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

Italian family with two independent mutations: 3358T/A in BRCA1 and 8756delA in BRCA2 genes.

European journal of human genetics : EJHG - 1 Mar 2003

Cortesi Laura, Turchetti Daniela, Bertoni Chiara, Zanocco-Marani Tommaso, Vinceti Marco, Silvestri Chiara, Federico Massimo, Silingardi Vittorio, Ferrari Sergio

Abstract excerpt

Hereditary breast/ovarian cancer is a well-characterized clinical entity, largely attributed to the inheritance of BRCA1 or BRCA2 mutations. Among general population, the mutation's frequency of these genes is very low; therefore, the identification of two independent mutations in the same family is a rare event. This study reports the presence of two mutations, one in the BRCA1 and the second in the BRCA2 gene...

Topics

Join the communities discussing this publication.

Breast Neoplasms
DNA Mutational Analysis
Genes, BRCA1
Genes, BRCA2
Italy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Neoplastic Syndromes, Hereditary

Ovarian Neoplasms

Source

Identifiers

PMID: 12673274
DOI: 10.1038/sj.ejhg.5200948

Genes

BRCA2
BRCA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Italian family with two independent mutations: 3358T/A in BRCA1 and 8756delA in BRCA2 genes.PMID 12673274Read ↗

Novel BRCA1 and BRCA2 germline mutations and assessment of mutation spectrum and prevalence in Italian breast and/or ovarian cancer families.Semantic proximity Read ↗

Five Italian Families with Two Mutations in BRCA Genes.Semantic proximity Read ↗

BRCA1 and BRCA2 genes: role in hereditary breast and ovarian cancer in Italy.Semantic proximity Read ↗

Caucasian family with two independent mutations: 2594delC in BRCA1 and 5392delAG in BRCA2 gene.Semantic proximity Read ↗

Identification of a novel pathogenic mutation in BRCA2 in a Spanish breast-ovarian cancer family.Semantic proximity Read ↗

Analysis of BRCA1 and BRCA2 mutations in an Iranian family with hereditary breast and ovarian cancer syndrome.Semantic proximity Read ↗

A new mutation of BRCA2 gene in an Italian healthy woman with familial breast cancer history.Semantic proximity Read ↗

BRCA1 and BRCA2 genetic test in high risk patients and families: counselling and management.Semantic proximity Read ↗

Prevalence and Spectrum of BRCA Germline Variants in Central Italian High Risk or Familial Breast/Ovarian Cancer Patients: A Monocentric Study.Semantic proximity Read ↗

Identification of a novel in-frame deletion in BRCA2 and analysis of variants of BRCA1/2 in Italian patients affected with hereditary breast and ovarian cancer.Semantic proximity Read ↗

Phenotypic features and genetic characterization of male breast cancer families: identification of two recurrent BRCA2 mutations in north-east of Italy.Semantic proximity Read ↗

Segregation analysis of the BRCA2 c.9227G>T variant in multiple families suggests a pathogenic role in breast and ovarian cancer predisposition.Semantic proximity Read ↗

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