Article

Clinical case study meets population cohort: Identification of a <i>BRCA1</i> pathogenic founder variant in Orcadians

2022-07-22

Abstract excerpt

The BRCA1 pathogenic missense variant c.5207T>C; p.Val1736Ala (V1736A) was multiply ascertained in the clinical investigation of breast and ovarian cancer families from Orkney in the Northern Isles of Scotland, UK. Oral history and birth, marriage and death registrations indicated genealogical linkage of the clinical cases to ancestors from the Isle of Westray, Orkney. Further clinical cases were identified throug...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 04a03aa2-01cb-5172-ac05-6e30e2ab0edb
DOI: 10.1101/2022.07.18.22276644

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Clinical case study meets population cohort: Identification of a <i>BRCA1</i> pathogenic founder variant in OrcadiansDOI 10.1101/2022.07.18.22276644Read

Clinical case study meets population cohort: identification of a BRCA1 pathogenic founder variant in Orcadians.Semantic proximity Read

Two founder variants account for over 90% of pathogenic BRCA alleles in the Orkney and Shetland Isles in Scotland.Semantic proximity Read

Two founder variants account for over 90% of pathogenic BRCA alleles in Orkney and ShetlandSemantic proximity Read

The genetic analysis of a founder Northern American population of European descent identifies<i>FANCI</i>as a candidate familial ovarian cancer risk geneSemantic proximity Read

Identification of actionable genetic variants in 4,198 Scottish volunteers from the Viking Genes research cohort and implementation of return of resultsSemantic proximity Read

Recontact and follow-up for individuals with germline pathogenic variants in hereditary breast and ovarian cancer susceptibility genes: a UK Cancer Genetics Group consensus meetingSemantic proximity Read

Genetic trends and common BRCA1/2 pathogenic sequence variants in black African and Indian breast cancer patients presenting at Inkosi Albert Luthuli Central Hospital, KwaZulu-Natal, South Africa.Semantic proximity Read

VIKING II, a Worldwide Observational Cohort of Volunteers with Northern Isles AncestrySemantic proximity Read

A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene.Semantic proximity Read

Genotype-first approach to the detection of hereditary breast and ovarian cancer risk, and effects of risk disclosure to biobank participantsSemantic proximity Read

Actionable genetic variants in 4,198 Scottish participants from the Orkney and Shetland founder populations and implementation of return of results.Semantic proximity Read

A Common Pathogenic Founder Variant in Rwandan Breast Cancer CasesSemantic proximity Read