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

Topics Community

Article

Identification of a de novo BRCA1 mutation in a woman with early onset bilateral breast cancer.

Familial cancer - 1 Jan 2009

Edwards Emma, Yearwood Catharina, Sillibourne Julie, Baralle Diana, Eccles Diana

Abstract excerpt

De novo mutations are rarely reported in BRCA1 and BRCA2. We report a proven BRCA1 de novo mutation in a woman diagnosed with young onset bilateral breast cancer with a limited family history.

Topics

Join the communities discussing this publication.

Age of Onset
BRCA1 Protein
Breast Neoplasms
Carcinoma, Ductal, Breast
BRCA2 gene
Genes, BRCA1

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 19629752
DOI: 10.1007/s10689-009-9270-8

Genes

BRCA1
BRCA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 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

Identification of a de novo BRCA1 mutation in a woman with early onset bilateral breast cancer.PMID 19629752Read ↗

Unique de novo mutation of BRCA2 in a woman with early onset breast cancer.Semantic proximity Read ↗

De novo BRCA1 mutation in a patient with breast cancer and an inherited BRCA2 mutation.Semantic proximity Read ↗

A de novo complete BRCA1 gene deletion identified in a Spanish woman with early bilateral breast cancerSemantic proximity Read ↗

A novel de novo BRCA1 mutation in a Chinese woman with early onset breast cancer.Semantic proximity Read ↗

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

Value of bilateral breast cancer for identification of rare recessive at-risk alleles: evidence for the role of homozygous GEN1 c.2515_2519delAAGTT mutation.Semantic proximity Read ↗

BRCA1 and BRCA2 mutation status and cancer family history of Danish women affected with multifocal or bilateral breast cancer at a young age.Semantic proximity Read ↗

A novel deleterious PTEN mutation in a patient with early-onset bilateral breast cancer.Semantic proximity Read ↗

Prevalence of BRCA1/2 mutations in sporadic breast/ovarian cancer patients and identification of a novel de novo BRCA1 mutation in a patient diagnosed with late onset breast and ovarian cancer: implications for genetic testing.Semantic proximity Read ↗

Case report: de novo BRCA2 gene mutation in a 35-year-old woman with breast cancer.Semantic proximity Read ↗

Breast and ovarian cancer predisposition due to de novo BRCA1 and BRCA2 mutations.Semantic proximity Read ↗

Mutations of the BRCA1 and BRCA2 genes in patients with bilateral breast cancer.Semantic proximity Read ↗

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