Ten novel BRCA1 and BRCA2 mutations in breast and/or ovarian cancer families from northern Germany.
Germline mutations in the BRCA1 and BRCA2 gene account for the majority of high-risk breast/ovarian cancer families. We have screened such families from Northern Germany by using DHPLC analysis and subsequent direct sequencing techniques. In ten families we identified six novel BRCA1 and 4 novel BRCA2 mutations comprising four frame shift mutations, one nonsense and one splice site mutation in the BRCA1 gene as well as three frameshift mutations and one nonsense mutation in the BRCA2 gene. Our analysis contributes to the further characterisation of the mutational spectrum of BRCA1 and BRCA2.
Kiechle
M
M
Department of Gynecology and Obstetrics, University of Kiel, Germany. mkiechle@email.uni-kiel.de
Gross
E
E
Schwarz-Boeger
U
U
Pfisterer
J
J
Jonat
W
W
Gerber
W D
WD
Albacht
B
B
Fischer
B
B
Schlegelberger
B
B
Arnold
N
N
D000328:Adult; D024682:BRCA2 Protein; D001943:Breast Neoplasms / Q000175:diagnosis / Q000235:genetics*; D018567:Breast Neoplasms, Male / Q000175:diagnosis / Q000235:genetics*; D018389:Codon, Nonsense / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics; D019398:Genes, BRCA1 / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics; D018095:Germ-Line Mutation / Q000235:genetics; D005858:Germany; D006801:Humans; D008297:Male; D008875:Middle Aged; D009363:Neoplasm Proteins / Q000235:genetics*; D010051:Ovarian Neoplasms / Q000175:diagnosis / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*
D024682:BRCA2 Protein; D018389:Codon, Nonsense; D005819:Genetic Markers; D009363:Neoplasm Proteins; D014157:Transcription Factors