Article
Probing structure-function relationships in missense variants in the carboxy-terminal region of BRCA1.
PloS one - 1 Jan 2014
Carvalho Renato S, Abreu Renata B V, Velkova Aneliya, Marsillac Sylvia, Rodarte Renato S, Suarez-Kurtz Guilherme, Iversen Edwin S, Monteiro Alvaro N A, Carvalho Marcelo A
Abstract excerpt
Germline inactivating variants in BRCA1 lead to a significantly increased risk of breast and ovarian cancers in carriers. While the functional effect of many variants can be inferred from the DNA sequence, determining the effect of missense variants present a significant challenge. A series of biochemical and cell biological assays have been successfully used to explore the impact of these variants on the...
Topics
- Alleles
- Amino Acid Substitution
- BRCA1 Protein
- Bayes Theorem
- Conserved Sequence
- Humans
- Mutation, Missense
- Protein Interaction Domains and Motifs
- Structure-Activity Relationship
- Thermodynamics