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

Identification of a breast cancer family double heterozygote for RAD51C and BRCA2 gene mutations.

Familial cancer - 1 Mar 2015

Ahlborn Lise B, Steffensen Ane Y, Jønson Lars, Djursby Malene, Nielsen Finn C, Gerdes Anne-Marie, Hansen Thomas V O

Abstract excerpt

Next-generation sequencing has entered routine genetic testing of hereditary breast cancer. It has provided the opportunity to screen multiple genes simultaneously, and consequently has identified new complex genotypes. Here we report the first identification of a woman double heterozygote for mutations in the RAD51C and BRCA2 genes. The RAD51C missense mutation p.Arg258His has previously been identified in a...

Read the complete abstract on PubMed

Topics

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

Share to Breast Neoplasms
Share to DNA-Binding Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Genes, BRCA2

Share to Genetic Predisposition to Disease

Share to Heterozygote

Share to High-Throughput Nucleotide Sequencing

Share to Pedigree

Source

Identifiers

PMID: 25154786
DOI: 10.1007/s10689-014-9747-y

Genes

BRCA2

Variants

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of a breast cancer family double heterozygote for RAD51C and BRCA2 gene mutations.PMID 25154786Read ↗

Screening RAD51C nucleotide alterations in patients with a family history of breast and ovarian cancer.Semantic proximity Read ↗

Functional redundancy of exon 12 of BRCA2 revealed by a comprehensive analysis of the c.6853A>G (p.I2285V) variant.Semantic proximity Read ↗

Germline RAD51C mutations in ovarian cancer susceptibility.Semantic proximity Read ↗

A novel splice site mutation in the noncoding region of BRCA2: implications for Fanconi anemia and familial breast cancer diagnostics.Semantic proximity Read ↗

Germline mutation in the RAD51B gene confers predisposition to breast cancer.Semantic proximity Read ↗

Delineation of an unknown significance FANCA genetic variant in a recurrent breast cancer patient.Semantic proximity Read ↗

RAD51C germline mutations found in Spanish site-specific breast cancer and breast-ovarian cancer families.Semantic proximity Read ↗

Biallelic germline BRCA1 mutations in a patient with early onset breast cancer, mild Fanconi anemia‐like phenotype, and no chromosome fragilitySemantic proximity Read ↗

Fanconi anemia and breast cancer susceptibility meet again.Semantic proximity Read ↗

Identification of a Danish breast/ovarian cancer family double heterozygote for BRCA1 and BRCA2 mutations.Semantic proximity Read ↗

Functional characterization of BRCA1 gene variants by mini-gene splicing assay.Semantic proximity Read ↗

The utility of multiple genomic technologies for interpretation of modern next generation sequencing: A novel case of three FANCA gene variants resulting in autosomal recessive Fanconi anaemia.Semantic proximity Read ↗

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