Article
Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients.
BMC medical genetics - 15 May 2014
Silva Felipe C, Lisboa Bianca Cg, Figueiredo Marcia Cp, Torrezan Giovana T, Santos Erika Mm, Krepischi Ana C, Rossi Benedito M, Achatz Maria I, Carraro Dirce M
Abstract excerpt
BACKGROUND: Germ line mutations in BRCA1 and BRCA2 (BRCA1/2) and other susceptibility genes have been identified as genetic causes of hereditary breast and ovarian cancer (HBOC). To identify the disease-causing mutations in a cohort of 120 Brazilian women fulfilling criteria for HBOC, we carried out a comprehensive screening of BRCA1/2, TP53 R337H, CHEK2 1100delC, followed by an analysis of copy number variations...
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