A new mutation in the BRCA1 gene (g.5196-5201del6, 5195-5202ins12), a 6 bp deletion replaced by the duplication of a 12 bp adjacent upstream intronic sequence.
Hardouin
A
A
Laboratory of Clinical Biology; Centre François Baclesse, Caen, France.
Baumann
J
J
Roussel
G
G
Quillien
V
V
Dugast
C
C
Berthet
P
P
D000328:Adult; D019313:BRCA1 Protein / Q000235:genetics*; D001483:Base Sequence; D001943:Breast Neoplasms / Q000235:genetics*; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000737:chemistry / Q000235:genetics; D005192:Family Health; D005260:Female; D020440:Gene Duplication; D006801:Humans; D007438:Introns / Q000235:genetics; D008875:Middle Aged; D009154:Mutation; D017384:Sequence Deletion
D019313:BRCA1 Protein; D004273:DNA, Neoplasm