Concepedia

Pathogenicity Evaluation of BRCA1 and BRCA2 Unclassified Variants Identified in Portuguese Breast/Ovarian Cancer Families

Catarina Santos, Ana Peixoto, Patrícia Rocha, Pedro Pinto, Susana Bizarro, Manuela Pinheiro, Carla Pinto, Rui Henrique, Manuel R. Teixeira

Journal of Molecular Diagnostics · 2014 · 28 citations · 35 references

DOI

Concepts

References

35

Breast and Ovarian Cancer Risks Due to Inherited Mutations in <i>BRCA1</i> and <i>BRCA2</i>

Mary‐Claire King, Joan H. Marks, Jessica B. Mandell · Science · 2003 · 2.2K citations

, , +17

ESEfinder: a web resource to identify exonic splicing enhancers

Luca Cartegni · Nucleic Acids Research · 2003 · 1.6K citations · Full text

, , +14

Biallelic Inactivation of <i>BRCA2</i> in Fanconi Anemia

Niall G. Howlett, Toshiyasu Taniguchi, Susan B. Olson et al. · Science · 2002 · 1.1K citations

, , +13

Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral

Sean V. Tavtigian · Journal of Medical Genetics · 2005 · 665 citations · Full text

, , +17

An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers

Philip J Smith, Chaolin Zhang, Jinhua Wang et al. · Human Molecular Genetics · 2006 · 503 citations · Full text

, , +15