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pro vyhledávání: '"founder BRCA1/2 mutation"'
Autor:
Giovanni Scambia, Ettore Capoluongo, Gianfranco Zannoni, Angelo Minucci, Giovanni Luca Scaglione, Elisa De Paolis, Maria De Bonis
Publikováno v:
Familial Cancer. 18:29-35
Despite some populations show a wide spectrum of different BRCA pathogenic variants (PVs), particular ethnic groups carry at high frequency a single or a few recurrent PVs, usually due to a founder effect. The identification of these founder PVs, wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6999111b28af0bb501f717a3e4ca7e1b
https://doi.org/10.1007/s10689-018-0094-2
https://doi.org/10.1007/s10689-018-0094-2
Autor:
Barbara L. Weber, D. M. Black, V A Anderson, Ellen Warner, E. Hoodfar, Steven A. Narod, Olufunmilayo I. Olopade, B B Cohen, R. De Mey, Rosemarie Davidson, A. Renwick, M. Micek, A. Liede, Jamie L. Dann, A. Fordyce, Mary Claire King, C. M. Steel
Publikováno v:
British Journal of Cancer
BRCA1 mutations have been identified in breast and ovarian cancer families from diverse ethnic backgrounds. We studied 17 different families with the BRCA1 2800delAA mutation; seven were ascertained in Scotland (Dundee, Edinburgh, Glasgow, St Andrews
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54111762d690f821bb719f7470a10fa1
https://pubmed.ncbi.nlm.nih.gov/10682686
https://pubmed.ncbi.nlm.nih.gov/10682686
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