Article
Risk of breast cancer in women with a CHEK2 mutation with and without a family history of breast cancer.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology - 1 Oct 2011
Cybulski Cezary, Wokołorczyk Dominika, Jakubowska Anna, Huzarski Tomasz, Byrski Tomasz, Gronwald Jacek, Masojć Bartłomiej, Deebniak Tadeusz, Górski Bohdan, Blecharz Paweł, Narod Steven A, Lubiński Jan
Abstract excerpt
PURPOSE: To estimate the risk of breast cancer in a woman who has a CHEK2 mutation depending on her family history of breast cancer. PATIENTS AND METHODS: Seven thousand four hundred ninety-four BRCA1 mutation-negative patients with breast cancer and 4,346 control women were genotyped for four founder mutations in CHEK2 (del5395, IVS2+1G>A, 1100delC, and I157T). RESULTS: A truncating mutation (IVS2+1G>A,...
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