FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2023268391> ?p ?o ?g. }

• W2023268391 endingPage "763" @default.
• W2023268391 startingPage "757" @default.
• W2023268391 abstract "In the Finnish breast and ovarian cancer families six BRCA1 and five BRCA2 mutations have been found recurrently. Some of these recurrent mutations have also been seen elsewhere in the world, while others are exclusively of Finnish origin. A haplotype analysis of 26 Finnish families carrying a BRCA1 mutation and 20 families with a BRCA2 mutation indicated that the carriers of each recurrent mutation have common ancestors. The common ancestors were estimated to trace back to 7–36 generations (150–800 years). The time estimates and the geographical clustering of these founder mutations in Finland are in concordance with the population history of this country. Analysis of the cancer phenotypes showed differential ovarian cancer expression in families carrying mutations in the 5′ and 3′ ends of the BRCA1 gene, and earlier age of ovarian cancer onset in families with BRCA1 mutations compared with families with BRCA2 mutations. The identification of prominent and regional BRCA1 and BRCA2 founder mutations in Finland will have significant impact on diagnostics in Finnish breast and ovarian cancer families. An isolated population with known history and multiple local founder effects in multigenic disease may offer distinct advantages also for mapping novel predisposing genes." @default.
• W2023268391 created "2016-06-24" @default.
• W2023268391 creator A5001687883 @default.
• W2023268391 creator A5001771682 @default.
• W2023268391 creator A5002109787 @default.
• W2023268391 creator A5010863055 @default.
• W2023268391 creator A5025092766 @default.
• W2023268391 creator A5025365158 @default.
• W2023268391 creator A5029824599 @default.
• W2023268391 creator A5031671598 @default.
• W2023268391 creator A5032238031 @default.
• W2023268391 creator A5033640021 @default.
• W2023268391 creator A5035432984 @default.
• W2023268391 creator A5044887897 @default.
• W2023268391 creator A5050670008 @default.
• W2023268391 creator A5055564008 @default.
• W2023268391 creator A5059489453 @default.
• W2023268391 creator A5062149739 @default.
• W2023268391 creator A5062748874 @default.
• W2023268391 creator A5062919999 @default.
• W2023268391 creator A5069204047 @default.
• W2023268391 creator A5070017914 @default.
• W2023268391 creator A5071912561 @default.
• W2023268391 creator A5075338726 @default.
• W2023268391 creator A5079300815 @default.
• W2023268391 creator A5079334580 @default.
• W2023268391 creator A5086582201 @default.
• W2023268391 creator A5091752511 @default.
• W2023268391 date "2000-10-01" @default.
• W2023268391 modified "2023-10-12" @default.
• W2023268391 title "Multiple founder effects and geographical clustering of BRCA1 and BRCA2 families in Finland" @default.
• W2023268391 cites W1557152547 @default.
• W2023268391 cites W1580828362 @default.
• W2023268391 cites W1584401095 @default.
• W2023268391 cites W177339463 @default.
• W2023268391 cites W1815160145 @default.
• W2023268391 cites W1965265115 @default.
• W2023268391 cites W197656001 @default.
• W2023268391 cites W1981534650 @default.
• W2023268391 cites W1983423794 @default.
• W2023268391 cites W198350897 @default.
• W2023268391 cites W1983825172 @default.
• W2023268391 cites W1989979293 @default.
• W2023268391 cites W1993342975 @default.
• W2023268391 cites W2009630519 @default.
• W2023268391 cites W2009759387 @default.
• W2023268391 cites W2010850520 @default.
• W2023268391 cites W2030093162 @default.
• W2023268391 cites W2035765556 @default.
• W2023268391 cites W2037316827 @default.
• W2023268391 cites W2038790498 @default.
• W2023268391 cites W2051369987 @default.
• W2023268391 cites W2058064521 @default.
• W2023268391 cites W2093542878 @default.
• W2023268391 cites W2103970959 @default.
• W2023268391 cites W2117897733 @default.
• W2023268391 cites W2124806507 @default.
• W2023268391 cites W2147071458 @default.
• W2023268391 cites W2167167498 @default.
• W2023268391 cites W84021056 @default.
• W2023268391 doi "https://doi.org/10.1038/sj.ejhg.5200529" @default.
• W2023268391 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/11039575" @default.
• W2023268391 hasPublicationYear "2000" @default.
• W2023268391 type Work @default.
• W2023268391 sameAs 2023268391 @default.
• W2023268391 citedByCount "88" @default.
• W2023268391 countsByYear W20232683912012 @default.
• W2023268391 countsByYear W20232683912013 @default.
• W2023268391 countsByYear W20232683912014 @default.
• W2023268391 countsByYear W20232683912015 @default.
• W2023268391 countsByYear W20232683912016 @default.
• W2023268391 countsByYear W20232683912017 @default.
• W2023268391 countsByYear W20232683912018 @default.
• W2023268391 countsByYear W20232683912019 @default.
• W2023268391 countsByYear W20232683912020 @default.
• W2023268391 countsByYear W20232683912021 @default.
• W2023268391 countsByYear W20232683912022 @default.
• W2023268391 crossrefType "journal-article" @default.
• W2023268391 hasAuthorship W2023268391A5001687883 @default.
• W2023268391 hasAuthorship W2023268391A5001771682 @default.
• W2023268391 hasAuthorship W2023268391A5002109787 @default.
• W2023268391 hasAuthorship W2023268391A5010863055 @default.
• W2023268391 hasAuthorship W2023268391A5025092766 @default.
• W2023268391 hasAuthorship W2023268391A5025365158 @default.
• W2023268391 hasAuthorship W2023268391A5029824599 @default.
• W2023268391 hasAuthorship W2023268391A5031671598 @default.
• W2023268391 hasAuthorship W2023268391A5032238031 @default.
• W2023268391 hasAuthorship W2023268391A5033640021 @default.
• W2023268391 hasAuthorship W2023268391A5035432984 @default.
• W2023268391 hasAuthorship W2023268391A5044887897 @default.
• W2023268391 hasAuthorship W2023268391A5050670008 @default.
• W2023268391 hasAuthorship W2023268391A5055564008 @default.
• W2023268391 hasAuthorship W2023268391A5059489453 @default.
• W2023268391 hasAuthorship W2023268391A5062149739 @default.
• W2023268391 hasAuthorship W2023268391A5062748874 @default.
• W2023268391 hasAuthorship W2023268391A5062919999 @default.
• W2023268391 hasAuthorship W2023268391A5069204047 @default.
• W2023268391 hasAuthorship W2023268391A5070017914 @default.

• next