Functional evaluation of BRCA2 variants mapping to the PALB2-binding and C-terminal DNA-binding domains using a mouse ES cell-based assay

• Published in: Human molecular genetics Vol. 21; no. 18; pp. 3993 - 4006
• Main Authors: BISWAS, Kajal, DAS, Ranabir, PRUSS, Dmitry, BOWLES, Karla R, ROA, Benjamin B, HUNTER, Neil, TESSAROLLO, Lino, WENSTRUP, Richard J, BYRD, R. Andrew, SHARAN, Shyam K, EGGINGTON, Julie M, QIAO, Huanyu, NORTH, Susan L, STAUFFER, Stacey, BURKETT, Sandra S, MARTIN, Betty K, SOUTHON, Eileen, SIZEMORE, Scott C
• Format: Journal Article
• Language: English
• Published: Oxford Oxford University Press 15.09.2012
• Subjects: Amino Acid Sequence; Animals; Biological and medical sciences; BRCA2 Protein - chemistry; BRCA2 Protein - genetics; Breast Neoplasms - genetics; Cell Cycle Proteins; Cell physiology; Cell Survival; Cell transformation and carcinogenesis. Action of oncogenes and antioncogenes; Cells, Cultured; Chromosome Mapping; Conserved Sequence; DNA Breaks, Double-Stranded; DNA Repair; DNA-Binding Proteins; Embryonic Stem Cells - drug effects; Embryonic Stem Cells - metabolism; Embryonic Stem Cells - physiology; Fanconi Anemia Complementation Group N Protein; Female; Fundamental and applied biological sciences. Psychology; Genetic Association Studies; Genetics of eukaryotes. Biological and molecular evolution; Humans; Likelihood Functions; Male; Mice; Mice, Transgenic; Mitomycin - pharmacology; Models, Molecular; Molecular and cellular biology; Mutagens - pharmacology; Mutation; Nuclear Proteins - metabolism; Protein Binding; Protein Interaction Domains and Motifs - genetics; Protein Structure, Quaternary; Structural Homology, Protein; Tumor Suppressor Proteins - metabolism; Cartography; Genetic variability; Rodentia; Genotype; Binding site; C terminal-Sequence; Variant; Vertebrata; Mammalia; Mouse; BRCA2 gene; Animal; DNA; Genetics; Tumor suppressor gene

Single-nucleotide substitutions and small in-frame insertions or deletions identified in human breast cancer susceptibility genes BRCA1 and BRCA2 are frequently classified as variants of unknown clinical significance (VUS) due to the availability of very limited information about their functional co...