In silico , in vitro and case-control analyses as an effective combination for analyzing BRCA1 and BRCA2 unclassified variants in a population-based sample

Abstract Ascertaining the clinical consequences of BRCA1 and BRCA2 variants of uncertain significance (VUS) is currently indispensable for providing effective genetic counseling and preventive actions for families with hereditary breast and ovarian cancer (HBOC). To this end, we conducted a combinat...

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Bibliographic Details
Published in:	Cancer genetics Vol. 209; no. 11; pp. 487 - 492
Main Authors:	Rodríguez-Balada, Marta, Roig, Bàrbara, Martorell, Lourdes, Melé, Mireia, Salvat, Mònica, Vilella, Elisabet, Borràs, Joan, Gumà, Josep
Format:	Journal Article
Language:	English
Published:	United States Elsevier Inc 01-11-2016
Subjects:	Adult Aged Alternative Splicing BRCA1 BRCA1 Protein - genetics BRCA2 BRCA2 Protein - genetics cancer genetic counseling Case-Control Studies cDNA Computational Biology - methods Computer Simulation DNA Mutational Analysis - methods DNA, Complementary - genetics Early Detection of Cancer Female Genetic Counseling Hematology, Oncology and Palliative Medicine Hereditary Breast and Ovarian Cancer Syndrome - genetics Humans In Vitro Techniques Medical Education Middle Aged Polymorphism, Single Nucleotide Predictive Value of Tests Sequence Analysis, DNA - methods splicing variants of unknown significance Young Adult cancer genetic counseling cDNA BRCA1 splicing BRCA2 variants of unknown significance
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