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

We multiply ascertained the BRCA1 pathogenic missense variant c.5207T > C; p.Val1736Ala (V1736A) in clinical investigation of breast and ovarian cancer families from Orkney in the Northern Isles of Scotland, UK. We sought to investigate the frequency and clinical relevance of this variant in thos...

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Vydané v:	European journal of human genetics : EJHG Ročník 31; číslo 5; s. 588 - 595
Hlavní autori:	Kerr, Shona M, Cowan, Emma, Klaric, Lucija, Bell, Christine, O'Sullivan, Dawn, Buchanan, David, Grzymski, Joseph J, van Hout, Cristopher V, Tzoneva, Gannie, Shuldiner, Alan R, Wilson, James F, Miedzybrodzka, Zosia
Médium:	Journal Article
Jazyk:	English
Vydavateľské údaje:	England Nature Publishing Group 01.05.2023
Predmet:	BRCA1 protein BRCA1 Protein - genetics BRCA2 Protein - genetics Breast Breast cancer Breast Neoplasms - genetics Electronic health records Electronic medical records Female Gene Frequency Genealogy Genetic Predisposition to Disease Genetic Testing Haplotypes Humans Ovarian cancer Ovarian Neoplasms - epidemiology Ovarian Neoplasms - genetics Ovarian Neoplasms - pathology Population studies Scotland - epidemiology State Medicine Scotland United Kingdom > UK
ISSN:	1018-4813, 1476-5438, 1476-5438
On-line prístup:	Získať plný text
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