[Penetrance of BRCA1 gene mutation and DNA mitochondrial in Tunisian breast cancer occurrence].
OBJECTIVE
The aim of this study is to evaluate the implication of BRCA1 gene and the mitochondrial micro satellite (situated between 303 and 315 positions) mutations in the occurrence of breast cancer in Tunisia.


METHODS
Nine Tunisian patients with hereditary breast cancer have been analyzed. For each patient, total genomic DNA was extracted and used as a template for the amplification of 24 exons of the BRCA1 gene and an hyper variable mitochondrial region. The obtained products were purified and automatically sequenced.


RESULTS
The results revealed five types of mutations for the micro satellite situated between the 303 and 315 positions and two deleterious BRCA1 mutations for two unrelated patients which present the same mitochondrial mutation (315.insC) suggesting his implication in the modulation of the BRCA1 deleterious mutations penetrance.
Troudi
Wafa
W
Laboratory of Genetics, Immunology and Human Pathology, Faculty of Sciences of Tunis, University El Manar I.
Loueslati
Besma
B
Baccar
Amal
A
Ben Ayed
Farhat
F
Ben Ammar El Gaaied
Amel
A
D000328:Adult; D001943:Breast Neoplasms / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D019398:Genes, BRCA1; D006801:Humans; D018895:Microsatellite Repeats / Q000235:genetics; D008875:Middle Aged; D009154:Mutation; D014416:Tunisia
D004272:DNA, Mitochondrial