewish founder.Semantic proximity Read ↗

The BRCA1 c.4096+1G>A Is a Founder Variant Which Originated in Ancient Times.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 ↗

Haplotype analysis and ancient origin of the BRCA1 c.4035delA Baltic founder mutation.Semantic proximity Read ↗

Y179C, F486L and N550H are BRCA1 variants that may be associated with breast cancer in a Sicilian family: results of a 5-year GOIM (Gruppo Oncologico dell'Italia Meridionale) prospective study.Semantic proximity Read ↗

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