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

A high frequent BRCA1 founder mutation identified in the Greenlandic population.

Familial cancer - 1 Jan 2009

Harboe Theresa Larriba, Eiberg Hans, Kern Peder, Ejlertsen Bent, Nedergaard Lotte, Timmermans-Wielenga Vera, Nielsen Inge-Merete, Bisgaard Marie Luise

Abstract excerpt

Approximately 10% of all breast and ovarian cancers are dominantly inherited and mutations are mainly found in the BRCA 1 and 2 genes. The penetrance of BRCA1 mutations is reported to be between 68 and 92% and confers a 36-92% life time risk of breast cancer. Most mutations in BRCA1 are uniquely occurring mutations, but founder mutations have been described. In this study we describe a founder mutation with wide...

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 Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Founder Effect

Share to Genes, BRCA1

Share to Greenland

Share to Ovarian Neoplasms

Share to Polymorphism, Restriction Fragment Length

Source

Identifiers

PMID: 19504351
DOI: 10.1007/s10689-009-9257-5

Genes

BRCA1

Variants

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

A high frequent BRCA1 founder mutation identified in the Greenlandic population.PMID 19504351Read ↗

A common Greenlandic Inuit BRCA1 RING domain founder mutation.Semantic proximity Read ↗

Identification of a novel BRCA1 nucleotide 4803delCC/c.4684delCC mutation and a nucleotide 249T>A/c.130T>A (p.Cys44Ser) mutation in two Greenlandic Inuit families: implications for genetic screening of Greenlandic Inuit families with high risk for breast and/or ovarian cancer.Semantic proximity Read ↗

A founder mutation of the BRCA1 gene in Western Sweden associated with a high incidence of breast and ovarian cancer.Semantic proximity Read ↗

The founder mutation BRCA1c.2845insA identified in a fallopian tube cancer patient: a case report.Semantic proximity Read ↗

BRCA1 mutations in South African breast and/or ovarian cancer families: evidence of a novel founder mutation in Afrikaner families.Semantic proximity Read ↗

BRCA1 testing in breast and/or ovarian cancer families from northeastern France identifies two common mutations with a founder effect.Semantic proximity Read ↗

Evidence of a founder BRCA1 mutation in Scotland.Semantic proximity Read ↗

Study of a single BRCA2 mutation with high carrier frequency in a small population.Semantic proximity Read ↗

Genetic epidemiology of BRCA1 mutations in Norway.Semantic proximity Read ↗

High prevalence of BRCA1 stop mutation c.4183C>T in the Tyrolean population: implications for genetic testing.Semantic proximity Read ↗

Genetic Variations, Exposure to Persistent Organic Pollutants and Breast Cancer Risk - A Greenlandic Case-Control Study.Semantic proximity Read ↗

A BRCA1 mutation in Native North American families.Semantic proximity Read ↗

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