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 Danish breast/ovarian cancer family double heterozygote for BRCA1 and BRCA2 mutations.

Familial cancer - 1 Sept 2010

Steffensen Ane Y, Jønson Lars, Ejlertsen Bent, Gerdes Anne-Marie, Nielsen Finn C, Hansen Thomas V O

Abstract excerpt

Mutations in the two breast cancer susceptibility genes BRCA1 and BRCA2 are associated with increased risk of breast and ovarian cancer. Patients with mutations in both genes are rarely reported and often involve Ashkenazi founder mutations. Here we report the first identification of a Danish breast and ovarian cancer family heterozygote for mutations in the BRCA1 and BRCA2 genes. The BRCA1 nucleotide 5215G >...

Read the complete abstract on PubMed

Topics

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

Share to Breast Neoplasms, Male
Share to Denmark

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Family

Share to Frameshift Mutation

Share to Genes, BRCA1

Share to Genes, BRCA2

Share to Mutation, Missense

Share to Ovarian Neoplasms

Source

Open in PubMed Open full text

Identifiers

PMID: 20455026
DOI: 10.1007/s10689-010-9345-6
PMCID: PMC2921502

Genes

BRCA1
BRCA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of a Danish breast/ovarian cancer family double heterozygote for BRCA1 and BRCA2 mutations.PMID 20455026Read ↗

Double Heterozygosity for Rare Deleterious Variants in the BRCA1 and BRCA2 Genes in a Hungarian Patient with Breast Cancer.Semantic proximity Read ↗

BRCA1/BRCA2 founder mutations and cancer risks: impact in the western Danish population.Semantic proximity Read ↗

Double heterozygosity for mutations in BRCA1 and BRCA2 in German breast cancer patients: implications on test strategies and clinical management.Semantic proximity Read ↗

Characteristics of double heterozygosity for BRCA1 and BRCA2 germline mutations in Korean breast cancer patients.Semantic proximity Read ↗

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

Double heterozygotes for the Ashkenazi founder mutations in BRCA1 and BRCA2 genes.Semantic proximity Read ↗

The silent mutation nucleotide 744 G --> A, Lys172Lys, in exon 6 of BRCA2 results in exon skipping.Semantic proximity Read ↗

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

BRCA1 and BRCA2 mutations in Danish families with hereditary breast and/or ovarian cancer.Semantic proximity Read ↗

BRCA1 and BRCA2 mutations in Turkish breast/ovarian families and young breast cancer patients.Semantic proximity Read ↗

Double heterozygosity in the BRCA1 and BRCA2 genes in Italian family.Semantic proximity Read ↗

Screening for BRCA1 and BRCA2 mutations in Eastern Finnish breast/ovarian cancer families.Semantic proximity Read ↗

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