Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients

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...

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Autori principali: Silva, Felipe C, Lisboa, Bianca CG, Figueiredo, Marcia CP, Torrezan, Giovana T, Santos, Érika MM, Krepischi, Ana C, Rossi, Benedito M, Achatz, Maria I, Carraro, Dirce M
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2014
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4038072/
https://ncbi.nlm.nih.gov/pubmed/24884479
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-15-55
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