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.

doi:10.1007/s10549-011-1544-9

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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.

Breast cancer research and treatment - 1 Feb 2012

De Leeneer Kim, Coene Ilse, Crombez Brecht, Simkens Justine, Van den Broecke Rudy, Bols Alain, Stragier Barbara, Vanhoutte Ilse, De Paepe Anne, Poppe Bruce, Claes Kathleen

Abstract excerpt

In order to adequately evaluate the clinical relevance of genetic testing in sporadic breast and ovarian cancer patients, we offered comprehensive BRCA1/2 mutation analysis in patients without a family history for the disease. We evaluated the complete coding and splice site regions of BRCA1/2 in 193 sporadic patients. In addition, a de novo mutation was further investigated with ultra deep sequencing and...

Topics

Adult
BRCA1 Protein
BRCA2 Protein
Base Sequence
Breast Neoplasms
Breast Neoplasms, Male
DNA Mutational Analysis
Female
Genetic Association Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genetic Testing

Hereditary Breast and Ovarian Cancer Syndrome

Humans

Male

Middle Aged

Molecular Sequence Data

Mutation

Neoplasms, Second Primary

Ovarian Neoplasms

Source

Open in PubMed

Identifiers

PMID: 21553119
DOI: 10.1007/s10549-011-1544-9

Genes

BRCA1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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