Article
A search for modifying genetic factors in CHEK2:c.1100delC breast cancer patients.
Scientific reports - 20 Jul 2021
Wendt Camilla, Muranen Taru A, Mielikäinen Lotta, Thutkawkorapin Jessada, Blomqvist Carl, Jiao Xiang, Ehrencrona Hans, Tham Emma, Arver Brita, Melin Beatrice, Kuchinskaya Ekaterina, Stenmark Askmalm Marie, Paulsson-Karlsson Ylva, Einbeigi Zakaria, von Wachenfeldt Väppling Anna, Kalso Eija, Tasmuth Tiina, Kallioniemi Anne, Aittomäki Kristiina, Nevanlinna Heli, Borg Åke, Lindblom Annika
Abstract excerpt
The risk of breast cancer associated with CHEK2:c.1100delC is 2-threefold but higher in carriers with a family history of breast cancer than without, suggesting that other genetic loci in combination with CHEK2:c.1100delC confer an increased risk in a polygenic model. Part of the excess familial risk has been associated with common low-penetrance variants. This study aimed to identify genetic loci that modify...
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